Wrodzone anomalie zastawki mitralnej
Diagnostyka i diagnoza

Wrodzone anomalie zastawki mitralnej obejmują różnorodne wady strukturalne obecne od urodzenia, manifestujące się jako stenoza, niedomykalność lub ich kombinacja, wpływające na hemodynamikę lewego serca. Diagnostyka opiera się na badaniu klinicznym, wywiadzie oraz szeregu badań obrazowych, z echokardiografią przezklatkową jako podstawowym narzędziem umożliwiającym ocenę morfologii i funkcji zastawki. Wskazane jest także stosowanie echokardiografii przezprzełykowej (TEE), zwłaszcza z obrazowaniem 3D, które pozwala na precyzyjną identyfikację złożonych wad, takich jak zastawka mitralna z podwójnym ujściem (DOMV) czy izolowana szczelina płatka (CMVL). Wrodzone zwężenie zastawki mitralnej występuje u 0,21-0,42% pacjentów z wrodzonymi wadami serca, często współistniejąc z ubytkiem przegrody międzykomorowej (30%) oraz zespołem Shone’a. Echokardiografia umożliwia pomiar gradientu przezzastawkowego i ocenę stopnia zwężenia oraz niedomykalności, a także identyfikację mechanizmów patologii i towarzyszących wad serca.

Wprowadzenie do wrodzonych anomalii zastawki mitralnej

Wrodzone anomalie zastawki mitralnej (ang. Congenital mitral valve anomalies) stanowią szereg różnorodnych nieprawidłowości w budowie zastawki dwudzielnej, które są obecne od urodzenia. Schorzenia te dotyczą zastawki znajdującej się między lewym przedsionkiem a lewą komorą serca i mogą występować jako izolowane wady lub współistnieć z innymi wrodzonymi wadami serca.12 Anomalie te charakteryzują się różnorodnymi zmianami morfologicznymi i fizjologicznymi, które mogą prowadzić do zaburzeń hemodynamiki serca, wpływając na przepływ krwi między lewymi jamami serca.3

Wrodzone wady zastawki mitralnej mogą manifestować się jako zwężenie zastawki (stenoza), niedomykalność zastawki (regurgitacja) lub kombinacja obu tych zaburzeń. Pacjenci mogą doświadczać różnorodnych objawów klinicznych, których nasilenie zależy nie tylko od funkcji zastawki, ale również od obecności towarzyszących wrodzonych wad serca.45

Klasyfikacja wrodzonych anomalii zastawki mitralnej

Na przestrzeni lat zaproponowano różne systemy klasyfikacji wrodzonych anomalii zastawki mitralnej. Jedne z pierwszych systematycznych ocen zostały przeprowadzone w 1971 roku przez Davachiego i współpracowników, którzy sklasyfikowali wrodzone wady zastawki mitralnej na podstawie badań pośmiertnych.6 W 1977 roku Collins-Nakai i współpracownicy zwrócili uwagę na ograniczenia tej klasyfikacji, zauważając, że 97% pacjentów z wrodzonym zwężeniem zastawki mitralnej miało nieprawidłowości dotyczące więcej niż jednego segmentu aparatu zastawkowego.7

W 1994 roku Moore i współpracownicy rozszerzyli klasyfikację van Praagha, dodając atypowe wrodzone zwężenie zastawki mitralnej, aby rozróżnić między grupami z symetrycznym (typowe zwężenie zastawki mitralnej) i asymetrycznym (atypowe zwężenie zastawki mitralnej) ułożeniem mięśni brodawkowatych.8

W 1976 roku Carpentier i współpracownicy wprowadzili system klasyfikacji chirurgicznej, specjalnie zaprojektowany, aby ułatwić opracowanie dostosowanych technik naprawy wrodzonych wad zastawki mitralnej.9 W 2008 roku Oppido i współpracownicy dodatkowo udoskonalili system klasyfikacji Carpentiera, dodając kolejny poziom – jakość tkanki płatka: normalną lub dysplastyczną.10

Diagnoza wrodzonych anomalii zastawki mitralnej

Diagnoza wrodzonych anomalii zastawki mitralnej opiera się na badaniu klinicznym, wywiadzie medycznym oraz szeregu testów diagnostycznych. Proces diagnostyczny ma kluczowe znaczenie dla określenia rodzaju i stopnia zaawansowania wady, co umożliwia zaplanowanie odpowiedniego leczenia.1112

Badanie fizykalne

Pierwszym krokiem w diagnostyce jest dokładne badanie fizykalne przeprowadzone przez lekarza specjalistę. Podczas badania lekarz osłuchuje serce i płuca pacjenta, poszukując nieprawidłowych dźwięków, takich jak szmery sercowe, które mogą świadczyć o obecności wady zastawki mitralnej.1314 Szmer sercowy jest często pierwszym sygnałem, który może wskazywać na obecność wrodzonej anomalii zastawki mitralnej.15

Lekarz zbiera również szczegółowy wywiad medyczny i rodzinny, aby uzyskać informacje o objawach i potencjalnych czynnikach ryzyka. Objawy, które mogą sugerować obecność wady zastawki mitralnej, to zmęczenie, duszność wysiłkowa oraz kołatanie serca.16

Podstawowe badania diagnostyczne

Po badaniu fizykalnym lekarz może zlecić podstawowe badania diagnostyczne, które pomagają potwierdzić rozpoznanie i ocenić stopień zaawansowania wady:17

  • Elektrokardiogram (EKG/ECG) – badanie rejestrujące aktywność elektryczną serca1819
  • Zdjęcie rentgenowskie klatki piersiowej – pozwala ocenić ogólny rozmiar i kształt serca20
  • Testy wysiłkowe – pozwalają ocenić, jak serce reaguje na obciążenie fizyczne21

Echokardiografia jako kluczowe badanie diagnostyczne

Echokardiografia jest najważniejszym narzędziem diagnostycznym w rozpoznawaniu wrodzonych anomalii zastawki mitralnej. To badanie wykorzystuje fale ultradźwiękowe do tworzenia obrazów bijącego serca, umożliwiając szczegółową ocenę struktury i funkcji zastawek serca oraz przepływu krwi przez serce.2223

Echokardiografia przezklatkowa (TTE)

Echokardiografia przezklatkowa jest podstawowym badaniem wykorzystywanym do diagnostyki wrodzonych anomalii zastawki mitralnej. Badanie to pozwala na:2425

  • Wizualizację struktury serca i zastawek serca
  • Ocenę przepływu krwi przez zastawkę mitralną
  • Identyfikację różnych typów wad zastawki mitralnej
  • Ocenę konsekwencji hemodynamicznych wady
  • Wykrycie towarzyszących wrodzonych wad serca

Echokardiogram jest uznawany za „złoty standard” w diagnostyce chorób zastawki mitralnej i umożliwia zarówno jakościową, jak i ilościową ocenę stopnia zaawansowania wady.262728

Echokardiografia przezprzełykowa (TEE)

W przypadkach, gdy standardowa echokardiografia przezklatkowa nie dostarcza wystarczających informacji, lekarz może zalecić wykonanie echokardiografii przezprzełykowej (TEE). Podczas tego badania giętka sonda zawierająca przetwornik jest wprowadzana przez gardło do przełyku, co umożliwia uzyskanie dokładniejszych obrazów serca.2930

Echokardiografia przezprzełykowa jest szczególnie przydatna w przypadkach, gdy:3132

  • Obrazy z echokardiografii przezklatkowej są niewystarczającej jakości
  • Potrzebna jest dokładniejsza ocena anatomii zastawki mitralnej
  • Planowany jest zabieg chirurgiczny lub interwencja przezskórna
  • Konieczne jest wykluczenie obecności skrzeplin wewnątrzsercowych

Echokardiografia trójwymiarowa (3D)

Znaczące postępy w diagnostyce obrazowej wrodzonych anomalii zastawki mitralnej zostały osiągnięte dzięki wdrożeniu technologii trójwymiarowej (3D). Echokardiografia 3D umożliwia lepsze zrozumienie anatomii zastawki i jej wad, dostarczając bardziej szczegółowych informacji na temat morfologii zastawki mitralnej.3334

Echokardiografia 3D jest szczególnie przydatna w:3536

W przypadku zastawki mitralnej z podwójnym ujściem (DOMV), badanie 2D może nie dostarczać wystarczających informacji do identyfikacji różnych typów tej wady. Wykonanie echokardiografii 3D jest przydatne w identyfikacji rodzaju morfologicznego i dostarczaniu dalszych informacji anatomicznych i funkcjonalnych, takich jak wielkość ujścia, liczba płatków i ich wzajemne relacje przestrzenne.3738

Specyficzne zastosowania echokardiografii w diagnostyce wrodzonych anomalii zastawki mitralnej

Diagnostyka wrodzonych postaci zwężenia zastawki mitralnej

Wrodzone zwężenie zastawki mitralnej (stenoza mitralna) rzadko występuje jako izolowana wada. Częstość występowania wynosi około 0,6% wśród pacjentów z wrodzonymi wadami serca poddanych autopsji i 0,21% do 0,42% przypadków klinicznych wrodzonych wad serca.39

Stenoza mitralna często współistnieje z ubytkiem przegrody międzykomorowej (VSD) w około 30% przypadków, ale najczęściej jest związana z niedorozwojem lewej części serca, zwężeniem drogi odpływu lewej komory (LVOTO) i zespołem Shone’a.40

Wrodzone zwężenie zastawki mitralnej klasyfikuje się na 4 typy na podstawie opisu nieprawidłowości zastawki, chociaż kilka typów ma wspólne cechy, takie jak krótkie, grube struny ścięgniste, zarastanie przestrzeni międzystrunowych i nieprawidłowe mięśnie brodawkowate.41

Echokardiografia jest najważniejszym narzędziem diagnostycznym do oceny pacjentów ze zwężeniem zastawki mitralnej, gdyż zapewnia doskonałą ocenę anatomiczną i hemodynamiczną tej wady.42 W diagnostyce zwężenia zastawki mitralnej echokardiografia umożliwia:43

  • Wizualizację nieprawidłowego ukształtowania aparatu zastawki mitralnej
  • Ocenę stopnia zwężenia
  • Pomiar gradientu przezzastawkowego
  • Wykrycie towarzyszących wad serca

Diagnostyka wrodzonych postaci niedomykalności zastawki mitralnej

Izolowana ciężka niedomykalność zastawki mitralnej (MR) jest rzadka u pacjentów pediatrycznych. Etiologia obejmuje pierwotne problemy z zastawką mitralną, takie jak szczelina (zwana również strefą kontaktu), gdy jest elementem ubytku przegrody przedsionkowo-komorowej (AVSD) lub wady kanału przedsionkowo-komorowego (AVC), lub wypadanie płatka zastawki mitralnej (MVP).44

Wypadanie zastawki mitralnej dotyczy 2-3% ogólnej populacji i jest częstą przyczyną niedomykalności zastawki mitralnej, choć mniej powszechną u dzieci.45

Najczęstszą etiologią tzw. szczeliny zastawki mitralnej jest nieprawidłowy rozwój płatków w wadzie kanału przedsionkowo-komorowego.46

Echokardiografia jest najcenniejszą techniką stosowaną do oceny niedomykalności zastawki mitralnej.47 W diagnostyce niedomykalności zastawki mitralnej echokardiografia umożliwia:48

  • Szczegółową ocenę płatków zastawki mitralnej w celu zdiagnozowania wypadania płatka, perforacji, wegetacji itp.
  • Pomiar objętościowy rozmiaru lewej komory i frakcji wyrzutowej
  • Ocenę stopnia niedomykalności
  • Identyfikację mechanizmów produkcji niedomykalności

Diagnostyka izolowanej szczeliny płatka zastawki mitralnej

Izolowana szczelina płatka zastawki mitralnej (CMVL) jest rzadką wadą, która może często być niedostatecznie rozpoznawana bez kompleksowej oceny echokardiograficznej z wykorzystaniem echokardiografii przezprzełykowej z obrazowaniem 3D.49

Diagnoza CMVL powszechnie stawiana jest za pomocą echokardiografii, szczególnie TEE z obrazowaniem 3D. Należy jednak zauważyć, że diagnoza CMVL przy użyciu echokardiografii przezklatkowej jest szczególnie trudna i często prowadzi do niedostatecznego rozpoznania.50

Badanie RT-3DE (Real-Time 3D Echocardiography) może być użyteczną alternatywą dla echokardiografii 2D. Jest to prosta i szybka technika obrazowania, z której można uzyskać szczegółowe obrazy 3D w celu potwierdzenia diagnozy szczeliny zastawki mitralnej.51

Diagnostyka rzadkich wrodzonych anomalii zastawki mitralnej

Niektóre rzadkie anomalie zastawki mitralnej, takie jak zastawka mitralna spadochronowa (PMV), mogą być trudne do zdiagnozowania w okresie prenatalnym. Jednak przy użyciu odpowiednich technik echokardiograficznych możliwe jest ich rozpoznanie już w drugim trymestrze ciąży.52

Innym przykładem rzadkiej anomalii jest dodatkowa tkanka zastawki mitralnej (AMVT), którą można zdiagnozować w okresie prenatalnym za pomocą echokardiografii płodowej.53

Mitralny łuk anomalny (MA) to kolejna rzadka wrodzona anomalia, w której diagnozie echokardiografia jest wysoce skuteczną metodą identyfikacji nieprawidłowości.54

Inne metody diagnostyczne

Chociaż echokardiografia jest podstawowym narzędziem diagnostycznym w ocenie wrodzonych anomalii zastawki mitralnej, inne metody diagnostyczne mogą być również stosowane jako uzupełnienie:55

Cewnikowanie serca

Cewnikowanie serca nie jest często stosowane do diagnostyki wad zastawki mitralnej, ale może być wykorzystane, gdy inne badania nie pozwalają na postawienie diagnozy.56 Badanie to pomaga lekarzowi zmierzyć przepływ krwi i ciśnienie po obu stronach zastawki mitralnej, co pozwala wykryć problemy ze zdolnością zastawki do regulowania przepływu krwi przez serce.57

Badania elektrofizjologiczne

Badanie elektrofizjologiczne to specjalistyczne cewnikowanie serca, które bada elektryczną funkcję serca lub funkcję rytmu, zamiast przepływu krwi. Funkcja rytmu serca kontroluje początek każdego uderzenia serca i kontroluje częstość akcji serca.58

Rezonans magnetyczny (MRI)

Rezonans magnetyczny serca może być wykorzystywany do diagnostyki wad zastawki mitralnej poprzez ocenę nieszczelnych lub zwężonych zastawek.59 Badanie to może być szczególnie przydatne w przypadkach, gdy echokardiografia nie dostarcza wystarczających informacji.60

Tomografia komputerowa (CT)

Tomografia komputerowa jest kolejnym badaniem obrazowym, które może być pomocne w diagnostyce wrodzonych anomalii zastawki mitralnej, szczególnie gdy inne metody obrazowe nie są wystarczające.61

Badania diagnostyczne prenatalne

Wrodzone anomalie zastawki mitralnej mogą być diagnozowane już w okresie prenatalnym. We współpracy z programami kardiologii płodowej, możliwe jest wykrywanie i diagnozowanie wad zastawki mitralnej oraz innych wrodzonych wad serca już w okresie płodowym.6263

Podczas ciąży testy przesiewowe (badania prenatalne) sprawdzają obecność wad wrodzonych i innych stanów. Badanie ultrasonograficzne, narzędzie tworzące obrazy płodu, może wykryć wrodzone anomalie zastawki mitralnej, jednak zależy to zwykle od rozmiaru lub typu wady.64

Dzięki zaawansowanym technikom obrazowania diagnostycznego możliwe jest precyzyjne zlokalizowanie wady, a potencjalnie także podjęcie interwencji przed urodzeniem za pomocą specjalistycznego leczenia wewnątrzmacicznego.65

Znaczenie dokładnej diagnostyki w planowaniu leczenia

Dokładna przedoperacyjna ocena diagnostyczna ma zasadnicze znaczenie dla oceny anatomii i funkcji zastawki mitralnej oraz planowania indywidualnie dostosowanych strategii chirurgicznych.66

Przezklatkowa dwuwymiarowa echokardiografia pozostaje standardową techniką diagnostyczną stosowaną w planowaniu chirurgicznym u dzieci. Ostatnio technika echokardiografii trójwymiarowej pomaga zaplanować strategię chirurgiczną, zapewniając lepszy widok anatomii zastawek i strun ścięgnistych, dostarczając precyzyjniejszego pomiaru pierścienia zastawki mitralnej, obszaru mitralnego i niedomykalności.67

Śródoperacyjna echokardiografia przezprzełykowa jest bardzo przydatna do oceny bezpośrednich wyników chirurgicznej naprawy zastawki mitralnej i identyfikacji wczesnej awarii technicznej.6869

Podejście multidyscyplinarne w diagnostyce

W diagnostyce wrodzonych anomalii zastawki mitralnej ważne jest podejście multidyscyplinarne. W wyspecjalizowanych ośrodkach, takich jak centra referencyjne zastawki mitralnej, zespół specjalistów w dziedzinie wad zastawki mitralnej współpracuje w celu postawienia diagnozy.70

Po zebraniu wywiadu medycznego i przeprowadzeniu badania fizykalnego, specjalista może zalecić wykonanie określonych testów przed postawieniem diagnozy wrodzonej anomalii zastawki mitralnej.71

Osoby urodzone z wrodzonymi anomaliami zastawki mitralnej wymagają dożywotnich kontroli zdrowotnych. Najlepiej, aby były pod opieką lekarza przeszkolonego w leczeniu wrodzonych wad serca.72

Podsumowanie diagnostyki wrodzonych anomalii zastawki mitralnej

Diagnostyka wrodzonych anomalii zastawki mitralnej opiera się na kompleksowym podejściu, które łączy badanie kliniczne, badania obrazowe i specjalistyczną ocenę. Echokardiografia pozostaje najważniejszym narzędziem diagnostycznym, umożliwiającym szczegółową ocenę anatomii i funkcji zastawki mitralnej.73

Postępy w technologii echokardiograficznej, szczególnie wprowadzenie obrazowania 3D, znacząco poprawiły nasze zdolności diagnostyczne w ocenie wrodzonych wad zastawki mitralnej. Jednakże nadal istnieją ograniczenia w ilościowej/półilościowej ocenie stopnia zaawansowania choroby, zarówno w odniesieniu do niedomykalności, jak i zwężenia zastawki.74

Wczesna i dokładna diagnoza jest kluczowa dla określenia optymalnego planu leczenia, który może obejmować leczenie zachowawcze, naprawę zastawki lub wymianę zastawki, w zależności od rodzaju i stopnia zaawansowania wady.7576

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  1. 10.04.2026
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Materiały źródłowe

  • #1 Congenital mitral valve anomalies | Beacon Health System
    https://www.beaconhealthsystem.org/library/diseases-and-conditions/congenital-mitral-valve-anomalies?content_id=CON-20359715
    Congenital mitral valve anomalies are types of heart valve disease that are present at birth. […] To diagnose congenital mitral valve anomalies, a healthcare professional does a physical exam and listens to the heart and lungs. A sound called a heart murmur may be heard. […] An echocardiogram is the main test used to diagnose the condition. The test also is called a heart ultrasound. It uses sound waves to make pictures of the beating heart. An echocardiogram can show the structure of the heart and heart valves and blood flow through the heart. […] Other tests, such as a chest X-ray or electrocardiogram (ECG or EKG), also may be done.
  • #2 Congenital mitral valve anomalies – Augusta HealthSearchClose SearchSearch IconSearch IconClose Search IconMobile Menu IconMobile Menu Close IconInstagramFacebookTwitterYoutube
    https://www.augustahealth.com/disease/congenital-mitral-valve-anomalies/
    Congenital mitral valve anomalies are heart problems present at birth (congenital heart defects) that affect the valve between the heart’s upper left chamber (left atrium) and lower left chamber (left ventricle). […] Your doctor will do a physical exam and ask questions about your signs and symptoms and your medical and family history. Your doctor will listen to your heart with a stethoscope to check for a heart murmur, which can be a sign of mitral valve disease. […] An echocardiogram is the main test used to diagnose congenital mitral valve anomalies. In an echocardiogram, sound waves create video images of your heart in motion. An echocardiogram can show the structure of the heart and heart valves and blood flow through the heart. […] If a standard echocardiogram doesn’t give your doctor enough information, you may need a transesophageal echocardiogram. During this test, a flexible probe containing the transducer is guided down your throat and into the tube connecting your mouth to your stomach (esophagus). […] Other tests, such as a chest X-ray or electrocardiogram (ECG or EKG), also may be done.
  • #3 Congenital Mitral Valve Abnormalities | SpringerLink
    https://link.springer.com/10.1007/978-3-031-07563-6_53
    Congenital mitral valve abnormalities are a group of diverse defects that can result in varied clinical presentations depending not only on valvular function but also on the presence of associated congenital heart defects. […] This chapter reviews congenital abnormalities of the mitral valve leading to stenosis and/or regurgitation including: supravalvar mitral ring, isolated cleft mitral valve, double orifice mitral valve, the spectrum of mitral valve dysplasia (and mitral arcade), parachute mitral valve, Ebstein malformation of mitral valve, and mitral valve prolapse. […] Echocardiographic evaluation of congenital mitral valve anomalies in children. […] Echocardiographic examination of mitral valve abnormalities in the paediatric population: current practices. […] Three-dimensional echocardiography in the assessment of congenital mitral valve disease. […] Surgical treatment of congenital mitral valve disease: Midterm results of a repair-oriented policy.
  • #4 Congenital mitral valve defects in pediatric population: a narrative review of surgical repair – Chen – Pediatric Medicine
    https://pm.amegroups.org/article/view/6593/html
    Congenital mitral valve malformations (CMVM) are rare and heterogeneous. The functional classification includes mitral regurgitation, stenosis, and combined lesions. Surgical strategies of CMVM remain challenging in the pediatric population due to various malformations, growth potential, the requirement of long-term anticoagulation, and the necessity of avoiding or delaying valve replacement. Surgical techniques for CMVM must be individually tailored for patients to achieve a proper valve function rather than normal anatomy. Compared with mitral repair, mitral valve replacement (MVR) is a less common procedure in children due to high mortality and morbidity rates. Options for cardiac valve replacement in children are limited to prostheses sizes that do not accommodate somatic growth, especially for neonates and infants. The need for lifelong anticoagulation may lead to adverse long-term pregnancy outcomes for female patients, limiting the application of MVR. This review aims to provide a comprehensive analysis of the current surgical techniques and developments for treating mitral valve (MV) regurgitation and stenosis and the outcome of various surgical strategies.
  • #5 Congenital Mitral Valve Abnormalities | SpringerLink
    https://link.springer.com/10.1007/978-3-030-42937-9_53-1
    Congenital mitral valve abnormalities are a group of diverse defects that can result in varied clinical presentations depending not only on valvular function but also on the presence of associated congenital heart defects. […] This chapter reviews congenital abnormalities of the mitral valve leading to stenosis and/or regurgitation including: supravalvar mitral ring, isolated cleft mitral valve, double orifice mitral valve, the spectrum of mitral valve dysplasia (and mitral arcade), parachute mitral valve, Ebstein malformation of mitral valve, and mitral valve prolapse. […] Echocardiographic evaluation of congenital mitral valve anomalies in children. […] Echocardiographic examination of mitral valve abnormalities in the paediatric population: current practices. […] The use of 3D echocardiography in surgical planning of the mitral valve in pediatric cardiology.
  • #6 Congenital Mitral Valve Anomalies | Thoracic Key
    https://thoracickey.com/congenital-mitral-valve-anomalies/
    Davachi and colleagues, in 1971, were one of the first to systematically assess and classify congenitally malformed mitral valves based on postmortem assessment (Davachi et al. 1971). […] In 1977, Collins-Nakai et al. critiqued this segmental classification as they noted 97 % (37 out of 38) of their patients with congenital mitral stenosis had more than one segment of the mitral valve apparatus affected (Collins-Nakai et al. 1977). […] In 1994, Moore et al. (1994) expanded van Praaghs classification by adding atypical congenital mitral stenosis to differentiate between groups with symmetrical (typical mitral stenosis) and asymmetrical (atypical mitral stenosis) papillary muscle arrangements. […] In 1976, Carpentier et al. (1976) introduced a surgical classification system to specifically facilitate the development of tailored techniques for congenital mitral valve repair.
  • #7 Congenital Mitral Valve Anomalies | Thoracic Key
    https://thoracickey.com/congenital-mitral-valve-anomalies/
    Davachi and colleagues, in 1971, were one of the first to systematically assess and classify congenitally malformed mitral valves based on postmortem assessment (Davachi et al. 1971). […] In 1977, Collins-Nakai et al. critiqued this segmental classification as they noted 97 % (37 out of 38) of their patients with congenital mitral stenosis had more than one segment of the mitral valve apparatus affected (Collins-Nakai et al. 1977). […] In 1994, Moore et al. (1994) expanded van Praaghs classification by adding atypical congenital mitral stenosis to differentiate between groups with symmetrical (typical mitral stenosis) and asymmetrical (atypical mitral stenosis) papillary muscle arrangements. […] In 1976, Carpentier et al. (1976) introduced a surgical classification system to specifically facilitate the development of tailored techniques for congenital mitral valve repair.
  • #8 Congenital Mitral Valve Anomalies | Thoracic Key
    https://thoracickey.com/congenital-mitral-valve-anomalies/
    Davachi and colleagues, in 1971, were one of the first to systematically assess and classify congenitally malformed mitral valves based on postmortem assessment (Davachi et al. 1971). […] In 1977, Collins-Nakai et al. critiqued this segmental classification as they noted 97 % (37 out of 38) of their patients with congenital mitral stenosis had more than one segment of the mitral valve apparatus affected (Collins-Nakai et al. 1977). […] In 1994, Moore et al. (1994) expanded van Praaghs classification by adding atypical congenital mitral stenosis to differentiate between groups with symmetrical (typical mitral stenosis) and asymmetrical (atypical mitral stenosis) papillary muscle arrangements. […] In 1976, Carpentier et al. (1976) introduced a surgical classification system to specifically facilitate the development of tailored techniques for congenital mitral valve repair.
  • #9 Congenital Mitral Valve Anomalies | Thoracic Key
    https://thoracickey.com/congenital-mitral-valve-anomalies/
    Davachi and colleagues, in 1971, were one of the first to systematically assess and classify congenitally malformed mitral valves based on postmortem assessment (Davachi et al. 1971). […] In 1977, Collins-Nakai et al. critiqued this segmental classification as they noted 97 % (37 out of 38) of their patients with congenital mitral stenosis had more than one segment of the mitral valve apparatus affected (Collins-Nakai et al. 1977). […] In 1994, Moore et al. (1994) expanded van Praaghs classification by adding atypical congenital mitral stenosis to differentiate between groups with symmetrical (typical mitral stenosis) and asymmetrical (atypical mitral stenosis) papillary muscle arrangements. […] In 1976, Carpentier et al. (1976) introduced a surgical classification system to specifically facilitate the development of tailored techniques for congenital mitral valve repair.
  • #10 Congenital Mitral Valve Anomalies | Thoracic Key
    https://thoracickey.com/congenital-mitral-valve-anomalies/
    In 2008, Oppido and colleagues (Oppido et al. 2008) further refined the classification system by adding a further level to Carpentiers classification, the quality of leaflet tissue: normal or dysplastic. […] The diagnosis of congenital mitral valve anomaly relies on the clinical findings, the chest radiography, the electrocardiogram (ECG), and most importantly the echocardiographic assessment. […] Echocardiography is the most important diagnostic tool to evaluate patients with mitral stenosis. This noninvasive imaging modality provides excellent anatomic and hemodynamic assessment of mitral stenosis. […] Transesophageal echocardiography is used when transthoracic echocardiographic pictures are inadequate. […] Echocardiography is the most valuable technique used to evaluate mitral regurgitation.
  • #11 Congenital Mitral Valve Anomalies | Thoracic Key
    https://thoracickey.com/congenital-mitral-valve-anomalies/
    In 2008, Oppido and colleagues (Oppido et al. 2008) further refined the classification system by adding a further level to Carpentiers classification, the quality of leaflet tissue: normal or dysplastic. […] The diagnosis of congenital mitral valve anomaly relies on the clinical findings, the chest radiography, the electrocardiogram (ECG), and most importantly the echocardiographic assessment. […] Echocardiography is the most important diagnostic tool to evaluate patients with mitral stenosis. This noninvasive imaging modality provides excellent anatomic and hemodynamic assessment of mitral stenosis. […] Transesophageal echocardiography is used when transthoracic echocardiographic pictures are inadequate. […] Echocardiography is the most valuable technique used to evaluate mitral regurgitation.
  • #12 Mitral Valve Abnormalities – Seattle Children’s
    https://www.seattlechildrens.org/conditions/mitral-valve-abnormalities/
    An abnormal mitral valve may become floppy and not close well (prolapse), it may allow blood to leak back from the left ventricle into the left atrium (regurgitation) or it may become narrow or tight (stenosis). […] To diagnose a problem with the mitral valve, your child’s doctor will examine your child. The doctor will use a stethoscope to listen for abnormal sounds in their heart (a murmur) or the sound of a valve not closing well. Sometimes doctors find valve problems after hearing a heart murmur in a child who appears well. […] Your child will need an echocardiogram so the doctor can see how their heart is working. […] They may need other tests that provide more information about their heart. These include: Electrocardiogram, Chest X-rays, MRI (magnetic resonance imaging) of the heart, Cardiac catheterization, Exercise testing.
  • #13 Congenital mitral valve anomalies | Beacon Health System
    https://www.beaconhealthsystem.org/library/diseases-and-conditions/congenital-mitral-valve-anomalies?content_id=CON-20359715
    Congenital mitral valve anomalies are types of heart valve disease that are present at birth. […] To diagnose congenital mitral valve anomalies, a healthcare professional does a physical exam and listens to the heart and lungs. A sound called a heart murmur may be heard. […] An echocardiogram is the main test used to diagnose the condition. The test also is called a heart ultrasound. It uses sound waves to make pictures of the beating heart. An echocardiogram can show the structure of the heart and heart valves and blood flow through the heart. […] Other tests, such as a chest X-ray or electrocardiogram (ECG or EKG), also may be done.
  • #14 Congenital mitral valve anomalies – Augusta HealthSearchClose SearchSearch IconSearch IconClose Search IconMobile Menu IconMobile Menu Close IconInstagramFacebookTwitterYoutube
    https://www.augustahealth.com/disease/congenital-mitral-valve-anomalies/
    Congenital mitral valve anomalies are heart problems present at birth (congenital heart defects) that affect the valve between the heart’s upper left chamber (left atrium) and lower left chamber (left ventricle). […] Your doctor will do a physical exam and ask questions about your signs and symptoms and your medical and family history. Your doctor will listen to your heart with a stethoscope to check for a heart murmur, which can be a sign of mitral valve disease. […] An echocardiogram is the main test used to diagnose congenital mitral valve anomalies. In an echocardiogram, sound waves create video images of your heart in motion. An echocardiogram can show the structure of the heart and heart valves and blood flow through the heart. […] If a standard echocardiogram doesn’t give your doctor enough information, you may need a transesophageal echocardiogram. During this test, a flexible probe containing the transducer is guided down your throat and into the tube connecting your mouth to your stomach (esophagus). […] Other tests, such as a chest X-ray or electrocardiogram (ECG or EKG), also may be done.
  • #15 Mitral Valve Defects | Children’s Hospital of Philadelphia
    https://www.chop.edu/conditions-diseases/mitral-valve-defects
    Mitral valve defects can be diagnosed using echocardiography, which uses sound waves to create an image of the heart. […] Diagnosis may also include chest X-ray, electrocardiogram (ECG), cardiac catheterization, and cardiac MRI. […] Your pediatrician may hear a heart murmur and refer your child to the Cardiac Center.
  • #16 Mitral Valve Disease and Diagnosis | Mount Sinai – New York
    https://www.mountsinai.org/care/heart/services/cardiac-surgery/mitral-valve/disease-diagnosis
    The human heart has four valves (flaps made of tissue) that control the direction of blood flow. […] If the mitral valve does not close completely, it can cause regurgitation, which causes blood to leak back into the left atrium. If the valve does not open completely, it can cause stenosis, which can obstruct blood flow. Both conditions increase the workload on the heart and are very serious conditions. If left untreated, they can lead to debilitating symptoms including arrhythmia, congestive heart failure, and irreversible heart damage. […] If you have leakage through your mitral valve, you might feel fatigued, find it difficult to exercise, or experience shortness of breath or palpitations. Symptoms might come and go. We usually get a hint that there is a valve issue when we listen to your heartbeat. We might hear a murmur, which would either sound like a ‘whooshing’ noise or an extra click, depending on the type of problem.
  • #17 Mitral Valve Abnormalities – Seattle Children’s
    https://www.seattlechildrens.org/conditions/mitral-valve-abnormalities/
    An abnormal mitral valve may become floppy and not close well (prolapse), it may allow blood to leak back from the left ventricle into the left atrium (regurgitation) or it may become narrow or tight (stenosis). […] To diagnose a problem with the mitral valve, your child’s doctor will examine your child. The doctor will use a stethoscope to listen for abnormal sounds in their heart (a murmur) or the sound of a valve not closing well. Sometimes doctors find valve problems after hearing a heart murmur in a child who appears well. […] Your child will need an echocardiogram so the doctor can see how their heart is working. […] They may need other tests that provide more information about their heart. These include: Electrocardiogram, Chest X-rays, MRI (magnetic resonance imaging) of the heart, Cardiac catheterization, Exercise testing.
  • #18 Congenital mitral valve anomalies | Beacon Health System
    https://www.beaconhealthsystem.org/library/diseases-and-conditions/congenital-mitral-valve-anomalies?content_id=CON-20359715
    Congenital mitral valve anomalies are types of heart valve disease that are present at birth. […] To diagnose congenital mitral valve anomalies, a healthcare professional does a physical exam and listens to the heart and lungs. A sound called a heart murmur may be heard. […] An echocardiogram is the main test used to diagnose the condition. The test also is called a heart ultrasound. It uses sound waves to make pictures of the beating heart. An echocardiogram can show the structure of the heart and heart valves and blood flow through the heart. […] Other tests, such as a chest X-ray or electrocardiogram (ECG or EKG), also may be done.
  • #19 Mitral Valve Disease
    https://www.rwjbh.org/treatment-care/heart-and-vascular-care/diseases-conditions/mitral-valve-disease/
    Mitral valve disease has many causes. Some forms of mitral valve disease can be present at birth (congenital) […] To diagnose mitral valve disease, your doctor may review your signs and symptoms, discuss your and your family’s medical history, and conduct a physical examination. Your doctor may listen to your heart with a stethoscope to determine if you have a heart murmur that may indicate a mitral valve condition. Your doctor may also order several tests to diagnose your condition and determine the cause and severity of your condition, including: […] Echocardiogram (ECHO) […] Computed tomography (CT scan) […] Magnetic resonance imaging (MRI) […] Cardiac catheterization […] X-Rays […] Electrocardiogram (EKG/ECG) […] Stress test.
  • #20 Congenital mitral valve anomalies – Augusta HealthSearchClose SearchSearch IconSearch IconClose Search IconMobile Menu IconMobile Menu Close IconInstagramFacebookTwitterYoutube
    https://www.augustahealth.com/disease/congenital-mitral-valve-anomalies/
    Congenital mitral valve anomalies are heart problems present at birth (congenital heart defects) that affect the valve between the heart’s upper left chamber (left atrium) and lower left chamber (left ventricle). […] Your doctor will do a physical exam and ask questions about your signs and symptoms and your medical and family history. Your doctor will listen to your heart with a stethoscope to check for a heart murmur, which can be a sign of mitral valve disease. […] An echocardiogram is the main test used to diagnose congenital mitral valve anomalies. In an echocardiogram, sound waves create video images of your heart in motion. An echocardiogram can show the structure of the heart and heart valves and blood flow through the heart. […] If a standard echocardiogram doesn’t give your doctor enough information, you may need a transesophageal echocardiogram. During this test, a flexible probe containing the transducer is guided down your throat and into the tube connecting your mouth to your stomach (esophagus). […] Other tests, such as a chest X-ray or electrocardiogram (ECG or EKG), also may be done.
  • #21 Mitral Valve Disease: Types, Causes, and Symptoms
    https://www.healthline.com/health/mitral-valve-disease
    How is mitral valve disease diagnosed? […] Your doctor may order additional tests to help confirm a mitral valve disease diagnosis. […] Echocardiogram: This test uses ultrasound waves to produce images of the hearts structure and function. […] Your doctor may want to monitor you while you exercise to determine how your heart responds to physical stress.
  • #22 Congenital mitral valve anomalies
    https://johnsonmemorial.org/jmh-health/disease-conditions/con-20359715
    Congenital mitral valve anomalies are problems with the valve between the heart’s two left chambers. That valve is called the mitral valve. Congenital means it is present at birth. […] An echocardiogram is the main test used to diagnose congenital mitral valve anomalies. In an echocardiogram, sound waves create video images of the beating heart. An echocardiogram can show the structure of the heart and heart valves and blood flow through the heart. […] Sometimes a standard echocardiogram doesn’t give enough information. Your provider may recommend another test called a transesophageal echocardiogram. During this test, a flexible probe containing the transducer passes down the throat and into the tube connecting the mouth to the stomach (esophagus).
  • #23 Mitral Valve Disease: Types, Symptoms and Treatment
    https://my.clevelandclinic.org/health/diseases/23235-mitral-valve-disease
    Mitral valve disease can be acquired (it develops over time as you get older) or congenital (you were born with it). […] Some babies are born with mitral valve problems. […] Congenital heart defect. Some people are born with mitral valve disease. It may be mild or severe. Babies with life-threatening defects need surgery right away. […] Mitral valve disease is diagnosed through a physical exam and tests. […] Echocardiography is the gold standard for diagnosing mitral valve disease. An echocardiogram (echo) uses ultrasound technology to check for valve disease and other heart problems.
  • #24 Understanding the role of echocardiography in the assessment of mitral valve disease
    https://www.escardio.org/Journals/E-Journal-of-Cardiology-Practice/Volume-16/Understanding-the-role-of-echocardiography-in-the-assessment-of-mitral-valve-disease
    Echocardiography is the main imaging modality to evaluate mitral valve abnormalities and to assess the severity and the haemodynamic consequences. […] The management plan and selection of intervention rely completely on echo assessment of valve morphology and extent of the disease. […] Transthoracic echocardiography is usually sufficient to evaluate mitral regurgitation and mitral stenosis. […] Transoesophageal echocardiography is required when the assessment is inadequate with transthoracic echocardiography and in order to exclude intracardiac thrombi before a percutaneous or surgical intervention. […] A detailed anatomical description of the MV is a crucial part of the assessment of MR. […] Based on this evaluation, it is possible to differentiate between primary and secondary chronic MR.
  • #25 Congenital mitral valve anomalies – Augusta HealthSearchClose SearchSearch IconSearch IconClose Search IconMobile Menu IconMobile Menu Close IconInstagramFacebookTwitterYoutube
    https://www.augustahealth.com/disease/congenital-mitral-valve-anomalies/
    Congenital mitral valve anomalies are heart problems present at birth (congenital heart defects) that affect the valve between the heart’s upper left chamber (left atrium) and lower left chamber (left ventricle). […] Your doctor will do a physical exam and ask questions about your signs and symptoms and your medical and family history. Your doctor will listen to your heart with a stethoscope to check for a heart murmur, which can be a sign of mitral valve disease. […] An echocardiogram is the main test used to diagnose congenital mitral valve anomalies. In an echocardiogram, sound waves create video images of your heart in motion. An echocardiogram can show the structure of the heart and heart valves and blood flow through the heart. […] If a standard echocardiogram doesn’t give your doctor enough information, you may need a transesophageal echocardiogram. During this test, a flexible probe containing the transducer is guided down your throat and into the tube connecting your mouth to your stomach (esophagus). […] Other tests, such as a chest X-ray or electrocardiogram (ECG or EKG), also may be done.
  • #26 Mitral valve disease – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/mitral-valve-disease/diagnosis-treatment/drc-20355112
    To diagnose mitral valve disease, including mitral valve stenosis and mitral valve regurgitation, a health care professional examines you and asks questions about your medical history. […] An echocardiogram can help in the diagnosis of congenital mitral valve disease, rheumatic mitral valve disease and other heart valve conditions. […] Cardiac catheterization isn’t often used to diagnose mitral valve disease, but it may be used if other tests haven’t diagnosed the condition.
  • #27 Mitral Valve Disease: Types, Symptoms and Treatment
    https://my.clevelandclinic.org/health/diseases/23235-mitral-valve-disease
    Mitral valve disease can be acquired (it develops over time as you get older) or congenital (you were born with it). […] Some babies are born with mitral valve problems. […] Congenital heart defect. Some people are born with mitral valve disease. It may be mild or severe. Babies with life-threatening defects need surgery right away. […] Mitral valve disease is diagnosed through a physical exam and tests. […] Echocardiography is the gold standard for diagnosing mitral valve disease. An echocardiogram (echo) uses ultrasound technology to check for valve disease and other heart problems.
  • #28 Understanding the role of echocardiography in the assessment of mitral valve disease
    https://www.escardio.org/Journals/E-Journal-of-Cardiology-Practice/Volume-16/Understanding-the-role-of-echocardiography-in-the-assessment-of-mitral-valve-disease
    Echocardiography is the main imaging modality to evaluate mitral valve abnormalities and to assess the severity and the haemodynamic consequences. […] The management plan and selection of intervention rely completely on echo assessment of valve morphology and extent of the disease. […] Transthoracic echocardiography is usually sufficient to evaluate mitral regurgitation and mitral stenosis. […] Transoesophageal echocardiography is required when the assessment is inadequate with transthoracic echocardiography and in order to exclude intracardiac thrombi before a percutaneous or surgical intervention. […] A detailed anatomical description of the MV is a crucial part of the assessment of MR. […] Based on this evaluation, it is possible to differentiate between primary and secondary chronic MR.
  • #29 Congenital mitral valve anomalies – Augusta HealthSearchClose SearchSearch IconSearch IconClose Search IconMobile Menu IconMobile Menu Close IconInstagramFacebookTwitterYoutube
    https://www.augustahealth.com/disease/congenital-mitral-valve-anomalies/
    Congenital mitral valve anomalies are heart problems present at birth (congenital heart defects) that affect the valve between the heart’s upper left chamber (left atrium) and lower left chamber (left ventricle). […] Your doctor will do a physical exam and ask questions about your signs and symptoms and your medical and family history. Your doctor will listen to your heart with a stethoscope to check for a heart murmur, which can be a sign of mitral valve disease. […] An echocardiogram is the main test used to diagnose congenital mitral valve anomalies. In an echocardiogram, sound waves create video images of your heart in motion. An echocardiogram can show the structure of the heart and heart valves and blood flow through the heart. […] If a standard echocardiogram doesn’t give your doctor enough information, you may need a transesophageal echocardiogram. During this test, a flexible probe containing the transducer is guided down your throat and into the tube connecting your mouth to your stomach (esophagus). […] Other tests, such as a chest X-ray or electrocardiogram (ECG or EKG), also may be done.
  • #30 Congenital mitral valve anomalies
    https://johnsonmemorial.org/jmh-health/disease-conditions/con-20359715
    Congenital mitral valve anomalies are problems with the valve between the heart’s two left chambers. That valve is called the mitral valve. Congenital means it is present at birth. […] An echocardiogram is the main test used to diagnose congenital mitral valve anomalies. In an echocardiogram, sound waves create video images of the beating heart. An echocardiogram can show the structure of the heart and heart valves and blood flow through the heart. […] Sometimes a standard echocardiogram doesn’t give enough information. Your provider may recommend another test called a transesophageal echocardiogram. During this test, a flexible probe containing the transducer passes down the throat and into the tube connecting the mouth to the stomach (esophagus).
  • #31 Congenital Mitral Valve Anomalies | Thoracic Key
    https://thoracickey.com/congenital-mitral-valve-anomalies/
    In 2008, Oppido and colleagues (Oppido et al. 2008) further refined the classification system by adding a further level to Carpentiers classification, the quality of leaflet tissue: normal or dysplastic. […] The diagnosis of congenital mitral valve anomaly relies on the clinical findings, the chest radiography, the electrocardiogram (ECG), and most importantly the echocardiographic assessment. […] Echocardiography is the most important diagnostic tool to evaluate patients with mitral stenosis. This noninvasive imaging modality provides excellent anatomic and hemodynamic assessment of mitral stenosis. […] Transesophageal echocardiography is used when transthoracic echocardiographic pictures are inadequate. […] Echocardiography is the most valuable technique used to evaluate mitral regurgitation.
  • #32 Common Tests for Congenital Heart Defects | American Heart Association
    https://www.heart.org/en/health-topics/congenital-heart-defects/symptoms–diagnosis-of-congenital-heart-defects/common-tests-for-congenital-heart-defects
    An echocardiogram is an ultrasound movie of the inside of the heart. It can detect nearly every congenital heart defect or any problem of the heart muscle function. […] Your cardiologist may recommend a TEE when the standard echocardiogram isn’t clear enough to make the suspected diagnosis or if you are having heart surgery so the surgeon and anesthesia team have more information to guide treatment after surgery. This occurs most frequently in adolescent and adult patients. […] An electrophysiology study is a specialized cardiac catheterization that looks at the heart’s electrical or rhythm function instead of its blood flow. The heart’s rhythm function is what controls the start of each heartbeat and controls the heart rate.
  • #33 Congenital malformations of the mitral valve – PubMed
    https://pubmed.ncbi.nlm.nih.gov/21944149/
    Congenital malformations of the mitral valve may be encountered in isolation or in association with other congenital heart defects. […] As a perfect preoperative assessment is of importance, good knowledge of both normal and abnormal anatomy is required in order to guide the surgeon accurately. […] This review presents the different embryological, anatomical and echocardiographic aspects of the congenital mitral anomalies.
  • #34 Echocardiographic examination of mitral valve abnormalities in the paediatric population: current practices | Cardiology in the Young | Cambridge Core
    https://www.cambridge.org/core/journals/cardiology-in-the-young/article/echocardiographic-examination-of-mitral-valve-abnormalities-in-the-paediatric-population-current-practices/219098841D70432B332BC0051C97D6C6
    We reviewed the recent literature for echocardiographic assessment of mitral valve abnormalities in children. […] Significant advances in echocardiographic imaging of mitral valve defects, mainly due to the implementation of three-dimensional technology, contribute to a better understanding of the underlying anatomy. […] However, heterogeneity between classification systems of mitral valve disease severity is a serious problem. […] For regurgitant lesions, there is only very limited evidence from small studies that support the adoption of quantitative/semi-quantitative indexes commonly employed in adults. […] Despite the lack of evidence base, qualitative evaluation of regurgitation severity is often employed. […] For stenotic lesions, no clear categorisation based on trans-valvular echocardiography-derived gradients has been consistently applied to define mild, moderate, or severe obstruction across different paediatric age ranges.
  • #35 Congenital Mitral Valve Abnormalities | SpringerLink
    https://link.springer.com/10.1007/978-3-030-42937-9_53-1
    Three-dimensional echocardiography in congenital heart disease: an expert consensus document from the European Association of Cardiovascular Imaging and the American Society of Echocardiography. […] Three-dimensional echocardiography in the assessment of congenital mitral valve disease. […] Review of congenital mitral valve stenosis: analysis, repair techniques and outcomes. […] Surgical treatment of congenital mitral valve disease: Midterm results of a repair-oriented policy.
  • #36 Two Holes in One: A Rare Case of Congenital Mitral Valve Anomaly | Congenital Mitral Valve Anomaly
    https://www.japscjournal.com/articles/two-holes-one-rare-case-congenital-mitral-valve-anomaly?language_content_entity=en
    Performing 3D echocardiography is useful in identifying the morphology type and providing further anatomical and functional information, such as orifice size, number of leaflets and spatial relationship, and identifying associated congenital heart anomalies that had not been seen in transthoracic 2D echocardiography. […] Management would depend on the severity of the valvular stenosis and/or regurgitation, associated congenital defects and clinical presentation. Asymptomatic DOMV usually requires no active intervention; in cases of severe mitral regurgitation, stenosis or associated cardiac anomalies, surgical repair is needed. […] In our case, as symptoms and concomitant abnormalities were absent, regular long-term follow-up was advised for the early detection of complications and no active medical or surgical intervention was warranted.
  • #37 Two Holes in One: A Rare Case of Congenital Mitral Valve Anomaly | Congenital Mitral Valve Anomaly
    https://www.japscjournal.com/articles/two-holes-one-rare-case-congenital-mitral-valve-anomaly?language_content_entity=en
    Double orifice mitral valve (DOMV) is a rare anomaly, characterised by a mitral valve with a single fibrous annulus resulting in two orifices. […] The authors are reporting this case to provide information in identifying DOMV using 2D and 3D imaging. […] Additional imaging using 2D and 3D transoesophageal echocardiography was performed to assess the mitral valve morphology, function and possible associated anomalies. […] The purpose of reporting this case is to provide information to help identify DOMV by using 2D and 3D imaging since there are no published cases in our local setting to the best of our knowledge. […] DOMV is usually detected by 2D echocardiographic examination in short-axis parasternal views. However, information obtained by 2D echocardiography may not be sufficient to enable identification of the different types of DOMV.
  • #38 Two Holes in One: A Rare Case of Congenital Mitral Valve Anomaly | Congenital Mitral Valve Anomaly
    https://www.japscjournal.com/articles/two-holes-one-rare-case-congenital-mitral-valve-anomaly?language_content_entity=en
    Performing 3D echocardiography is useful in identifying the morphology type and providing further anatomical and functional information, such as orifice size, number of leaflets and spatial relationship, and identifying associated congenital heart anomalies that had not been seen in transthoracic 2D echocardiography. […] Management would depend on the severity of the valvular stenosis and/or regurgitation, associated congenital defects and clinical presentation. Asymptomatic DOMV usually requires no active intervention; in cases of severe mitral regurgitation, stenosis or associated cardiac anomalies, surgical repair is needed. […] In our case, as symptoms and concomitant abnormalities were absent, regular long-term follow-up was advised for the early detection of complications and no active medical or surgical intervention was warranted.
  • #39 Part 2 – Transesophageal Echocardiography in Congenital Mitral Valve Disease – Congenital Cardiac Anesthesia Society
    https://ccasociety.org/education/echoimage/transesophageal-echocardiography-in-congenital-mitral-valve-disease-part-2/
    This manuscript describes the transesophageal echocardiographic findings of selected congenital lesions of the mitral valve (MV). […] Please see part 1 of this contribution for a review of the comprehensive transesophageal echocardiographic examination of the MV. […] Congenital mitral stenosis (MS) rarely occurs in isolation. The incidence is about 0.6% of autopsied patients with congenital heart disease (CHD) and 0.21% to 0.42% of clinical cases of CHD. […] It coexists with a ventricular septal defect (VSD) in about 30% of cases, but is most commonly associated with left heart underdevelopment, left ventricular outflow tract obstruction (LVOTO), and Shones complex. […] Congenital MS is classified into 4 types by a description of the valve abnormality although several types share common features such as short thick chords, obliteration of interchordal spaces and abnormal papillary muscles.
  • #40 Part 2 – Transesophageal Echocardiography in Congenital Mitral Valve Disease – Congenital Cardiac Anesthesia Society
    https://ccasociety.org/education/echoimage/transesophageal-echocardiography-in-congenital-mitral-valve-disease-part-2/
    This manuscript describes the transesophageal echocardiographic findings of selected congenital lesions of the mitral valve (MV). […] Please see part 1 of this contribution for a review of the comprehensive transesophageal echocardiographic examination of the MV. […] Congenital mitral stenosis (MS) rarely occurs in isolation. The incidence is about 0.6% of autopsied patients with congenital heart disease (CHD) and 0.21% to 0.42% of clinical cases of CHD. […] It coexists with a ventricular septal defect (VSD) in about 30% of cases, but is most commonly associated with left heart underdevelopment, left ventricular outflow tract obstruction (LVOTO), and Shones complex. […] Congenital MS is classified into 4 types by a description of the valve abnormality although several types share common features such as short thick chords, obliteration of interchordal spaces and abnormal papillary muscles.
  • #41 Part 2 – Transesophageal Echocardiography in Congenital Mitral Valve Disease – Congenital Cardiac Anesthesia Society
    https://ccasociety.org/education/echoimage/transesophageal-echocardiography-in-congenital-mitral-valve-disease-part-2/
    This manuscript describes the transesophageal echocardiographic findings of selected congenital lesions of the mitral valve (MV). […] Please see part 1 of this contribution for a review of the comprehensive transesophageal echocardiographic examination of the MV. […] Congenital mitral stenosis (MS) rarely occurs in isolation. The incidence is about 0.6% of autopsied patients with congenital heart disease (CHD) and 0.21% to 0.42% of clinical cases of CHD. […] It coexists with a ventricular septal defect (VSD) in about 30% of cases, but is most commonly associated with left heart underdevelopment, left ventricular outflow tract obstruction (LVOTO), and Shones complex. […] Congenital MS is classified into 4 types by a description of the valve abnormality although several types share common features such as short thick chords, obliteration of interchordal spaces and abnormal papillary muscles.
  • #42 Congenital Mitral Valve Anomalies | Thoracic Key
    https://thoracickey.com/congenital-mitral-valve-anomalies/
    In 2008, Oppido and colleagues (Oppido et al. 2008) further refined the classification system by adding a further level to Carpentiers classification, the quality of leaflet tissue: normal or dysplastic. […] The diagnosis of congenital mitral valve anomaly relies on the clinical findings, the chest radiography, the electrocardiogram (ECG), and most importantly the echocardiographic assessment. […] Echocardiography is the most important diagnostic tool to evaluate patients with mitral stenosis. This noninvasive imaging modality provides excellent anatomic and hemodynamic assessment of mitral stenosis. […] Transesophageal echocardiography is used when transthoracic echocardiographic pictures are inadequate. […] Echocardiography is the most valuable technique used to evaluate mitral regurgitation.
  • #43 Mitral Valve Dysplasia in Animals – Circulatory System – Merck Veterinary Manual
    https://www.merckvetmanual.com/circulatory-system/congenital-and-inherited-anomalies-of-the-cardiovascular-system/mitral-valve-dysplasia-in-animals
    Mitral valve dysplasia is a congenital malformation of the mitral valve leaflets or any other component(s) of the mitral valve complex. […] The diagnosis is made by echocardiography, and treatment of CHF, if present, is indicated. […] Echocardiography shows malformation of various components of the mitral valve apparatus, with varying degrees of regurgitation and, less often, stenosis. […] Echocardiography demonstrates malformation of the mitral valve complex (fused chordae tendineae and thickened, immobile valve leaflets, abnormal appearance to the papillary muscles) and left atrial and ventricular dilatation. […] Evidence of mitral stenosis can be identified on the echocardiogram.
  • #44 Part 2 – Transesophageal Echocardiography in Congenital Mitral Valve Disease – Congenital Cardiac Anesthesia Society
    https://ccasociety.org/education/echoimage/transesophageal-echocardiography-in-congenital-mitral-valve-disease-part-2/
    Isolated severe mitral regurgitation (MR) is rare in pediatric patients. Etiologies include primary problems with the MV such as a cleft, also referred to as zone of apposition, when a component of an atrioventricular septal (AVSD) or canal defect (AVC), or mitral valve prolapse (MVP). […] Mitral Valve Prolapse affects 2-3% of the general population and is a common cause of MR, although less common in children. […] The most common etiology of the so-called MV cleft is abnormal development of the leaflets in an AVC defect. […] Abnormal function of the MV apparatus can occur in conditions such as dilated and hypertrophic cardiomyopathy (HOCM), because of abnormalities in the location, size, and/or shape of the papillary muscles.
  • #45 Part 2 – Transesophageal Echocardiography in Congenital Mitral Valve Disease – Congenital Cardiac Anesthesia Society
    https://ccasociety.org/education/echoimage/transesophageal-echocardiography-in-congenital-mitral-valve-disease-part-2/
    Isolated severe mitral regurgitation (MR) is rare in pediatric patients. Etiologies include primary problems with the MV such as a cleft, also referred to as zone of apposition, when a component of an atrioventricular septal (AVSD) or canal defect (AVC), or mitral valve prolapse (MVP). […] Mitral Valve Prolapse affects 2-3% of the general population and is a common cause of MR, although less common in children. […] The most common etiology of the so-called MV cleft is abnormal development of the leaflets in an AVC defect. […] Abnormal function of the MV apparatus can occur in conditions such as dilated and hypertrophic cardiomyopathy (HOCM), because of abnormalities in the location, size, and/or shape of the papillary muscles.
  • #46 Part 2 – Transesophageal Echocardiography in Congenital Mitral Valve Disease – Congenital Cardiac Anesthesia Society
    https://ccasociety.org/education/echoimage/transesophageal-echocardiography-in-congenital-mitral-valve-disease-part-2/
    Isolated severe mitral regurgitation (MR) is rare in pediatric patients. Etiologies include primary problems with the MV such as a cleft, also referred to as zone of apposition, when a component of an atrioventricular septal (AVSD) or canal defect (AVC), or mitral valve prolapse (MVP). […] Mitral Valve Prolapse affects 2-3% of the general population and is a common cause of MR, although less common in children. […] The most common etiology of the so-called MV cleft is abnormal development of the leaflets in an AVC defect. […] Abnormal function of the MV apparatus can occur in conditions such as dilated and hypertrophic cardiomyopathy (HOCM), because of abnormalities in the location, size, and/or shape of the papillary muscles.
  • #47 Congenital Mitral Valve Anomalies | Thoracic Key
    https://thoracickey.com/congenital-mitral-valve-anomalies/
    In 2008, Oppido and colleagues (Oppido et al. 2008) further refined the classification system by adding a further level to Carpentiers classification, the quality of leaflet tissue: normal or dysplastic. […] The diagnosis of congenital mitral valve anomaly relies on the clinical findings, the chest radiography, the electrocardiogram (ECG), and most importantly the echocardiographic assessment. […] Echocardiography is the most important diagnostic tool to evaluate patients with mitral stenosis. This noninvasive imaging modality provides excellent anatomic and hemodynamic assessment of mitral stenosis. […] Transesophageal echocardiography is used when transthoracic echocardiographic pictures are inadequate. […] Echocardiography is the most valuable technique used to evaluate mitral regurgitation.
  • #48 Understanding the role of echocardiography in the assessment of mitral valve disease
    https://www.escardio.org/Journals/E-Journal-of-Cardiology-Practice/Volume-16/Understanding-the-role-of-echocardiography-in-the-assessment-of-mitral-valve-disease
    In chronic primary MR, echocardiography helps in detailed assessment of the MV leaflets to diagnose prolapsed scallop(s), flail leaflet, perforation, vegetation, etc. […] In chronic secondary MR, echocardiography helps in volumetric measurement of LV size and ejection fraction. […] Echocardiography (2D and 3D) via transthoracic and transoesophageal approaches plays an important role in the assessment of mitral valve disease (MVD). […] Echocardiography is considered as a class I diagnostic test indication in the latest AHA/ACC valvular heart disease guidelines because it helps in verifying the diagnosis of MS and assessing its severity through both qualitative and quantitative assessment. […] The criteria used to define severe MR using previous parameters are displayed in Table 1. […] Echocardiography provides sufficiently detailed images of the MV and is the most important diagnostic tool in establishing the diagnosis, depicting the severity of the lesion, and for appropriate clinical decision making.
  • #49 Isolated congenital cleft mitral valve leaflet: a rare cause of refractory cardiogenic shock complicating acute myocardial infarction | Journal of Congenital Cardiology | Full Text
    https://jcongenitalcardiology.biomedcentral.com/articles/10.1186/s40949-021-00062-2
    We report a unique presentation of isolated congenital cleft mitral valve complicating cardiogenic shock from acute myocardial infarction. Isolated cleft mitral valve is an uncommon diagnosis that can have significant clinical implications, especially if not recognized in patients presenting to the catheterization lab with acute myocardial infarction and cardiogenic shock. […] In conclusion, isolated cleft mitral valve is a rare diagnosis that can often be underrecognized without comprehensive 3-dimensional transesophageal echocardiography evaluation. If diagnosed early with significant regurgitation, surgical treatment results in good outcomes and preservation of LV systolic function. […] The diagnosis of CMVL is commonly made my echocardiography, particularly TEE with 3-D acquisition. While an isolated CMVL is rare, it must be acknowledged that the diagnosis of CMVL using transthoracic echocardiography is particularly challenging and often leads to under recognition.
  • #50 Isolated congenital cleft mitral valve leaflet: a rare cause of refractory cardiogenic shock complicating acute myocardial infarction | Journal of Congenital Cardiology | Full Text
    https://jcongenitalcardiology.biomedcentral.com/articles/10.1186/s40949-021-00062-2
    We report a unique presentation of isolated congenital cleft mitral valve complicating cardiogenic shock from acute myocardial infarction. Isolated cleft mitral valve is an uncommon diagnosis that can have significant clinical implications, especially if not recognized in patients presenting to the catheterization lab with acute myocardial infarction and cardiogenic shock. […] In conclusion, isolated cleft mitral valve is a rare diagnosis that can often be underrecognized without comprehensive 3-dimensional transesophageal echocardiography evaluation. If diagnosed early with significant regurgitation, surgical treatment results in good outcomes and preservation of LV systolic function. […] The diagnosis of CMVL is commonly made my echocardiography, particularly TEE with 3-D acquisition. While an isolated CMVL is rare, it must be acknowledged that the diagnosis of CMVL using transthoracic echocardiography is particularly challenging and often leads to under recognition.
  • #51 Diagnosis of mitral valve cleft using real-time 3-dimensional echocardiography – Yuan – Journal of Thoracic Disease
    https://jtd.amegroups.org/article/view/11605/html
    RT-3DE is considered to be an important preoperative test that provides more comprehensive information for selecting a subsequent procedure for treatment. […] Therefore, it is important to determine the location, shape and size of the MVC when selecting a surgical procedure for treatment. […] The intraoperative findings demonstrated that the location, shape, and degree of damage to the leaflet cleft were completely consistent with the preoperative diagnosis by 3D echocardiography. […] Therefore, accurate localization of mitral valve leaflet clefts and evaluation of the magnitude of valve leaflet damage and regurgitation are key factors for successful surgeries. […] RT-3DE can serve as a useful alternative to 2D echocardiography. It is a simple and fast imaging technique from which detailed 3D images can be obtained to confirm a diagnosis of MVC. […] RT-3DE has important clinical significance and broad prospects for application.
  • #52 Can prenatal diagnosis of parachute mitral valve be achieved? A case report of fetal parachute mitral valve | Cardiovascular Ultrasound | Full Text
    https://cardiovascularultrasound.biomedcentral.com/articles/10.1186/s12947-022-00288-z
    Parachute mitral valve (PMV) is a common form of congenital mitral stenosis and is difficult to diagnose prenatally. This report describes a fetal case of PMV with coarctation of the aorta that was diagnosed at 25 weeks gestation by echocardiography and confirmed at autopsy. We describe the ultrasonographic features in this case and present a useful sign for making a prenatal diagnosis of PMV. […] Prenatal diagnosis of PMV is challenging. In this report, we describe a case of fetal PMV that was diagnosed by echocardiography and confirmed to be parachute-like asymmetric mitral valve (PLAMV) at autopsy. […] PMV usually results in congenital MS and is often associated with multiple levels of left heart obstruction, known as Shones syndrome. […] Prenatal diagnosis of PMV by ultrasound is challenging, and the condition is usually diagnosed after birth. […] The sign in a fetal mitral valve is an important clue for diagnosis of PMV. This sign provides a strong basis for the diagnosis of fetal PMV in the second trimester of pregnancy and may help to improve the ability to detect this entity.
  • #53 Prenatal diagnosis of accessory mitral valve tissue in a fetus with persistent dysrhythmia | The Egyptian Heart Journal | Full Text
    https://tehj.springeropen.com/articles/10.1186/s43044-022-00263-z
    Accessory mitral valve tissue (AMVT) is a rare congenital cardiac anomaly that mainly diagnosed in the first decade of life. However, asymptomatic cases may not be diagnosed even up to adulthood. […] The diagnosis of AMVT in the prenatal period is possible by fetal echocardiography. […] The AMVT is a rare cardiac anomaly which could be diagnosed in prenatal period in association with other structural cardiac anomalies such as ventricular diverticulum or presented as fetal dysrhythmia including ventricular premature beats.
  • #54 Challenges of managing anomalous mitral arcade with severe mitral regurgitation and hydrops fetalis in infants | BMJ Case Reports
    https://casereports.bmj.com/content/17/6/e259272
    Anomalous mitral arcade (MA) is a rare congenital anomaly. […] Limited data are available on the medical management of this condition, and surgical repair in this age group is technically challenging. […] Echocardiography was a highly effective modality in identifying the anomaly in this case. […] However, notably, relying solely on a single imaging plane may hinder the comprehensive evaluation of MV apparatus anomalies and associated functional disturbances. […] The initial medical management of MA focuses on controlling CHF resulting from MV insufficiency. […] Surgical decision-making should be considered when severe CHF is refractory to medical therapy. […] The choice of surgical options depends on the experience of the specific institute.
  • #55 Mitral Valve Disease
    https://www.rwjbh.org/treatment-care/heart-and-vascular-care/diseases-conditions/mitral-valve-disease/
    Mitral valve disease has many causes. Some forms of mitral valve disease can be present at birth (congenital) […] To diagnose mitral valve disease, your doctor may review your signs and symptoms, discuss your and your family’s medical history, and conduct a physical examination. Your doctor may listen to your heart with a stethoscope to determine if you have a heart murmur that may indicate a mitral valve condition. Your doctor may also order several tests to diagnose your condition and determine the cause and severity of your condition, including: […] Echocardiogram (ECHO) […] Computed tomography (CT scan) […] Magnetic resonance imaging (MRI) […] Cardiac catheterization […] X-Rays […] Electrocardiogram (EKG/ECG) […] Stress test.
  • #56 Mitral valve disease – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/mitral-valve-disease/diagnosis-treatment/drc-20355112
    To diagnose mitral valve disease, including mitral valve stenosis and mitral valve regurgitation, a health care professional examines you and asks questions about your medical history. […] An echocardiogram can help in the diagnosis of congenital mitral valve disease, rheumatic mitral valve disease and other heart valve conditions. […] Cardiac catheterization isn’t often used to diagnose mitral valve disease, but it may be used if other tests haven’t diagnosed the condition.
  • #57 Diagnosing Mitral Valve Disease | NYU Langone Health
    https://nyulangone.org/conditions/mitral-valve-disease/diagnosis
    At NYU Langones Heart Valve Center, our team of heart valve specialists works together to diagnose mitral valve disease. […] After taking a medical history and conducting a physical exam, your NYU Langone specialist may recommend that certain tests be performed before making a diagnosis of mitral valve disease. […] The echocardiogram remains the gold standard imaging technique for diagnosing and quantifying heart valve dysfunction. […] Cardiac catheterization can help your doctor measure the blood flow and pressure on both sides of the mitral valve. This helps the doctor detect problems with the valves ability to regulate blood flow through the heart.
  • #58 Common Tests for Congenital Heart Defects | American Heart Association
    https://www.heart.org/en/health-topics/congenital-heart-defects/symptoms–diagnosis-of-congenital-heart-defects/common-tests-for-congenital-heart-defects
    An echocardiogram is an ultrasound movie of the inside of the heart. It can detect nearly every congenital heart defect or any problem of the heart muscle function. […] Your cardiologist may recommend a TEE when the standard echocardiogram isn’t clear enough to make the suspected diagnosis or if you are having heart surgery so the surgeon and anesthesia team have more information to guide treatment after surgery. This occurs most frequently in adolescent and adult patients. […] An electrophysiology study is a specialized cardiac catheterization that looks at the heart’s electrical or rhythm function instead of its blood flow. The heart’s rhythm function is what controls the start of each heartbeat and controls the heart rate.
  • #59 Mitral Valve Regurgitation | Diagnosis | UK Healthcare
    https://ukhealthcare.uky.edu/gill-heart-vascular-institute/conditions/structural-heart-disease/mitral-valve-regurgitation/diagnosis
    Several tests are used to diagnose the presence and severity of mitral valve regurgitation. […] A transthoracic echocardiogram (TTE) can confirm a diagnosis of mitral valve regurgitation. […] Using cardiac MRI, your physician can diagnose heart valve disease by evaluating leaky or narrowed valves.
  • #60 Mitral Valve Abnormalities – Seattle Children’s
    https://www.seattlechildrens.org/conditions/mitral-valve-abnormalities/
    An abnormal mitral valve may become floppy and not close well (prolapse), it may allow blood to leak back from the left ventricle into the left atrium (regurgitation) or it may become narrow or tight (stenosis). […] To diagnose a problem with the mitral valve, your child’s doctor will examine your child. The doctor will use a stethoscope to listen for abnormal sounds in their heart (a murmur) or the sound of a valve not closing well. Sometimes doctors find valve problems after hearing a heart murmur in a child who appears well. […] Your child will need an echocardiogram so the doctor can see how their heart is working. […] They may need other tests that provide more information about their heart. These include: Electrocardiogram, Chest X-rays, MRI (magnetic resonance imaging) of the heart, Cardiac catheterization, Exercise testing.
  • #61 Mitral Valve Disease
    https://www.rwjbh.org/treatment-care/heart-and-vascular-care/diseases-conditions/mitral-valve-disease/
    Mitral valve disease has many causes. Some forms of mitral valve disease can be present at birth (congenital) […] To diagnose mitral valve disease, your doctor may review your signs and symptoms, discuss your and your family’s medical history, and conduct a physical examination. Your doctor may listen to your heart with a stethoscope to determine if you have a heart murmur that may indicate a mitral valve condition. Your doctor may also order several tests to diagnose your condition and determine the cause and severity of your condition, including: […] Echocardiogram (ECHO) […] Computed tomography (CT scan) […] Magnetic resonance imaging (MRI) […] Cardiac catheterization […] X-Rays […] Electrocardiogram (EKG/ECG) […] Stress test.
  • #62 Mitral Valve Disease | Boston Children’s Hospital
    https://www.childrenshospital.org/programs/congenital-heart-valve-program/valve-conditions/mitral-valve
    Mitral valve disease disrupts the flow of oxygen-rich blood through those chambers and, in turn, affects the rest of the body. It can cause fatigue, shortness of breath, and potentially heart failure. Many of our patients are born with congenital mitral valve disease, which can manifest as a unicuspid (having only one valve flap instead of two) condition. […] The Congenital Heart Valve Program at Boston Children’s specializes in the care and treatment of mitral valve disease. […] We work closely with the Fetal Cardiology Program to detect and diagnose mitral valve disease and any CHD in the fetal stage. Thanks to advanced diagnostic imaging, we can pinpoint the disease and potentially intervene before birth with specialized in utero treatment.
  • #63 Mitral Valve Disease | Boston Children’s Hospital
    https://www.childrenshospital.org/conditions/mitral-valve-disease
    Mitral valve disease disrupts the flow of oxygen-rich blood through those chambers and, in turn, affects the rest of the body. […] Many of our patients are born with congenital mitral valve disease, which can manifest as a unicuspid (having only one valve flap instead of two) condition. […] Congenital mitral stenosis is a complex congenital heart defect (CHD) that affects the mitral valves function. It lessens blood flow into the left ventricle. […] We work closely with the Fetal Cardiology Program to detect and diagnose mitral valve disease and any CHD in the fetal stage. Thanks to advanced diagnostic imaging, we can pinpoint the disease and potentially intervene before birth with specialized in utero treatment.
  • #64 About Atrioventricular Septal Defect | Congenital Heart Defects (CHDs) | CDC
    https://www.cdc.gov/heart-defects/about/atrioventricular-septal-defect.html
    AVSD may be diagnosed during pregnancy or soon after the baby is born. […] During pregnancy, screening tests (prenatal tests) check for birth defects and other conditions. An ultrasound, a tool that creates pictures of the baby, may detect an AVSD. However, it usually depends on the size or type (partial or complete) of the AVSD. […] A healthcare provider may request additional tests to confirm the diagnosis of AVSD. These tests include: Echocardiogram (ultrasound of the heart), Electrocardiogram (EKG) (measures electrical activity of the heart), Chest X-ray, Other medical tests.
  • #65 Mitral Valve Disease | Boston Children’s Hospital
    https://www.childrenshospital.org/conditions/mitral-valve-disease
    Mitral valve disease disrupts the flow of oxygen-rich blood through those chambers and, in turn, affects the rest of the body. […] Many of our patients are born with congenital mitral valve disease, which can manifest as a unicuspid (having only one valve flap instead of two) condition. […] Congenital mitral stenosis is a complex congenital heart defect (CHD) that affects the mitral valves function. It lessens blood flow into the left ventricle. […] We work closely with the Fetal Cardiology Program to detect and diagnose mitral valve disease and any CHD in the fetal stage. Thanks to advanced diagnostic imaging, we can pinpoint the disease and potentially intervene before birth with specialized in utero treatment.
  • #66 Congenital mitral valve defects in pediatric population: a narrative review of surgical repair – Chen – Pediatric Medicine
    https://pm.amegroups.org/article/view/6593/html
    An accurate preoperative diagnostic assessment is essential for evaluating of anatomical and function of MV and planning individual tailored surgical strategies. Transthoracic two-dimensional echocardiography remains the standard diagnostic technique using in pediatric surgical planning. Recently, the three-dimensional echocardiography technique helps plan the surgery strategy by en face view of the anatomy of valves and chordal, providing better precise measurement of the MV annulus estimation of the entire mitral annulus, mitral area, and regurgitant. […] The CMVM encompasses complex lesions, including anomalies on valvar leaflets, tensor apparatus, and papillary muscles. Therefore, various surgical techniques are tailored for each anomaly, and combinations of several surgical techniques are often required to achieve the primary goal of achieving a suitable valve function, rather than a normal anatomy.
  • #67 Congenital mitral valve defects in pediatric population: a narrative review of surgical repair – Chen – Pediatric Medicine
    https://pm.amegroups.org/article/view/6593/html
    An accurate preoperative diagnostic assessment is essential for evaluating of anatomical and function of MV and planning individual tailored surgical strategies. Transthoracic two-dimensional echocardiography remains the standard diagnostic technique using in pediatric surgical planning. Recently, the three-dimensional echocardiography technique helps plan the surgery strategy by en face view of the anatomy of valves and chordal, providing better precise measurement of the MV annulus estimation of the entire mitral annulus, mitral area, and regurgitant. […] The CMVM encompasses complex lesions, including anomalies on valvar leaflets, tensor apparatus, and papillary muscles. Therefore, various surgical techniques are tailored for each anomaly, and combinations of several surgical techniques are often required to achieve the primary goal of achieving a suitable valve function, rather than a normal anatomy.
  • #68 Surgical repair of congenital mitral valve malformations
    http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S1405-99402010000200005
    Transesophageal intraoperatory echocardiography was very useful to evaluate the immediate results of surgical mitral valve repair, and identify early technical failure. […] Although we believe that intraoperative transesophageal echocardiography is an important method that allows the surgeon to decide which is the best surgical mitral repair technique to use and to evaluate the early results, our final decision depends on the type of patient we deal with. […] We can say that mitral valve repair in pediatric patients is probably the best technique option in the treatment of congenital malformations of the mitral valve, because of the satisfactory early and midterm outcomes, low global mortality and a high freedom from reoperation for mitral valve prosthetic replacement survival rate.
  • #69 Surgical repair of congenital mitral valve malformations | Archivos de Cardiología de México
    https://www.elsevier.es/en-revista-archivos-cardiologia-mexico-293-articulo-surgical-repair-congenital-mitral-valve-X1405994010534009
    Transesophageal intraoperatory echo-cardiography was very useful to evaluate the immediate results of surgical mitral valve repair, and identify early technical failure. […] Although we believe that intraoperative transesophageal echocardiography is an important method that allows the surgeon to decide which is the best surgical mitral repair technique to use and to evaluate the early results, our final decision depends on the type of patient we deal with. […] We can say that mitral valve repair in pediatric patients is probably the best technique option in the treatment of congenital malformations of the mitral valve, because of the satisfactory early and mid-term outcomes, low global mortality and a high freedom from reoperation for mitral valve prosthetic replacement survival rate. […] In addition, mitral valve repair allows preservation of the native valve without interfering with its growth, avoiding anticoagulation at an early age.
  • #70 Mitral Valve Disease and Diagnosis | Mount Sinai – New York
    https://www.mountsinai.org/care/heart/services/cardiac-surgery/mitral-valve/disease-diagnosis
    To diagnose heart valve disease, we do a physical exam and conduct imaging tests. At the exam, your cardiologist will check for fluid build-up and will use imaging tests such as echocardiograms, chest X-rays, transesophageal echocardiograms, and cardiac catheterizations. […] The latest literature has demonstrated the positive impact (better postoperative long-term survival) of early mitral valve repair, rather than waiting for symptoms such as ventricular dysfunction or dilatation, pulmonary hypertension, or atrial fibrillation—the standard guideline triggers for surgery in previous eras. However, the guidelines of the American College of Cardiology and the American Heart Association (ACC/AHA) for the management of patients with valvular heart disease recommend early mitral valve repair only if the procedure is performed in a mitral valve reference center. The Mitral Valve Repair Reference Center at The Mount Sinai Hospital is among the world’s best.
  • #71 Diagnosing Mitral Valve Disease | NYU Langone Health
    https://nyulangone.org/conditions/mitral-valve-disease/diagnosis
    At NYU Langones Heart Valve Center, our team of heart valve specialists works together to diagnose mitral valve disease. […] After taking a medical history and conducting a physical exam, your NYU Langone specialist may recommend that certain tests be performed before making a diagnosis of mitral valve disease. […] The echocardiogram remains the gold standard imaging technique for diagnosing and quantifying heart valve dysfunction. […] Cardiac catheterization can help your doctor measure the blood flow and pressure on both sides of the mitral valve. This helps the doctor detect problems with the valves ability to regulate blood flow through the heart.
  • #72 Congenital mitral valve anomalies | Health Library | Memorial Health System
    https://www.mhsystem.org/health-library/con-20359715/
    Congenital mitral valve anomalies are types of heart valve disease that are present at birth. […] To diagnose congenital mitral valve anomalies, a healthcare professional does a physical exam and listens to the heart and lungs. A sound called a heart murmur may be heard. […] Imaging tests are done to diagnose congenital mitral valve anomalies. […] An echocardiogram is the main test used to diagnose the condition. The test also is called a heart ultrasound. It uses sound waves to make pictures of the beating heart. An echocardiogram can show the structure of the heart and heart valves and blood flow through the heart. […] There are different types of echocardiograms. The type done depends on the information the healthcare professional needs. […] Some people with congenital mitral anomalies may need surgery to repair or replace the mitral valve. […] People born with congenital mitral valve anomalies need lifelong health checkups. Its best to be cared for by a healthcare professional trained in congenital heart conditions.
  • #73 Understanding the role of echocardiography in the assessment of mitral valve disease
    https://www.escardio.org/Journals/E-Journal-of-Cardiology-Practice/Volume-16/Understanding-the-role-of-echocardiography-in-the-assessment-of-mitral-valve-disease
    In chronic primary MR, echocardiography helps in detailed assessment of the MV leaflets to diagnose prolapsed scallop(s), flail leaflet, perforation, vegetation, etc. […] In chronic secondary MR, echocardiography helps in volumetric measurement of LV size and ejection fraction. […] Echocardiography (2D and 3D) via transthoracic and transoesophageal approaches plays an important role in the assessment of mitral valve disease (MVD). […] Echocardiography is considered as a class I diagnostic test indication in the latest AHA/ACC valvular heart disease guidelines because it helps in verifying the diagnosis of MS and assessing its severity through both qualitative and quantitative assessment. […] The criteria used to define severe MR using previous parameters are displayed in Table 1. […] Echocardiography provides sufficiently detailed images of the MV and is the most important diagnostic tool in establishing the diagnosis, depicting the severity of the lesion, and for appropriate clinical decision making.
  • #74 Echocardiographic examination of mitral valve abnormalities in the paediatric population: current practices | Cardiology in the Young | Cambridge Core
    https://www.cambridge.org/core/journals/cardiology-in-the-young/article/echocardiographic-examination-of-mitral-valve-abnormalities-in-the-paediatric-population-current-practices/219098841D70432B332BC0051C97D6C6
    Quantitative parameters such as valve area have also been poorly validated in children. […] Adult recommendations are frequently applied without validation for the paediatric age. […] In conclusion, significant advances in the anatomical evaluation of mitral valve diseases have been made, thanks to three-dimensional echocardiography; however, limitations remain in the quantitative/semi-quantitative estimation of disease severity, both with respect to valvular regurgitation and stenosis. […] Because adult echocardiographic recommendations should not be simply translated to the paediatric age, more specific paediatric guidelines and standards for the assessment of mitral valve diseases are needed.
  • #75 Isolated congenital cleft mitral valve leaflet: a rare cause of refractory cardiogenic shock complicating acute myocardial infarction | Journal of Congenital Cardiology | Full Text
    https://jcongenitalcardiology.biomedcentral.com/articles/10.1186/s40949-021-00062-2
    Surgical repair of a mitral cleft is usually the treatment of choice. Surgical repair is most often completed by suturing opposed edges of the cleft coupled with annuloplasty. […] Percutaneous intervention with Mitraclip has also been used to successfully treat CMVL when the valvular anatomy appears favorable. […] Isolated CMVL is a rare disorder, especially in the posterior leaflet. The consequences of CMVL can include significant mitral regurgitation, left atrial enlargement, and progressive LV dilation. If diagnosed early, surgical treatment results in good outcomes and preservation of LV systolic function. Percutaneous correction of a CMVL with MitraClip has been described and may offer an alternative approach for high risk surgical patients.
  • #76 Two Holes in One: A Rare Case of Congenital Mitral Valve Anomaly | Congenital Mitral Valve Anomaly
    https://www.japscjournal.com/articles/two-holes-one-rare-case-congenital-mitral-valve-anomaly?language_content_entity=en
    Performing 3D echocardiography is useful in identifying the morphology type and providing further anatomical and functional information, such as orifice size, number of leaflets and spatial relationship, and identifying associated congenital heart anomalies that had not been seen in transthoracic 2D echocardiography. […] Management would depend on the severity of the valvular stenosis and/or regurgitation, associated congenital defects and clinical presentation. Asymptomatic DOMV usually requires no active intervention; in cases of severe mitral regurgitation, stenosis or associated cardiac anomalies, surgical repair is needed. […] In our case, as symptoms and concomitant abnormalities were absent, regular long-term follow-up was advised for the early detection of complications and no active medical or surgical intervention was warranted.