Wrodzone anomalie zastawki mitralnej
Etiologia i przyczyny

Wrodzone anomalie zastawki mitralnej stanowią rzadką grupę wad serca, dotyczących struktury zastawki dwudzielnej, z częstością około 0,4% wśród wrodzonych wad serca i 5/100 000 w populacji ogólnej. Etiologia tych wad jest wieloczynnikowa, obejmująca mutacje genetyczne wpływające na rozwój zastawek, zaburzenia fuzji poduszeczek wsierdziowych oraz nieprawidłowości w rozwoju kolagenu i elastyny. Anomalie mogą dotyczyć płatków zastawki (np. izolowane rozszczepienie płatka, podwójne ujście zastawki mitralnej, fenestracja), struktur podtrzymujących (np. zastawka spadochronowa, asymetryczna zastawka spadochronowa, nieprawidłowości strun ścięgnistych i mięśni brodawkowatych) oraz rzadziej pierścienia nadmitralnego czy anomalii Ebsteina. Wady te często współistnieją z innymi wrodzonymi defektami serca, takimi jak ubytki przegrody, zespół Shone’a, czy niedorozwój lewej części serca. Ponadto, wady zastawki mitralnej mogą być powiązane z zespołami chorób tkanki łącznej, np. zespołem Marfana czy Ehlersa-Danlosa.

Etiologia wrodzonych anomalii zastawki mitralnej

Wrodzone anomalie zastawki mitralnej (ang. Congenital mitral valve anomalies) to grupa rzadkich wad serca obecnych od urodzenia, które dotyczą zastawki dwudzielnej (mitralnej) – struktury oddzielającej lewy przedsionek od lewej komory serca. Dokładna przyczyna tych wad nie została w pełni poznana, jednak powstają one w wyniku nieprawidłowego rozwoju serca płodu podczas ciąży12. Wrodzone anomalie zastawki mitralnej występują stosunkowo rzadko – szacuje się, że dotyczą około 0,4% pacjentów z wrodzonymi wadami serca lub 5/100 000 w populacji ogólnej34.

Czynniki genetyczne i rozwojowe

Chociaż dokładna przyczyna wrodzonych anomalii zastawki mitralnej pozostaje nieznana, istnieje kilka czynników, które mogą odgrywać rolę w ich rozwoju:

  • Zmiany genetyczne – mutacje genów wpływających na rozwój zastawek serca12
  • Zaburzenia procesu fuzji poduszeczek wsierdziowych (endocardial cushions) – nieprawidłowości w rozwoju zastawki mitralnej i jej struktur podporowych5
  • Mutacje genetyczne wpływające na rozwój kolagenu i elastyny, prowadzące do zmian strukturalnych zastawki5
  • Utrzymywanie się niepełnych mostków tkankowych zarodkowych, które uniemożliwiają prawidłowe tworzenie zastawki mitralnej5

Według badań, wrodzone anomalie zastawki mitralnej mogą być wynikiem zaburzeń rozwojowych występujących między 5. a 19. tygodniem ciąży, kiedy następuje normalny proces delaminacji grzbietu beleczkowego6.

Czynniki środowiskowe i ekspozycje w okresie prenatalnym

Poza czynnikami genetycznymi, na rozwój wrodzonych anomalii zastawki mitralnej mogą wpływać również:

  • Przyjmowanie niektórych leków w okresie ciąży12
  • Istniejące wcześniej schorzenia u matki12
  • Czynniki środowiskowe lub związane ze stylem życia, takie jak palenie tytoniu12
  • Infekcje w okresie ciąży7
  • Toksyny i zatrucia podczas ciąży7
  • Nieodpowiednie odżywianie matki7

Często to kombinacja powyższych czynników prowadzi do powstania wady7.

Typy wrodzonych anomalii zastawki mitralnej

Wrodzone wady zastawki mitralnej często mają złożony charakter i dotyczą wielu segmentów aparatu zastawkowego38. Nieprawidłowości mogą wpływać na płatki zastawki, struny ścięgniste, mięśnie brodawkowate lub pierścień zastawki. Najczęściej spotykane typy anomalii to:

Niewłaściwe uformowanie płatków zastawki

Wśród nieprawidłowości płatków zastawki możemy wyróżnić:

  • Izolowane rozszczepienie płatka mitralnego (isolated cleft mitral valve) – najczęstsza przyczyna wrodzonej niedomykalności mitralnej, polegająca na podziale jednego z płatków (zwykle przedniego) zastawki mitralnej910
  • Zastawka mitralna z podwójnym ujściem (double orifice mitral valve, DOMV) – rzadka wada występująca u 1% autopsyjnych przypadków wrodzonych wad serca, definiowana jako pojedynczy włóknisty pierścień z dwoma otworami otwierającymi się do lewej komory911
  • Fenestracja (perforacja) płatka mitralnego – rzadka przyczyna wrodzonej niedomykalności mitralnej charakteryzująca się perforacją w płatku przednim zastawki mitralnej1213
  • Dysplazja zastawki mitralnej – wrodzona wada polegająca na nieprawidłowym rozwoju płatków zastawki mitralnej lub innych komponentów kompleksu zastawki mitralnej14

Nieprawidłowości aparatu podzastawkowego

Anomalie struktur podtrzymujących zastawkę mitralną obejmują:

  • Zastawka mitralna spadochronowa (parachute mitral valve) – wada, w której wszystkie struny ścięgniste wprowadzają się do jednego mięśnia brodawkowatego15. Często współwystępuje z pierścieniem nadmitralnym i jest częściej odpowiedzialna za stenozę mitralną6
  • Asymetryczna zastawka mitralna spadochronowa (parachute-like asymmetric mitral valve) – charakteryzująca się krótkimi i pogrubiałymi strunami ścięgnistymi, które ograniczają ruch płatków6
  • Nieprawidłowości strun ścięgnistych – brakujące struny, krótkie i grube struny lub struny przyczepiające się do mięśnia sercowego w pobliżu zastawki mitralnej16
  • Anomalie mięśni brodawkowatych – nieprawidłowa lokalizacja, wielkość lub kształt mięśni brodawkowatych17

Inne anomalie zastawki mitralnej

Do rzadszych typów wrodzonych anomalii zastawki mitralnej należą:

  • Pierścień nadmitralny (supravalvar mitral ring) – struktura zwężająca światło powyżej zastawki mitralnej, często będąca integralną częścią płatków zastawki mitralnej15
  • Wypadanie płatka zastawki mitralnej (mitral valve prolapse, MVP) – chociaż często nabyte, może mieć również podłoże wrodzone1819
  • Anomalia Ebsteina zastawki mitralnej (Ebstein malformation of mitral valve) – rzadka wada, w której następuje nieprawidłowe mocowanie płatków zastawki20
  • Jednopłatkowa zastawka mitralna (unicuspid mitral valve) – zastawka posiadająca tylko jeden płatek zamiast dwóch21

Powiązanie z innymi wadami wrodzonymi

Wrodzone anomalie zastawki mitralnej rzadko występują jako izolowane wady. W większości przypadków współistnieją z innymi wrodzonymi wadami serca1622. Najczęstsze towarzyszące wady wrodzone to:

Wrodzone zwężenie zastawki mitralnej rzadko występuje jako izolowana wada i często współwystępuje z innymi defektami lewej części serca22. Z kolei podwójne ujście zastawki mitralnej (DOMV) w większości przypadków jest związane z innymi wrodzonymi wadami serca, a jako izolowana anomalia występuje niezwykle rzadko11.

Związek z chorobami tkanki łącznej

Wrodzone anomalie zastawki mitralnej, szczególnie wypadanie płatka mitralnego (MVP), mogą być związane z wrodzonymi zaburzeniami tkanki łącznej19. Do najważniejszych z nich należą:

  • Zespół Marfana – genetyczne zaburzenie tkanki łącznej, które może prowadzić do wypadania zastawki mitralnej i niedomykalności zastawki aortalnej262728
  • Zespół Ehlersa-Danlosa – grupa zaburzeń dziedzicznych wpływających na tkankę łączną2919
  • Wrodzona łamliwość kości (osteogenesis imperfecta) – zaburzenie w formowaniu kolagenu typu I, które może prowadzić do przewlekłej niedomykalności aortalnej i mitralnej3019
  • Pseudoxanthoma elasticum – rzadkie zaburzenie tkanki łącznej19
  • Zespół Loeysa-Dietza – zaburzenie genetyczne tkanki łącznej1927

W przypadku wypadania płatka zastawki mitralnej (MVP), wyróżnia się MVP pierwotne (sporadyczne lub rodzinne) oraz wtórne – związane z zespołami chorobowymi, szczególnie z chorobami tkanki łącznej19.

Embriologia i mechanizmy rozwoju wrodzonych anomalii zastawki mitralnej

Embriologia zastawki mitralnej jest złożona i nie w pełni poznana23. Wrodzone anomalie zastawki mitralnej powstają w wyniku zaburzeń rozwojowych serca płodu. Mechanizmy patogenetyczne obejmują:

Zaburzenia rozwoju poduszeczek wsierdziowych

Poduszeczki wsierdziowe (endocardial cushions) odgrywają kluczową rolę w rozwoju zastawek przedsionkowo-komorowych. Nieprawidłowości w ich rozwoju mogą prowadzić do różnych wad zastawki mitralnej5:

  • Nieprawidłowa fuzja poduszeczek wsierdziowych11
  • Niepełna fuzja dwóch przedsionkowo-komorowych poduszeczek wsierdziowych11
  • Nieprawidłowa fuzja płatków mitralnych w okresie zarodkowym11

W przypadku rozszczepienia płatka mitralnego (cleft mitral valve), dochodzi do nieprawidłowego rozwoju płatków w wyniku zaburzeń fuzji przyśrodkowej części górnych i dolnych płatków pomostowych w miejscu połączenia serca17.

Zaburzenia delaminacji i formowania struktur podzastawkowych

Zaburzenia procesu delaminacji grzbietu beleczkowego między 5. a 19. tygodniem ciąży mogą prowadzić do anomalii zastawki mitralnej spadochronowej6. Nieprawidłowości w rozwoju aparatu podzastawkowego mogą obejmować:

  • Nieprawidłowy rozwój mięśni brodawkowatych i związanych z nimi struktur strunowych, co jest istotną nieprawidłowością w zwężeniu zastawki mitralnej31
  • Zaburzenia w formowaniu strun ścięgnistych, prowadzące do ich skrócenia, pogrubienia lub nieprawidłowego przyczepu32
  • Nieprawidłowy rozwój mięśni brodawkowatych, które mogą być nieprawidłowo zlokalizowane, mieć niewłaściwy rozmiar lub kształt12

W przypadku dysplazji zastawki mitralnej, nieprawidłowości mogą dotyczyć dowolnego komponentu kompleksu zastawki mitralnej (płatki zastawki, struny ścięgniste, mięśnie brodawkowate), przy czym często więcej niż jeden składnik jest wadliwy14.

Konsekwencje hemodynamiczne i kliniczne

Wrodzone anomalie zastawki mitralnej mogą prowadzić do dwóch głównych zaburzeń hemodynamicznych4:

  • Zwężenie zastawki mitralnej (stenoza mitralna) – utrudnienie napływu krwi z lewego przedsionka do lewej komory22
  • Niedomykalność zastawki mitralnej (regurgitacja mitralna) – wsteczny przepływ krwi z lewej komory do lewego przedsionka podczas skurczu22

Konsekwencje hemodynamiczne wrodzonych anomalii zastawki mitralnej zależą od typu i stopnia dysfunkcji zastawki oraz obecności towarzyszących wad serca20. Wrodzone zwężenie zastawki mitralnej zazwyczaj ujawnia się w pierwszych dwóch latach życia, natomiast wrodzona niedomykalność mitralna objawia się nadmiarem płynu w płucach, powodującym trudności w oddychaniu4.

Obecność szczelin (fenestracji) w płatkach mitralnych zaburza mechanizm zamykania zastawki, prowadząc do różnego stopnia niedomykalności mitralnej33. W ciężkich przypadkach fenestracja może predysponować do progresywnej niewydolności serca i zwiększonego ryzyka infekcyjnego zapalenia wsierdzia z powodu turbulencji krwi spowodowanej niedomykalnością33.

Długotrwała niedomykalność mitralna prowadzi do powiększenia lewej komory i lewego przedsionka34. Gdy niedomykalność jest ciężka, przepływ krwi z serca zmniejsza się, a płyn gromadzi się w płucach, powodując objawy niewydolności serca34.

Konsekwencje rozszczepienia płatka mitralnej (CMVL) mogą obejmować znaczącą niedomykalność mitralną, powiększenie lewego przedsionka i postępujące rozszerzenie lewej komory35. Jeśli zostanie wcześnie zdiagnozowane, leczenie chirurgiczne daje dobre wyniki i zachowanie funkcji skurczowej lewej komory35.

Wnioski

Etiologia wrodzonych anomalii zastawki mitralnej jest złożona i wieloczynnikowa. Chociaż dokładne przyczyny tych wad nie są w pełni poznane, badania wskazują na rolę czynników genetycznych, zaburzeń rozwojowych, czynników środowiskowych oraz ekspozycji w okresie prenatalnym12.

Wrodzone anomalie zastawki mitralnej obejmują szeroki zakres nieprawidłowości anatomicznych – od izolowanych rozszczepień płatków po złożone wady aparatu podzastawkowego31. Często współwystępują z innymi wrodzonymi wadami serca lub chorobami tkanki łącznej, co może wpływać na ich manifestację kliniczną i rokowanie1620.

Mechanizmy patogenetyczne wrodzonych anomalii zastawki mitralnej obejmują zaburzenia rozwoju poduszeczek wsierdziowych, nieprawidłowości w procesie delaminacji i formowania struktur podzastawkowych oraz mutacje genów wpływających na rozwój kolagenu i elastyny56.

Konsekwencje hemodynamiczne tych anomalii mogą prowadzić do zwężenia zastawki mitralnej, niedomykalności lub kombinacji obu tych stanów, co w zależności od nasilenia może powodować różnorodne objawy kliniczne – od bezobjawowego przebiegu po ciężką niewydolność serca434.

Wczesne rozpoznanie i odpowiednie leczenie wrodzonych anomalii zastawki mitralnej ma kluczowe znaczenie dla poprawy rokowania i zapobiegania powikłaniom długoterminowym35.

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  1. 09.04.2026
  2. www.leksykon.com.pl

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. That means they are congenital heart defects. The conditions affect the valve between the heart’s upper and lower left chambers. That valve is called the mitral valve. […] The exact cause of congenital mitral valve anomalies is not known. The conditions happen when the unborn baby’s heart does not grow the way it should during pregnancy. An unborn baby also is called a fetus. […] Gene changes, certain medicines or health conditions, and environmental or lifestyle factors, such as smoking, may play a role.
  • #2 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. That means they are congenital heart defects. The conditions affect the valve between the hearts upper and lower left chambers. That valve is called the mitral valve. […] The exact cause of congenital mitral valve anomalies is not known. The conditions happen when the unborn babys heart does not grow the way it should during pregnancy. An unborn baby also is called a fetus. […] Gene changes, certain medicines or health conditions, and environmental or lifestyle factors, such as smoking, may play a role.
  • #3 Congenital mitral valve lesions : Correlation between morphology and imaging
    https://pmc.ncbi.nlm.nih.gov/articles/PMC3327011/
    Congenital malformations of the mitral valve are often complex and affect multiple segments of the valve apparatus. […] Clinically significant congenital mitral valve lesions are rare and estimated to affect 0.4% of those with congenital heart disease or 5/100 000 of the general population. […] The original classification and descriptions were based on the severe forms that attracted the attention of pathologists and surgeons. […] The majority of congenital mitral valve defects are not limited to a single valve segment and it is often difficult to delineate the predominant effect. […] The classical patterns of malformations are relatively rare and most can be characterized as the incomplete form or the forme fruste.
  • #4 Valvular heart disease: congenital anomalies of the mitral
    https://hospital.vallhebron.com/en/healthcare/diseases/valvular-heart-disease-congenital-anomalies-mitral-valve
    Congenital mitral valve anomalies include a wide range of irregularities in the valves and subvalvular systems. This can cause problems from obstruction to mitral valve insufficiency. Two specific problems can occur: stenosis, which affects children; and congenital mitral insufficiency. […] Congenital mitral stenosis tends to appear in the first two years of life, and congenital mitral insufficiency occurs where there is an excess of liquid in the lung which causes breathing difficulties. […] Congenital mitral valve anomalies are rare and make up 0.5% of congenital heart defects. […] In the case of congenital mitral insufficiency, surgical repair or replacement of the valve is necessary in patients with symptoms who have severe mitral insufficiency and do not respond to treatment.
  • #5 Congenital Mitral Leaflet Fissuration: Causes, Diagnosis, and Treatment
    https://angolodeldottorino.it/en/Medicine/Cardiology/Congenital_Heart_Diseases/Congenital_Mitral_Leaflet_Fissuration.php
    Congenital mitral leaflet fissuration is a rare anomaly of the mitral valve characterized by discontinuities in the valve leaflets, ranging from small interruptions to more extensive fissures. This condition can compromise valve coaptation, leading to varying degrees of mitral regurgitation. While it can occur as an isolated anomaly, it is often associated with other congenital heart defects such as atrioventricular septal defect (AVSD), parachute mitral valve, or mitral valve prolapse. […] Anomaly in the remodeling process of the mitral leaflets can lead to the persistence of congenital fissures, disrupting normal valve coaptation. The main hypothesized causes include: Defects in the fusion of endocardial cushions: May lead to abnormalities of the mitral valve and its supporting structures. Genetic mutations: Affect the development of collagen and elastin, resulting in structural alterations of the valve. Persistence of incomplete embryonic tissue bridges: Prevent the formation of a fully coapting mitral valve.
  • #6 Mitral valve incompetence: epidemiology and causes
    https://www.escardio.org/Journals/E-Journal-of-Cardiology-Practice/Volume-16/Mitral-valve-incompetence-epidemiology-and-causes
    Although parachute mitral valve is more responsible for mitral stenosis, mitral regurgitation may occur, and it must be equally carefully followed because of its progressive evolution. […] In both parachute mitral valve and parachute-like asymmetric mitral valve, the chordae are short and thickened, thus restricting the motion of the leaflets. […] Oosthoek et al assumed that PMV results from an embryological disturbance during the normal delamination of the trabecular ridge between the fifth and nineteenth week of gestation.
  • #7 Congenital and Inherited Disorders of the Cardiovascular System in Dogs – Dog Owners – Merck Veterinary Manual
    https://www.merckvetmanual.com/dog-owners/heart-and-blood-vessel-disorders-of-dogs/congenital-and-inherited-disorders-of-the-cardiovascular-system-in-dogs
    Congenital abnormalities of the cardiovascular system are defects that are present at birth. They can occur as a result of genetic defects, environmental conditions, infections, poisoning, medication taken by the mother, or poor maternal nutrition. In some cases, it is a combination of these factors that causes the defect. […] For several defects, an inherited basis is suspected based on breed and breeding studies. […] However, some studies have suggested that fewer than 1% of dogs are affected by congenital heart disease. […] Among the few dogs that do have congenital heart disease, common defects (from most to least common) include patent ductus arteriosus, pulmonic stenosis, aortic stenosis, persistent right aortic arch, and ventricular septal defect. […] Less common congenital cardiac defects (occurring in less than 5% of cases) include tetralogy of Fallot, atrial septal defect, persistent left cranial vena cava, mitral valve dysplasia, tricuspid dysplasia, and cor triatriatum dexter.
  • #8
    https://journals.lww.com/aopc/fulltext/2012/05010/congenital_mitral_valve_lesions___correlation.2.aspx
    Congenital malformations of the mitral valve are often complex and affect multiple segments of the valve apparatus. […] The majority of mitral valve malformations are not simply classified, and descriptive terms with historical significance (parachute, mitral, or arcade) often lack the specificity that cardiac surgeons demand as part of preoperative echocardiographic morphological assessment. […] Clinically significant congenital mitral valve lesions are rare and estimated to affect 0.4% of those with congenital heart disease or 5/100 000 of the general population. […] Echocardiography reveals that the prevalence of the minor mitral valve defects may be much higher than previously reported, up to 1% (11/1142) in healthy school-aged children. […] The original classification and descriptions were based on the severe forms that attracted the attention of pathologists and surgeons.
  • #9 Mitral valve incompetence: epidemiology and causes
    https://www.escardio.org/Journals/E-Journal-of-Cardiology-Practice/Volume-16/Mitral-valve-incompetence-epidemiology-and-causes
    Mitral incompetence may occur as congenital malformations of the mitral valve. They are often complex and affect multiple segments of the valve apparatus. These may occur in isolation or in association with other congenital heart defects. In an echocardiographic study, congenital malformations of the mitral valve were detected in almost 0.5% of the 13,400 subjects. […] Isolated cleft of the anterior mitral valve leaflet is a rare but well-known finding, the origin of which is under debate. […] The definition of a mitral cleft is a division of one of the leaflets (usually the anterior leaflet) of the mitral valve. […] Double orifice mitral valve (DOMV) is a rare condition occurring in 1% of autopsied cases of congenital heart disease. […] DOMV is defined as a single fibrous annulus with two orifices opening into the left ventricle.
  • #10 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
    Isolated cleft mitral valve leaflet (CMVL) is the most common cause of congenital mitral regurgitation (MR). CMVL results from congenital mitral hypoplasia and is most often associated with other congenital heart defects, usually endocardial cushion defects (atrio-ventricular septal defects). […] Cases in which CMVL is found without an associated defect are called isolated mitral valve clefts, which is another rare congenital anomaly that was first described in 1954. […] Although an isolated CMVL is an uncommon congenital cardiac diagnosis, it is a well-recognized cause of congenital MR. Isolated CMVL should be distinguished from cleft mitral valves that are associated with atrioventricular septal defects or other forms of congenital heart disease. […] It is rare to find an isolated CMVL in either the anterior or posterior leaflet, with one study using transthoracic echocardiography reporting a prevalence of isolated posterior CMVL with moderate or severe MR of 0.07%.
  • #11 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. […] Its embryonic development, as with most cardiac lesions, is incompletely understood and remains controversial. Theories include abnormal embryonic fusion of the mitral leaflets, abnormal fusion of the endocardial cushions or incomplete fusion of the two atrioventricular endocardial cushions. […] DOMV may occur as an isolated anomaly but, in most cases, it is associated with other congenital malformations. Isolated DOMV is extremely rare and its exact incidence, prevalence and prognostic relevance have not been established. […] Because of the associated anomalies, DOMV is usually detected in early childhood, but is hardly ever diagnosed in adults, so the incidence and prognostic relevance of an isolated DOMV detected in adulthood is unknown.
  • #12 SciELO Brazil – Mitral Valve Fenestration as a Rare Cause of Congenital Mitral Insufficiency Successfully Repaired Mitral Valve Fenestration as a Rare Cause of Congenital Mitral Insufficiency Successfully Repaired
    https://www.scielo.br/j/rbccv/a/5wW5R7rfxmQBVsZLZsB8xbH/
    A rare case of congenital mitral insufficiency characterized by a fenestration in the anterior leaflet of mitral valve is reported. […] The etiology of congenital mitral insufficiency accompanying coarctation of the aorta is not clear. An embryologic association between the two lesions is difficult to explain, but it is possible for the same insult to cause unrelated congenital defects. […] Mitral incompetence is a rare congenital malformation. It was first described by Semans and Taussig (1938). Primary congenital MV abnormalities are identified according to the four anatomic components of the valve. The most common lesion in congenital MV disturbance is an abnormality of the papillary muscles, followed by the involvement of leaflets, commissures, and chordae tendineae. This condition is often associated with anomalies involving the left side of the heart (especially mitral stenosis), or as part of a syndrome.
  • #13 SciELO Brazil – Mitral Valve Fenestration as a Rare Cause of Congenital Mitral Insufficiency Successfully Repaired Mitral Valve Fenestration as a Rare Cause of Congenital Mitral Insufficiency Successfully Repaired
    https://www.scielo.br/j/rbccv/a/5wW5R7rfxmQBVsZLZsB8xbH/
    In reviewing the literature, we have found very few descriptions of patients treated surgically with congenital mitral incompetence and coarctation of the aorta. It is even more difficult to find an MR caused by a deficient tissue growth like a fenestration in the anterior leaflet, like this case. An understanding of the pathologic anatomy of congenital MR is absolutely relevant to its optimal surgical management. If one recognizes that regurgitation is due to a leaflet perforation, it may well be possible to patch the perforation, thereby avoiding MV replacement.
  • #14 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. […] Congenital malformation of the mitral valve complex (mitral valve dysplasia) is a common congenital cardiac defect in cats. […] Canine breeds predisposed are Bull Terriers, German Shepherds, and Great Danes. […] Mitral valve dysplasia results in mitral insufficiency and systolic regurgitation of blood into the left atrium. […] Any component of the mitral valve complex (valve leaflets, chordae tendineae, papillary muscles) may be malformed, and often more than one component is defective. […] Malformation of the mitral valve complex results in significant valvular insufficiency. […] In some cases, malformation of the mitral valve complex causes a degree of valvular stenosis as well as insufficiency. […] Prognosis for animals with clinical signs and severe mitral valve dysplasia is poor.
  • #15
    https://journals.lww.com/aopc/fulltext/2012/05010/congenital_mitral_valve_lesions___correlation.2.aspx
    The literature search identified seven classification systems of congenital mitral valve lesions that are detailed in Table 1. […] They concluded that it was misleading to classify patients based on one anatomic segment of the mitral valve. […] Commonly, the leaflet margins were thickened, tendinous chords appeared shortened, interchordal spaces were obliterated, and the two papillary muscles were underdeveloped and closely spaced. […] Parachute mitral valve refers to an anomaly of the mitral valve apparatus where all tendinous cords insert into one papillary muscle as noted by Edwards in 1963. […] It is frequently associated with a supramitral ring that is often an integral part of the mitral valve leaflets. […] Parachute mitral valves are frequently associated with subaortic obstruction and coarctation of the aorta.
  • #16 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). […] Problems with the cords that support the valve such as missing cords, short and thick cords, or cords attaching to the heart muscle near the mitral valve […] People with mitral valve anomalies also often have other congenital heart defects.
  • #17 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/
    The most common etiology of the so called MV cleft is abnormal development of the leaflets in an AVC defect. In normal development, there is fusion of the medial portion of the superior and inferior bridging leaflets at the crux of the heart. Failure of fusion, results in a mitral cleft. The cleft is in the center of the valve where the leaflets failed to fuse or the zone of apposition between the LV components of the bridging leaflets. This is in contrast to other clefts which really are exaggerated scallops that extend deep into the annulus. […] 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.
  • #18 Valvulopathies and Genetics: Where are We?
    https://www.imrpress.com/journal/RCM/25/2/10.31083/j.rcm2502040/htm
    Valvular heart diseases are mostly acquired during adult life, however, familial clustering and heritability of common valve disorders such as mitral valve prolapse, or bicuspid aortic valve highlight the significant role of genetic factors. […] The primary cause of MR is mitral valve prolapse (MVP). […] MVP can be part of a well-defined syndrome (secondary cause) or can be identified in a non-syndromic context (primary cause). In non-syndromic cases, mitral prolapse may appear sporadically (non-familiar) or in familiar circumstances (hereditary). […] Non-syndromic sporadic forms are the most common conditions of MVP. […] In a considerable number of familial cases with a Mendelian inheritance pattern, researchers have uncovered non-syndromic cases of MVP where certain rare genetic variations exert a profound effect on the development of the condition.
  • #19 Mitral Valve Prolapse | 5-Minute Clinical Consult
    https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/1688630/all/Mitral_Valve_Prolapse
    MVP can be classified in different ways, including by etiology (primary or secondary; see Etiology and Pathophysiology) or by morphology (classic MVP and nonclassic MVP; see Test Interpretation). […] The etiology of MVP is multifactorial and includes the following (1): Primary MVP: sporadic or familial […] Secondary MVP: syndromic MVP: myxomatous degeneration associated with connective tissue disorders, for example Marfan syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, pseudoxanthoma elasticum, Loeys-Dietz syndrome […] Associated with congenital heart disease: atrial septal defect, Ebstein anomaly. […] Medical conditions implicated in the development of MVP include both heritable and sporadic congenital abnormalities as well as other disease processes. (See Etiology and Pathophysiology.) […] Connective tissue disorders, which often have a genetic basis, are associated with secondary MVP (see Etiology and Pathophysiology).
  • #20 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. […] Congenital malformations of the mitral valve. […] Congenital supravalvar mitral ring: an underestimated anomaly. […] Cleft mitral valve without ostium primum defect: anatomic data and surgical considerations based on 41 cases.
  • #21 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. […] 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 valve’s function. […] The disease and its presentations can also be associated with: Atrioventricular (AV) canal defects, A prior AV canal repair, Connective tissue disorder, Hypoplastic left heart syndrome (HLHS), Endocarditis, Shone’s complex.
  • #22 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). […] Some children are born with mitral valve problems. In many cases, the cause is not clear. […] Congenital mitral valve stenosis is usually linked with conditions that block blood flow on the left side of the heart. Rarely, mitral valve stenosis can happen on its own. […] Some children with congenital (present at birth) mitral valve problems are born with other conditions too. […] One cause of mitral valve problems is rheumatic fever, which happens after a strep infection.
  • #23 Congenital Anomalies of the Mitral Valve | Thoracic Key
    https://thoracickey.com/congenital-anomalies-of-the-mitral-valve/
    This chapter treats only the congenital anomalies of the mitral valve to the exclusion of the mitral valve in atrioventricular discordance, the mitral valve in univentricular hearts, and the mitral valve of the hypoplastic left heart syndrome. […] We have also included the mitral valve anomalies associated with congenital connective tissue disorders, in which the embryology of the mitral valve itself is normal. […] The embryology of the mitral valve is complex. […] The parachute mitral valve can be found in isolation. It is, however, almost always associated with another cardiac anomaly, such as atrial septal defect (ASD), ventricular septal defect (VSD), or coarctation, and it is often integrated in Shone syndrome. […] Three major anatomic types of lesions are almost always associated with a lack of valvular tissue to various degrees and are worth characterizing: parachute mitral valve, papillary-muscle-to-commissure fusion, and hammock or arcade valve.
  • #24 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/
    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.1,2 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.1, 2 Shones complex is a rare malformation comprised of four left-sided anomalies: a supravalvar mitral membrane (also called a supramitral ring), a parachute MV, subaortic stenosis, and coarctation of the aorta. A double orifice MV, named for the anatomical abnormality it produces, is also an extremely rare congenital anomaly that can lead to either MS or mitral regurgitation (MR). […] 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). Secondary or functional MR usually occurs in the setting of a cardiomyopathy or in combination with ventricular dysfunction. In this setting, the valve itself is usually normal but the coaptation area is decreased as the annulus dilates as a result of a primary myocardial abnormality.
  • #25 Heart valve disease module 1: epidemiology – The British Journal of Cardiology
    https://bjcardio.co.uk/2016/03/heart-valve-disease-module-1-epidemiology-2/5/
    Rheumatic disease is the overwhelming aetiology world-wide and causes isolated mitral stenosis in 40% of cases. […] Congenital mitral disease is uncommon. Patterns described in a series of 49 autopsy cases of congenital mitral stenosis were: dysplastic; parachute (single papillary muscle); hypoplastic associated with hypoplastic left heart; supramitral ring.
  • #26 Heart Valve Disease: Symptoms & Causes | NewYork-Presbyterian
    https://www.nyp.org/heart/heart-valves/symptoms
    Heart valve disease may be caused by congenital conditions (being born with it), infection, degenerative conditions progressing with age, and conditions related to other types of heart disease. Heart valve disease causes include: […] Congenital valve heart disease can prevent the heart valves from developing correctly or prevent valve flaps (leaflets) from properly attaching to the heart. […] Marfan syndrome is a genetic disorder that affects the body’s connective tissue. People with Marfan syndrome may develop mitral valve prolapse and aortic valve regurgitation.
  • #27 Valvulopathies and Genetics: Where are We?
    https://www.imrpress.com/journal/RCM/25/2/10.31083/j.rcm2502040/htm
    MVP can also occur as a secondary condition associated with syndromic disorders, which are often inherited connective tissue diseases. […] Syndromes with a high prevalence of MVP are Marfan syndrome (MFS), Mitral Aorta Skeleton and Skin Phenotype and Loeys-Dietz syndrome. […] The MVP condition is generally considered benign in the absence of MR and left-ventricular abnormalities. However, there is a small and poorly defined group of individuals who are at elevated risk for dangerous ventricular arrhythmias and sudden cardiac death (SCD) due to MVP. […] The identification of new genes, regulatory elements, post-transcriptional modifications, and molecular pathways is crucial to identify at-risk familial carriers and for developing novel therapeutic strategies.
  • #28 Valvular heart disease | Heart and Stroke Foundation
    https://www.heartandstroke.ca/heart-disease/conditions/valvular-heart-disease
    Valvular heart disease can develop before or at birth (congenital causes) or normal valves may become damaged during ones lifetime (acquired causes). The cause of valvular heart disease is not always known. Support for more research into the causes of valvular heart disease is needed. […] Congenital valvular heart disease is a birth defect that may involve a heart valve being the wrong size or the wrong shape, or its valve flaps (leaflets) not being properly attached to the heart. […] Bicuspid aortic valve disease is a congenital defect that affects the aortic valve. Instead of the normal three leaflets, the bicuspid aortic valve has only two leaflets. Without the third leaflet, the valve is unable to open or close properly, is more prone to aortic valve stenosis, and may lead to regurgitation. […] Marfan syndrome is a genetic disorder that affects the bodys connective tissue. Connective tissue holds all the bodys cells, organs and tissues together, including in the heart. People with Marfan syndrome may develop mitral valve prolapse and aortic valve regurgitation.
  • #29 Mitral Valve Regurgitation Causes, Symptoms, and Treatment
    https://www.upmc.com/services/heart-vascular/conditions/mitral-valve-regurgitation
    The most common cause of MR is mitral valve prolapse. […] Some people are born with damage to the flaps, causing the valve to work improperly. […] Conditions such as Marfan syndrome, Ehlers-Danlos syndrome, scleroderma, and lupus have become linked to MR. […] Mitral valve prolapse causes one or both of the valve’s two flaps to stretch or get too large. […] This type of mitral regurgitation is called degenerative regurgitation. […] Another common cause of MR is endocarditis, a bacterial infection. […] Bacteria enter the bloodstream often from dental procedures or poor oral health and attach to the valve, causing an infection. […] Other well-known causes of MR include: […] Heart attack or lack of blood supply to the heart muscle. […] This can stretch the heart’s left lower chamber and the mitral valve, causing it to leak. […] Irregular heart rhythms, such as AFib. […] Abnormal heart rhythms lead to stretching of the heart’s left upper chamber and the mitral valve. […] Rheumatic fever can lead to scarring of the flaps and cause the valve to leak. […] Traumatic injury can lead to a rupture of the valve apparatus.
  • #30 Valvular heart disease – Wikipedia
    https://en.wikipedia.org/wiki/Valvular_heart_disease
    Marfan’s Syndrome is a connective tissue disorder that can lead to chronic aortic or mitral regurgitation. Osteogenesis imperfecta is a disorder in formation of type I collagen and can also lead to chronic aortic regurgitation. […] Inflammation of the heart valves due to any cause is called valvular endocarditis; this is usually due to bacterial infection but may also be due to cancer (marantic endocarditis), certain autoimmune conditions (Libman-Sacks endocarditis, seen in systemic lupus erythematosus) and hypereosinophilic syndrome (Loeffler endocarditis). Endocarditis of the valves can lead to regurgitation through that valve, which is seen in the tricuspid, mitral, and aortic valves. […] Valvular heart disease resulting from rheumatic fever is referred to as rheumatic heart disease. Acute rheumatic fever, which frequently manifests with carditis and valvulitis, is a late sequela of Group A beta-hemolytic streptococcus infection in the throat, often lagging the initial infection by weeks to months. Cardiac involvement is dependent on the cross-reaction of antibodies directed against M proteins produced by bacteria with human proteins present in the myocardium or endocardium. This results in generalized inflammation in the heart, producing acute erosions and vegetations with fibrin deposition in the mitral valve that may be followed by chronic changes over years to decades, including shortening of the chordae tendinae and thickening or fusion of the mitral leaflets, leading to a severely compromised „buttonhole” or „fish mouth” valve.
  • #31 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 aim of MV repair is not merely for anatomy repair of the MV, but more importantly, for recovery of functional hemodynamic. […] Surgical treatment of CMVM remains a considerable therapeutic challenge, including valve repair or valve replacement. […] The CMVM encompasses complex lesions, including anomalies on valvar leaflets, tensor apparatus, and papillary muscles. […] The significant abnormality in congenital MV stenosis is the abnormally developed papillary muscles and associated chordal structures. […] CMVM in pediatric patients encompasses a broad range of pathology, varying in different anatomical abnormalities.
  • #32 Heart Valve Malformation in Cats | PetMD
    https://www.petmd.com/cat/conditions/cardiovascular/c_ct_atrioventricular_valve_dysplasia
    Congenital heart defects are rare in cats. It is estimated that less than 1 percent of the population is affected, with males and purebred cats such as Maine Coons and Ragdolls having a higher incidence. […] Specifically, with atrioventricular valve dysplasia, the defects are present at birth and mostly involve some sort of developmental problem where the valves are thickened, shortened or attached to the wrong location of the heart. The chordae tendineae (cords of tissue that connect the valves to the heart muscle) may be thickened or elongated which affects the valves ability to function.
  • #33 Congenital Mitral Leaflet Fissuration: Causes, Diagnosis, and Treatment
    https://angolodeldottorino.it/en/Medicine/Cardiology/Congenital_Heart_Diseases/Congenital_Mitral_Leaflet_Fissuration.php
    The presence of fissures in the mitral leaflets disrupts the valve closure mechanism, leading to varying degrees of mitral regurgitation. […] In severe cases, fissuration may predispose to progressive heart failure and an increased risk of infective endocarditis due to the blood turbulence caused by regurgitation.
  • #34 Congenital and Inherited Disorders of the Cardiovascular System in Dogs – Dog Owners – Merck Veterinary Manual
    https://www.merckvetmanual.com/dog-owners/heart-and-blood-vessel-disorders-of-dogs/congenital-and-inherited-disorders-of-the-cardiovascular-system-in-dogs
    Mitral valve dysplasia refers to abnormal development or malformation of the mitral valve of the heart, allowing regurgitation of blood back into the left atrium. […] Breeds of dogs most likely to be born with mitral valve dysplasia are Bull Terriers, German Shepherds, and Great Danes. […] Longterm mitral regurgitation results in enlargement of the left ventricle and atrium. […] When the regurgitation is severe, blood flow from the heart decreases and fluid accumulates in the lungs, producing signs of heart failure. […] The outlook for dogs with signs and severe disease is poor. […] Mitral valve stenosis is a narrowing of the mitral valve opening caused by abnormalities of the mitral valve. […] This obstructs blood inflow to the left ventricle. […] The defect is rare in dogs, but it can occur together with other congenital defects such as subaortic stenosis, mitral valve dysplasia, and pulmonic stenosis (all discussed earlier in this chapter).
  • #35 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
    The diagnosis of CMVL is commonly made by echocardiography, particularly TEE with 3-D acquisition. […] 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. […] 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.