Choroba serca wrodzona – Diagnostyka i diagnoza

Choroba serca wrodzona
Diagnostyka i diagnoza

Choroba serca wrodzona (CHD) dotyczy około 1% żywych urodzeń i jest główną przyczyną zgonów niemowląt z wadami wrodzonymi. Diagnostyka może być prowadzona prenatalnie (18-22 tydzień ciąży) za pomocą echokardiografii płodowej, rutynowego USG oraz testów genetycznych, co umożliwia wczesne planowanie opieki i interwencji. Po urodzeniu stosuje się badanie fizykalne, pulsoksymetrię (standardowe badanie przesiewowe u noworodków), echokardiogram, EKG oraz RTG klatki piersiowej. W przypadku złożonych wad lub niejednoznacznych wyników stosuje się zaawansowane metody diagnostyczne, takie jak cewnikowanie serca, rezonans magnetyczny (MRI), tomografia komputerowa (CT), przezprzełykowe echo (TEE), badania wysiłkowe i elektrofizjologiczne. Wczesna diagnoza, zwłaszcza krytycznych wad serca (CCHD), które stanowią 25% CHD, znacząco poprawia rokowanie i zmniejsza śmiertelność, m.in. dzięki obowiązkowej pulsoksymetrii, która redukuje zgony o 33%.

Diagnostyka choroby serca wrodzonej

Choroba serca wrodzona (ang. Congenital Heart Disease, CHD) to najczęstszy typ wady wrodzonej, występujący u około 1% żywych urodzeń, co przekłada się na blisko 40 000 przypadków rocznie w Stanach Zjednoczonych¹². Stanowi ona główną przyczynę zgonów niemowląt związanych z wadami wrodzonymi i odpowiada za 4% zgonów noworodków³. Diagnostyka choroby serca wrodzonej może nastąpić na różnych etapach życia – w okresie prenatalnym, zaraz po urodzeniu, w dzieciństwie, a nawet w wieku dorosłym⁴⁵.

Diagnostyka prenatalna

Wiele przypadków choroby serca wrodzonej można zdiagnozować jeszcze przed urodzeniem dziecka⁶. Metody diagnostyki prenatalnej obejmują:

Rutynowe badanie ultrasonograficzne płodu – wstępne podejrzenie wady serca może pojawić się podczas standardowego badania USG w czasie ciąży, zwykle między 18. a 22. tygodniem⁷⁸
Echokardiografia płodowa (fetal echocardiography) – specjalistyczne badanie ultrasonograficzne skupiające się na sercu płodu, które może potwierdzić diagnozę wady serca wrodzonej. Jest to najczęściej stosowane narzędzie do wykrywania strukturalnych wad serca i zaburzeń rytmu serca w okresie prenatalnym⁹¹⁰
Testy genetyczne – badania genetyczne mogą być zalecane, szczególnie jeśli istnieje podejrzenie, że wada serca może być związana z zespołem genetycznym¹¹

Wczesna diagnostyka prenatalna niesie za sobą liczne korzyści, w tym możliwość planowania porodu w odpowiednim ośrodku medycznym, przygotowanie zespołu medycznego do natychmiastowej interwencji po urodzeniu oraz poradnictwo genetyczne dla rodziców¹²¹³.

Diagnostyka po urodzeniu

Po urodzeniu dziecka istnieje kilka metod diagnostycznych służących do wykrywania choroby serca wrodzonej:

Badanie fizykalne – podczas badania lekarz osłuchuje serce dziecka w poszukiwaniu nieprawidłowych dźwięków lub szmerów sercowych. Obserwuje również objawy takie jak sinica (niebieskawe zabarwienie skóry), trudności w oddychaniu lub nieprawidłowe tętno¹⁴¹⁵
Pulsoksymetria – prosty, nieinwazyjny test mierzący poziom tlenu we krwi za pomocą czujnika umieszczonego na palcu u ręki lub nogi. Zbyt niski poziom tlenu może wskazywać na problem z sercem. Jest to standardowe badanie przesiewowe wykonywane u noworodków przed wypisem ze szpitala¹⁶¹⁷
Echokardiogram – wykorzystuje fale dźwiękowe do tworzenia obrazów bijącego serca. Pokazuje przepływ krwi przez serce i zastawki sercowe, umożliwiając ocenę struktury i funkcji serca¹⁸¹⁹
Elektrokardiogram (EKG) – rejestruje elektryczną aktywność serca, pokazując sposób jego bicia i ewentualne zaburzenia rytmu²⁰²¹
Zdjęcie rentgenowskie klatki piersiowej – pokazuje stan serca i płuc. Może wykazać, czy serce jest powiększone lub czy płuca zawierają dodatkową krew lub płyn, co może być oznaką niewydolności serca²²²³

W przypadku bardziej złożonych wad serca lub gdy podstawowe badania nie dają jednoznacznej diagnozy, mogą być zlecone bardziej zaawansowane badania²⁴.

Zaawansowane metody diagnostyczne

Do zaawansowanych metod diagnostycznych wykorzystywanych w diagnozie CHD należą:

Cewnikowanie serca (kardiologiczne) – procedura, podczas której cienki, elastyczny cewnik wprowadzany jest do naczynia krwionośnego, zwykle w pachwinie, i prowadzony do serca. Umożliwia to szczegółową ocenę przepływu krwi i sposobu funkcjonowania serca. Badanie to dostarcza dokładnych informacji o ciśnieniu i poziomie tlenu wewnątrz komór serca i naczyń krwionośnych²⁵²⁶
Rezonans magnetyczny serca (MRI) – badanie wykorzystujące pole magnetyczne i fale radiowe do tworzenia szczegółowych obrazów serca. Może być stosowane do diagnozy i monitorowania wad serca u młodzieży i dorosłych²⁷²⁸
Tomografia komputerowa (CT) – wykorzystuje promieniowanie rentgenowskie do tworzenia trójwymiarowych, przekrojowych obrazów serca i naczyń krwionośnych²⁹³⁰
Przezprzełykowe badanie echokardiograficzne (TEE) – bardziej zaawansowana forma echokardiografii, w której sonda ultrasonograficzna wprowadzana jest przez przełyk, co pozwala na uzyskanie wyraźniejszego obrazu serca³¹³²
Badanie wysiłkowe – ocenia funkcjonowanie serca podczas wysiłku fizycznego, jak chodzenie na bieżni lub jazda na rowerze stacjonarnym. Jest szczególnie przydatne u starszych dzieci i dorosłych³³³⁴
Badanie elektrofizjologiczne – specjalistyczne cewnikowanie serca, które bada elektryczną lub rytmiczną funkcję serca zamiast przepływu krwi³⁵³⁶
Holter i monitory zdarzeń – przenośne urządzenia używane do oceny objawów takich jak zawroty głowy, omdlenia, niskie ciśnienie krwi, ból w klatce piersiowej i kołatanie serca³⁷

Diagnostyka u dorosłych

Niektóre wady serca wrodzone mogą pozostać niewykryte do wieku młodzieńczego lub dorosłego³⁸³⁹. U osób dorosłych diagnostyka wad wrodzonych serca obejmuje podobne metody jak u dzieci, jednak z uwzględnieniem specyfiki wieku dorosłego:

Dokładny wywiad medyczny i rodzinny⁴⁰
Badanie fizykalne z osłuchiwaniem serca⁴¹
Badania obrazowe serca (echokardiogram, MRI, CT)⁴²
Elektrokardiogram i badania wysiłkowe⁴³
Cewnikowanie serca w przypadkach wymagających dokładniejszej oceny⁴⁴

Dla dorosłych z CHD ważne jest regularne monitorowanie stanu zdrowia przez kardiologa specjalizującego się w wadach wrodzonych serca, nawet jeśli przeszli zabieg korekcyjny w dzieciństwie⁴⁵⁴⁶.

Nowoczesne techniki diagnostyczne

Postęp technologiczny umożliwił rozwój nowych metod diagnostycznych, które poprawiają dokładność diagnozy i planowanie leczenia:

Echokardiografia trójwymiarowa (3D) – dostarcza przestrzennych obrazów serca, co jest szczególnie przydatne w ocenie złożonych wad serca⁴⁷⁴⁸
Obrazowanie 4D MRI – pozwala na dynamiczną ocenę przepływu krwi w sercu i dużych naczyniach⁴⁹
Rekonstrukcje 3D – wykorzystanie danych z badań CT lub MRI do tworzenia trójwymiarowych modeli serca, co pomaga w planowaniu zabiegów i ocenie złożonych wad⁵⁰⁵¹
Druk 3D – tworzenie fizycznych modeli serca pacjenta na podstawie danych z badań CT lub MRI, co ułatwia zrozumienie skomplikowanej anatomii i planowanie zabiegów⁵²

Przesiewowe badania w kierunku krytycznych wad wrodzonych serca

Krytyczne wady wrodzone serca (Critical Congenital Heart Defects, CCHD) to podgrupa wad wymagających interwencji chirurgicznej lub cewnikowania w pierwszym roku życia⁵³. Stanowią one około 25% wszystkich CHD⁵⁴. Wczesne wykrycie CCHD jest kluczowe dla zmniejszenia zachorowalności i śmiertelności⁵⁵.

Pulsoksymetria jest obecnie standardowym badaniem przesiewowym w kierunku CCHD u noworodków⁵⁶. Badanie to mierzy poziom nasycenia krwi tlenem i może wykryć niski poziom tlenu będący wskaźnikiem potencjalnej wady serca⁵⁷. Obowiązkowe badania przesiewowe CCHD za pomocą pulsoksymetrii zmniejszają wczesne zgony niemowląt z powodu CCHD o 33%⁵⁸.

Należy jednak pamiętać, że badanie pulsoksymetryczne nie wykrywa wszystkich wad wrodzonych serca, dlatego ważne jest, aby nie zastępowało ono dokładnego badania fizykalnego i wywiadu rodzinnego⁵⁹⁶⁰.

Znaczenie wczesnej diagnozy

Wczesna diagnoza choroby serca wrodzonej niesie za sobą liczne korzyści⁶¹⁶²:

Umożliwia szybkie podjęcie leczenia, co może zapobiec rozwojowi powikłań
Pozwala na planowanie porodu w ośrodku specjalistycznym z dostępem do odpowiedniej opieki kardiologicznej
Zmniejsza ryzyko niestabilności hemodynamicznej u noworodka
Poprawia wyniki chirurgiczne i skraca pobyt w szpitalu
Umożliwia rodzicom przygotowanie się psychologicznie i uzyskanie informacji o prognozie i opcjach leczenia

Badania wykazały, że prenatalna diagnoza CHD prowadzi do lepszych wyników leczenia w porównaniu z diagnozą postawioną po urodzeniu w przypadku niektórych typów wad serca, takich jak przełożenie wielkich pni tętniczych czy zespół hipoplazji lewego serca⁶³⁶⁴.

Wyzwania diagnostyczne

Pomimo postępów w metodach diagnostycznych, wykrywanie wad wrodzonych serca wciąż napotyka pewne wyzwania⁶⁵⁶⁶:

Zróżnicowana dostępność specjalistycznych badań w różnych regionach świata
Ograniczona czułość rutynowych badań prenatalnych w wykrywaniu niektórych typów wad serca
Bariery ekonomiczne i społeczne ograniczające dostęp do opieki prenatalnej
Trudności w ocenie złożonych wad serca za pomocą standardowych metod obrazowania
Opóźnienia w kierowaniu pacjentów do specjalistów kardiologii dziecięcej

Badanie przeprowadzone wśród dzieci z CHD wykazało, że sześcioro na dziesięcioro dzieci miało opóźnioną diagnozę. Czynniki takie jak mieszkanie poza miastem, niskie dochody rodziny oraz normalne porody przyczyniały się do opóźnienia diagnozy⁶⁷.

Podsumowanie diagnostyki

Diagnostyka choroby serca wrodzonej jest procesem wieloetapowym, który może rozpocząć się jeszcze przed urodzeniem dziecka i kontynuować przez całe jego życie⁶⁸⁶⁹. Dzięki postępom w metodach obrazowania i badaniach genetycznych, coraz więcej wad serca jest diagnozowanych na wczesnym etapie, co umożliwia skuteczniejsze leczenie i poprawę jakości życia pacjentów⁷⁰.

Kluczową rolę w diagnostyce odgrywa echokardiografia, zarówno prenatalna jak i wykonywana po urodzeniu, która jest podstawowym narzędziem do wykrywania strukturalnych wad serca⁷¹. W przypadkach bardziej złożonych wad lub gdy echokardiografia nie dostarcza wystarczających informacji, stosowane są zaawansowane metody obrazowania, takie jak MRI, CT czy cewnikowanie serca⁷².

Wczesna i dokładna diagnoza ma kluczowe znaczenie dla odpowiedniego planowania leczenia i poprawy rokowania pacjentów z CHD. Dzięki postępom w diagnostyce i leczeniu, obecnie około 90% pacjentów z wrodzonymi wadami serca przeżywa i może prowadzić aktywne życie⁷³.

Metoda diagnostyczna	Zastosowanie	Zalety	Ograniczenia
Echokardiografia płodowa	Diagnostyka prenatalna (18-22 tydzień ciąży)	Nieinwazyjna, wysoka dokładność, wczesna diagnoza	Ograniczona możliwość wizualizacji niektórych wad
Pulsoksymetria	Badanie przesiewowe u noworodków	Prosta, nieinwazyjna, szybka	Nie wykrywa wszystkich typów wad serca
Echokardiografia	Podstawowa diagnostyka po urodzeniu	Nieinwazyjna, dostarcza informacji o anatomii i funkcji	Ograniczona dokładność przy złożonych wadach
Elektrokardiogram (EKG)	Ocena aktywności elektrycznej serca	Nieinwazyjny, szybki, łatwo dostępny	Niska swoistość dla konkretnych wad
RTG klatki piersiowej	Ocena wielkości serca i płuc	Powszechnie dostępny, szybki	Ograniczona specyficzność, narażenie na promieniowanie
Cewnikowanie serca	Zaawansowana diagnostyka i interwencje	Dostarcza szczegółowych danych hemodynamicznych	Inwazyjna, wymaga sedacji, ryzyko powikłań
Rezonans magnetyczny (MRI)	Zaawansowana diagnostyka obrazowa	Wysoka rozdzielczość, brak promieniowania	Wysoki koszt, długi czas badania, wymaga sedacji u małych dzieci
Tomografia komputerowa (CT)	Zaawansowana diagnostyka obrazowa	Szybka, wysoka rozdzielczość przestrzenna	Narażenie na promieniowanie, mniej informacji funkcjonalnych
Badanie genetyczne	Diagnostyka przyczyn genetycznych	Identyfikacja zespołów genetycznych, poradnictwo	Wysoki koszt, ograniczona dostępność, długi czas oczekiwania na wyniki
Echokardiografia 3D	Zaawansowana ocena złożonych wad	Lepsza wizualizacja przestrzenna	Wymaga specjalistycznego sprzętu i doświadczenia

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Materiały źródłowe

#1 Congenital Heart Disease Symptoms & Treatment | UPMC
https://www.upmc.com/services/pulmonology/conditions/congenital-heart-disease
According to the CDC, congenital heart disease (CHD) affects 1% or nearly 40,000 births per year in the United States. […] CHD describes any problem with the heart’s structure that is present at birth, and it is the most common birth defect, occurring in nearly one percent of all births. […] To diagnose congenital heart disease, your doctor will listen to the heart for a murmur. […] If your doctor hears a murmur and suspects that it could be the sign of something more serious, like CHD, he or she will perform a series of tests. […] These heart tests can include: Fetal echocardiogram, Echocardiogram, Fetal electrocardiogram, Chest X-ray, Pulse oximetry, Cardiac catheterization.
#2
#3 Congenital heart disease: Prenatal screening, diagnosis, and management – UpToDate
https://www.uptodate.com/contents/congenital-heart-disease-prenatal-screening-diagnosis-and-management
Congenital heart disease: Prenatal screening, diagnosis, and management […] Prenatal identification and management of fetal cardiac abnormalities are important because congenital anomalies are a leading cause of infant death, and congenital heart disease (CHD) is the leading cause of death among infants with congenital anomalies. In the United States, CHD is diagnosed in approximately 1 percent of births, accounts for 4 percent of neonatal deaths, and accounts for 30 to 50 percent of deaths related to congenital anomalies. […] This topic will present an overview of prenatal screening and diagnosis of CHD and management of affected pregnancies. […] Benefits of prenatal diagnosis of CHD provides parents an opportunity to obtain information about the child’s prognosis prior to birth.
#4
https://www.nhs.uk/conditions/congenital-heart-disease/diagnosis/
In many cases, congenital heart disease is diagnosed in a baby during pregnancy. However, a diagnosis may sometimes only be confirmed after the birth. […] Congenital heart disease may initially be suspected during a routine ultrasound scan of the baby in the womb. Specialist ultrasound, called foetal echocardiography, will then be carried out at around 18 to 22 weeks of the pregnancy to try to confirm the exact diagnosis. […] It’s sometimes possible to diagnose a baby with congenital heart disease shortly after birth if some of the characteristic signs or symptoms of congenital heart disease, such as a blue tinge to the skin or lips (cyanosis), are present. […] Further tests may be used to diagnose congenital heart disease. […] An echocardiogram is often used to check the inside of the heart. Heart problems that were missed during foetal echocardiography can sometimes be detected as a child develops.
#5 Congenital Heart Disease: Symptoms & Treatment
https://my.clevelandclinic.org/health/diseases/21674-congenital-heart-disease
Congenital heart disease (CHD) is a problem with how your heart forms before birth. […] Healthcare providers can detect heart defects early (before or shortly after birth). But sometimes, people dont get a CHD diagnosis until childhood, adolescence or adulthood. […] Sometimes a healthcare provider finds a congenital condition before a baby is born. If your provider finds anything unusual during a routine prenatal ultrasound, you and the fetus may need further testing. […] Providers detect other heart issues soon after a baby is born. For example, they can diagnose cyanotic CHD with pulse oximetry. The simple, painless test uses sensors on your babys fingers or toes to find out if oxygen levels are too low. Sometimes, people dont get a congenital heart defect diagnosis until later in life.
#6 About Congenital Heart Defects | Congenital Heart Defects (CHDs) | CDC
https://www.cdc.gov/heart-defects/about/index.html
Some heart defects can be found during pregnancy using a special type of ultrasound called a fetal echocardiogram. […] If a healthcare provider suspects a defect, the baby can get several tests (such as an echocardiogram) to confirm the diagnosis. […] After birth, newborn screening for critical heart defects can help identify babies whose heart defects were not detected during pregnancy. […] Newborn screening for critical heart defects involves a simple bedside test called pulse oximetry. […] Screening newborns for heart defects enables them to be treated early and may prevent other health problems or early death.
#7 Diagnosing Congenital Heart Defects in Children | NYU Langone Health
https://nyulangone.org/conditions/congenital-heart-defects-in-children/diagnosis
Our specialists can diagnose congenital heart defects before birth, shortly after birth, or during childhood. […] Specialists at the Pediatric Congenital Heart Program, part of Hassenfeld Childrens Hospital at NYU Langone, may diagnose congenital heart defects before birth, shortly after birth, or during childhood. They do so in collaboration with maternalfetal medicine specialists and pediatricians. […] A diagnosis of a congenital heart defect often begins when something unusual is noticed on a routine prenatal ultrasound, while a baby is in the womb. If a congenital heart defect is suspected on routine ultrasound, then the mother is referred to a pediatric cardiologist for a fetal echocardiogram. […] After birth, heart specialists perform a physical exam and several other tests to confirm congenital heart disease in a newborn. These tests may also be used to make an initial diagnosis in infants and children who have symptoms of congenital heart disease but were not diagnosed prenatally.
#8
https://www.nhs.uk/conditions/congenital-heart-disease/diagnosis/
In many cases, congenital heart disease is diagnosed in a baby during pregnancy. However, a diagnosis may sometimes only be confirmed after the birth. […] Congenital heart disease may initially be suspected during a routine ultrasound scan of the baby in the womb. Specialist ultrasound, called foetal echocardiography, will then be carried out at around 18 to 22 weeks of the pregnancy to try to confirm the exact diagnosis. […] It’s sometimes possible to diagnose a baby with congenital heart disease shortly after birth if some of the characteristic signs or symptoms of congenital heart disease, such as a blue tinge to the skin or lips (cyanosis), are present. […] Further tests may be used to diagnose congenital heart disease. […] An echocardiogram is often used to check the inside of the heart. Heart problems that were missed during foetal echocardiography can sometimes be detected as a child develops.
#9 Congenital heart defects in children – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/congenital-heart-defects-children/diagnosis-treatment/drc-20350080
Pediatric cardiologist Jonathan Johnson, M.D., answers the most frequently asked questions about congenital heart defects in children. […] Some very minor forms of congenital heart disease, like very small holes in the heart or very mild stenosis of different heart valves may just need to be followed every couple of years with some sort of an imaging study like an echocardiogram. Other more significant forms of congenital heart disease may require surgery that could be done via an open heart surgery, or it could be done in the cardiac catheterization lab using different devices or different techniques. In certain very severe situations, if surgery can’t be performed, transplant may be indicated. […] A congenital heart defect may be diagnosed during pregnancy or after birth. Signs of certain heart defects can be seen on a routine pregnancy ultrasound test (fetal ultrasound).
#10 Prenatal diagnosis of congenital heart defects: echocardiography – Sun – Translational Pediatrics
https://tp.amegroups.org/article/view/51833/html
Congenital heart defects (CHD) are the most common congenital anomaly, and the majority can be diagnosed during prenatal life. […] The majority of CHD can be diagnosed during prenatal life by fetal echocardiography, which has been utilized to detect CHD in utero since 1980. […] Prompt recognition of CHD in the fetus allows the family time to evaluate for potential associated extracardiac anomalies and/or genetic syndromes and make decisions regarding pregnancy continuation. […] Prenatal diagnosis of critical CHD leads to appropriate prenatal multidisciplinary maternal and fetal care and delivery planning in an effort to decrease the risk of neonatal hemodynamic instability while transitioning to postnatal management in a pediatric cardiac center. […] Screening for cardiac anomalies should occur in all pregnancies during routine obstetric anatomic ultrasound examination during the second trimester.
#11 Congenital Heart Disease: Symptoms, Causes, Diagnosis, Treatment
https://www.webmd.com/heart-disease/congenital-heart-disease
„Doctors may find some problems during pregnancy. Your doctor may be able to identify a defect before your babys birth with: […] A fetal echocardiogram. This test uses pictures made by an ultrasound to show the heart in motion so your doctor can see things that are wrong with its valves and structure. […] Gene testing. A geneticist takes a small blood sample before or during your pregnancy. Its important because if you or a family member has an abnormality, your childs chances of having it can go up by as much as 50%. […] Other problems may be found in infants or kids. The doctor listens to your childs heartbeat to check their health. If they hear an unusual sound or heart murmur, they might order more tests, such as: […] Echocardiogram. This is a painless type of ultrasound that takes pictures of the heart. It can spot almost any kind of congenital heart defect and usually takes less than an hour.
#12 Early Diagnosis of Congenital Heart Disease: When and How to Treat | SpringerLink
http://link.springer.com/10.1007/978-3-319-29489-6_215
Echocardiography is an essential tool in the evaluation of neonates and has dramatically improved the accuracy of diagnosis of congenital heart disease. The antenatal diagnosis of CHD by fetal echocardiography carries important advantages: less hypoxia and preoperative acidosis, fewer adverse neurological events and earlier surgery, opportunities for parental counseling, and the optimization of perinatal care with the selection of an optimal site for delivery.
#13 Prenatal diagnosis of congenital heart defects: echocardiography – Sun – Translational Pediatrics
https://tp.amegroups.org/article/view/51833/html
The optimal timing for screening fetal echocardiography is typically between 18-22 weeks gestation. […] Fetal echocardiography should be performed as soon as possible following abnormal findings on obstetric ultrasound. […] The prenatal diagnosis of CHD should prompt a thorough evaluation for extracardiac anomalies or genetic syndrome in the fetus. […] Fetal cardiac intervention in a small subset of fetuses with CHD may be considered in an effort to alter natural in utero course, increase postnatal treatment options, and improve long-term outcomes. […] Fetal echocardiography can guide delivery planning, as infants with critical CHD can have significant cyanosis, hypoxemia, and/or cardiogenic shock leading to morbidity/mortality after birth if not expeditiously treated. […] Prenatal detection improves pre-operative morbidity, mortality, and outcomes in certain types of CHD, such as d-TGA and HLHS.
#14 Congenital Heart Disease: Symptoms & Treatment
https://my.clevelandclinic.org/health/diseases/21674-congenital-heart-disease
Tests that can help diagnose CHD in newborns, children or adults include: Physical exam: During an exam, a healthcare provider will listen to your heart for any abnormal sounds. […] Congenital heart disease treatment may involve: A catheter procedure to place a plug into a defect. […] Some cases of CHD may not need any treatment. Others are life-threatening and need treatment soon after birth. […] The outlook for people with congenital heart disease depends on the type of issue and its severity. Although serious cases can be life-threatening, many people with CHD live long, relatively normal and fulfilling lives. […] Advances in diagnosis and treatment now help about 90% survive.
#15 Congenital heart disease in adults – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/adult-congenital-heart-disease/diagnosis-treatment/drc-20355461
To diagnose congenital heart disease in adults, your healthcare professional examines you and listens to your heart with a stethoscope. You are usually asked questions about your symptoms and medical and family history. […] Tests to diagnose or confirm congenital heart disease in adults include: […] Electrocardiogram (ECG). This quick test records the electrical activity of the heart. It shows how the heart is beating. […] Chest X-ray. A chest X-ray shows the condition of the heart and lungs. It can tell if the heart is enlarged or if the lungs have extra blood or other fluid. […] Pulse oximetry. A sensor placed on the fingertip records how much oxygen is in the blood. Too little oxygen may be a sign of a heart or lung condition. […] Echocardiogram. An echocardiogram uses sound waves to create pictures of the beating heart. It shows how blood flows through the heart and heart valves.
#16 Clinical Screening and Diagnosis for Critical Congenital Heart Defects | Congenital Heart Defects (CHDs) | CDC
https://www.cdc.gov/heart-defects/hcp/screening/index.html
Screening for critical congenital heart defects (CCHDs) can help identify some babies with a CCHD before they go home from the birth hospital. […] Screening allows babies to be treated early and may prevent disability or death early in life. […] Newborn screening may identify critical congenital heart defects (CCHDs) before signs are evident. Identifying newborns with these conditions before hospital discharge can help ensure they receive prompt care and treatment. Timely care may prevent disability or death early in life. […] Mandated CCHD screening using pulse oximetry reduces early infant deaths from CCHD by 33%, or 120 early infant deaths from CCHD averted per year. […] Pulse oximetry screening should not replace taking a complete family health history, pregnancy history, or physical examination. These exams may detect CCHDs before the development of low oxygen levels (hypoxemia) in the blood.
#17 Congenital heart disease in adults – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/adult-congenital-heart-disease/diagnosis-treatment/drc-20355461
To diagnose congenital heart disease in adults, your healthcare professional examines you and listens to your heart with a stethoscope. You are usually asked questions about your symptoms and medical and family history. […] Tests to diagnose or confirm congenital heart disease in adults include: […] Electrocardiogram (ECG). This quick test records the electrical activity of the heart. It shows how the heart is beating. […] Chest X-ray. A chest X-ray shows the condition of the heart and lungs. It can tell if the heart is enlarged or if the lungs have extra blood or other fluid. […] Pulse oximetry. A sensor placed on the fingertip records how much oxygen is in the blood. Too little oxygen may be a sign of a heart or lung condition. […] Echocardiogram. An echocardiogram uses sound waves to create pictures of the beating heart. It shows how blood flows through the heart and heart valves.
#18 Congenital heart disease in adults – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/adult-congenital-heart-disease/diagnosis-treatment/drc-20355461
To diagnose congenital heart disease in adults, your healthcare professional examines you and listens to your heart with a stethoscope. You are usually asked questions about your symptoms and medical and family history. […] Tests to diagnose or confirm congenital heart disease in adults include: […] Electrocardiogram (ECG). This quick test records the electrical activity of the heart. It shows how the heart is beating. […] Chest X-ray. A chest X-ray shows the condition of the heart and lungs. It can tell if the heart is enlarged or if the lungs have extra blood or other fluid. […] Pulse oximetry. A sensor placed on the fingertip records how much oxygen is in the blood. Too little oxygen may be a sign of a heart or lung condition. […] Echocardiogram. An echocardiogram uses sound waves to create pictures of the beating heart. It shows how blood flows through the heart and heart valves.
#19 Congenital heart defects in children – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/congenital-heart-defects-children/diagnosis-treatment/drc-20350080
Tests to diagnose a congenital heart defect include: Pulse oximetry. A sensor placed on the fingertip records the amount of oxygen in the blood. Too little oxygen may be a sign of a heart or lung problem. […] Electrocardiogram (ECG or EKG). This quick test records the electrical activity of the heart. It shows how the heart is beating. […] Echocardiogram. Sound waves are used to create images of the heart in motion. An echocardiogram shows how blood moves through the heart and heart valves. […] Chest X-ray. A chest X-ray shows the condition of the heart and lungs. It can show if the heart is enlarged, or if the lungs contain extra blood or other fluid. These could be signs of heart failure. […] Cardiac catheterization. In this test, a doctor inserts a thin, flexible tube called a catheter into a blood vessel, usually in the groin area, and guides it to the heart. This test can give detailed information on blood flow and how the heart works. Some heart treatments can be done during cardiac catheterization.
#20 Congenital heart disease in adults – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/adult-congenital-heart-disease/diagnosis-treatment/drc-20355461
To diagnose congenital heart disease in adults, your healthcare professional examines you and listens to your heart with a stethoscope. You are usually asked questions about your symptoms and medical and family history. […] Tests to diagnose or confirm congenital heart disease in adults include: […] Electrocardiogram (ECG). This quick test records the electrical activity of the heart. It shows how the heart is beating. […] Chest X-ray. A chest X-ray shows the condition of the heart and lungs. It can tell if the heart is enlarged or if the lungs have extra blood or other fluid. […] Pulse oximetry. A sensor placed on the fingertip records how much oxygen is in the blood. Too little oxygen may be a sign of a heart or lung condition. […] Echocardiogram. An echocardiogram uses sound waves to create pictures of the beating heart. It shows how blood flows through the heart and heart valves.
#21 Congenital Heart Defects – Diagnosis | NHLBI, NIH
https://www.nhlbi.nih.gov/health/congenital-heart-defects/diagnosis
Some congenital heart defects are diagnosed during pregnancy or soon after birth. Others may not be diagnosed until adulthood. A doctor will do a physical exam to looks for symptoms of a congenital heart defect. Based on what they find, they may order tests to confirm their diagnosis. […] You or your baby may need one or more of the following tests to determine whether symptoms are caused by a congenital heart defect: […] Echocardiography or echo is a painless test that uses sound waves to create moving pictures of the heart. It can help diagnose a heart defect or be used to follow progress over time. Echocardiography used during pregnancy (fetal echocardiography) can sometimes be used to help find a congenital heart defect before a baby is born. […] Electrocardiogram (EKG or ECG) to evaluate the rhythm of the heartbeat.
#22 Congenital heart disease in adults – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/adult-congenital-heart-disease/diagnosis-treatment/drc-20355461
To diagnose congenital heart disease in adults, your healthcare professional examines you and listens to your heart with a stethoscope. You are usually asked questions about your symptoms and medical and family history. […] Tests to diagnose or confirm congenital heart disease in adults include: […] Electrocardiogram (ECG). This quick test records the electrical activity of the heart. It shows how the heart is beating. […] Chest X-ray. A chest X-ray shows the condition of the heart and lungs. It can tell if the heart is enlarged or if the lungs have extra blood or other fluid. […] Pulse oximetry. A sensor placed on the fingertip records how much oxygen is in the blood. Too little oxygen may be a sign of a heart or lung condition. […] Echocardiogram. An echocardiogram uses sound waves to create pictures of the beating heart. It shows how blood flows through the heart and heart valves.
#23
https://www.nhs.uk/conditions/congenital-heart-disease/diagnosis/
An electrocardiogram (ECG) is a test that measures the heart’s electrical activity. […] A chest X-ray of the heart and lungs can be used to check whether there’s an excess amount of blood in the lungs, or whether the heart is larger than normal. Both may be signs of heart disease. […] Pulse oximetry is a test that measures the amount of oxygen present in the blood. […] Cardiac catheterisation is a useful way of obtaining more information about exactly how the blood is being pumped through the heart.
#24 Symptoms and Diagnosis of Congenital Heart Defects | American Heart Association
https://www.heart.org/en/health-topics/congenital-heart-defects/symptoms–diagnosis-of-congenital-heart-defects
A congenital heart defect (CHD) is often diagnosed in infancy, or even before birth. But some defects are harder to detect than others and may not be diagnosed until much later in childhood or even adulthood. […] If you or your child has a congenital heart defect, itâs important to follow up regularly with a cardiologist. Your cardiologist can perform a range of tests to evaluate your heart problem. […] Sometimes the initial tests donât provide enough information for a complete diagnosis, and more tests may be necessary. […] If the heart problem is suspected based on symptoms or a heart murmur, your childâs pediatrician or family physician will likely refer your child to a pediatric cardiologist. Pediatric cardiologists are trained to diagnose and treat heart problems in infants, children and young adults.
#25 Congenital Heart Defects – Diagnosis | NHLBI, NIH
https://www.nhlbi.nih.gov/health/congenital-heart-defects/diagnosis
Cardiac catheterization to measure the pressure and oxygen level inside the heart chambers and blood vessels. This can help the doctor figure out whether blood is flowing from the left side of the heart into the right side of the heart, instead of going to the rest of the body. […] Chest X-ray to show whether the heart is enlarged. It can also show whether the lungs have extra blood flow or extra fluid, which can be a sign of heart failure. […] Genetic testing to determine if particular genes or genetic conditions are causing the congenital heart defect. Your doctor may refer you or your child to a doctor who specializes in genetic testing. […] Cardiac MRI to diagnose a heart defect or follow progress over time. […] Pulse oximetry to estimate how much oxygen is in the blood.
#26 Congenital heart disease in adults – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/adult-congenital-heart-disease/diagnosis-treatment/drc-20355461
Exercise stress tests. These tests often involve walking on a treadmill or riding a stationary bike while the heart activity is checked. […] Heart MRI. A heart MRI, also called a cardiac MRI, may be done to diagnose and look at congenital heart disease. […] Cardiac catheterization. In this test, a thin, flexible tube called a catheter is inserted into a blood vessel, usually in the groin area, and guided to the heart. This test can provide detailed information on blood flow and how the heart works. […] Some or all of these tests also may be done to diagnose congenital heart defects in children.
#27 Congenital heart defects in children – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/congenital-heart-defects-children/diagnosis-treatment/drc-20350080
Heart MRI. Also called a cardiac MRI, this test uses magnetic fields and radio waves to create detailed images of the heart. A cardiac MRI may be done to diagnose and evaluate congenital heart defects in adolescents and adults. […] If your child has a severe congenital heart defect, a heart procedure or surgery may be recommended. […] Heart procedures and surgeries done to treat congenital heart defects include: Cardiac catheterization. Some types of congenital heart defects in children can be repaired using thin, flexible tubes called catheters. […] A child may need open-heart surgery or minimally invasive heart surgery to repair a congenital heart defect. […] If a serious congenital heart defect can’t be fixed, a heart transplant may be needed. […] Lifelong follow-up care is important. The child needs regular health checkups by a doctor trained in heart diseases, called a cardiologist. Follow-up care may include blood and imaging tests to check for complications.
#28 Diagnosing Adult Congenital Heart Disease | NYU Langone Health
https://nyulangone.org/conditions/adult-congenital-heart-disease/diagnosis
An MRI scan produces computerized, two- and three-dimensional images of the heart using a magnetic field and radio waves. […] A CT scan produces three-dimensional, cross-sectional images of the body using X-rays. […] A stress test provides information about the functioning of your heart and arteries. […] If exercise triggers rapid and irregular heart rhythms or causes unusual fatigue or shortness of breath, your doctor may perform a stress test to help assess your ability to tolerate exercise. […] Advanced cardiac ambulatory telemetry is a series of EKG tests that record the heart rhythm for a period of time, from 24 hours up to 4 weeks, if needed. […] An electrophysiological test helps your doctor determine the origin of an arrhythmia, assess the effectiveness of medication for heart rhythm disorders, or choose new treatments. […] Cardiac catheterization allows your heart specialist to diagnose problems with the heart caused by congenital defects, such as leaky or narrowed heart valves, holes in the walls between chambers, or a narrowing of blood vessels.
#29 Diagnosing Adult Congenital Heart Disease | NYU Langone Health
https://nyulangone.org/conditions/adult-congenital-heart-disease/diagnosis
An MRI scan produces computerized, two- and three-dimensional images of the heart using a magnetic field and radio waves. […] A CT scan produces three-dimensional, cross-sectional images of the body using X-rays. […] A stress test provides information about the functioning of your heart and arteries. […] If exercise triggers rapid and irregular heart rhythms or causes unusual fatigue or shortness of breath, your doctor may perform a stress test to help assess your ability to tolerate exercise. […] Advanced cardiac ambulatory telemetry is a series of EKG tests that record the heart rhythm for a period of time, from 24 hours up to 4 weeks, if needed. […] An electrophysiological test helps your doctor determine the origin of an arrhythmia, assess the effectiveness of medication for heart rhythm disorders, or choose new treatments. […] Cardiac catheterization allows your heart specialist to diagnose problems with the heart caused by congenital defects, such as leaky or narrowed heart valves, holes in the walls between chambers, or a narrowing of blood vessels.
#30 Congenital Heart Disease: Diagnosis & Treatment | NewYork-Presbyterian
https://www.nyp.org/heart/congenital-heart-disease/treatment
How is Congenital Heart Disease Diagnosed? Diagnosis Physicians use a variety of heart function and imaging tests to diagnose congenital heart disease. Severe problems in a fetal heart can be detected during pregnancy by ultrasound. Most newborns are screened for congenital heart disease with a pulse oximeter, a sensor clipped to a finger or toe that measures oxygen in the blood. […] In adults, the following diagnostic heart services help to diagnose congenital heart disease: Electrocardiogram (ECG or EKG). Small plastic patches that contain electrodes are attached to the chest, arms, and legs. The electrodes detect the electrical activity of the heart while the test is being done, and the results are recorded as line tracings on paper or a computer screen. Chest X-ray. This image shows the size and shape of the heart and lungs. Echocardiogram. A type of ultrasound scan that creates a movie showing blood flowing through the heart and its valves. Treadmill stress test. Your hearts response to exercise is monitored by ECG while you walk on a treadmill. Cardiac catheterization and angiogram. A thin, flexible tube (catheter) is threaded through blood vessels that reach the heart. The test checks blood flow and blood pressure in the hearts chambers and finds out how well the heart valves work. Catheterization is done with an angiogram, a type of X-ray that takes pictures of blood flow and ensures correct placement of the catheter. Magnetic resonance imaging (MRI). This test uses a magnetic field and radio waves to take pictures of the heart and chest. Computed tomography (CT). This scan creates three-dimensional X-ray images of the heart and lungs. Transesophageal echocardiogram (TEE). A tube with a small ultrasound camera on the end is placed in the esophagus (windpipe). The test creates an ultrasound movie of the heart, providing a clearer picture than an echocardiogram. The procedure requires sedation.
#31 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
To ensure you receive the best appropriate care, your cardiologist may recommend a series of tests to measure your heart’s function. […] Common tests for heart function include: […] 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. […] A cardiac catheterization is a procedure that allows the cardiologist to get direct information about the blood pressures and patterns of blood flow within your heart. […] 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. […] An electrophysiology study is a specialized cardiac catheterization that looks at the heart’s electrical or rhythm function instead of its blood flow.
#32 Congenital Heart Disease: Diagnosis & Treatment | NewYork-Presbyterian
https://www.nyp.org/heart/congenital-heart-disease/treatment
How is Congenital Heart Disease Diagnosed? Diagnosis Physicians use a variety of heart function and imaging tests to diagnose congenital heart disease. Severe problems in a fetal heart can be detected during pregnancy by ultrasound. Most newborns are screened for congenital heart disease with a pulse oximeter, a sensor clipped to a finger or toe that measures oxygen in the blood. […] In adults, the following diagnostic heart services help to diagnose congenital heart disease: Electrocardiogram (ECG or EKG). Small plastic patches that contain electrodes are attached to the chest, arms, and legs. The electrodes detect the electrical activity of the heart while the test is being done, and the results are recorded as line tracings on paper or a computer screen. Chest X-ray. This image shows the size and shape of the heart and lungs. Echocardiogram. A type of ultrasound scan that creates a movie showing blood flowing through the heart and its valves. Treadmill stress test. Your hearts response to exercise is monitored by ECG while you walk on a treadmill. Cardiac catheterization and angiogram. A thin, flexible tube (catheter) is threaded through blood vessels that reach the heart. The test checks blood flow and blood pressure in the hearts chambers and finds out how well the heart valves work. Catheterization is done with an angiogram, a type of X-ray that takes pictures of blood flow and ensures correct placement of the catheter. Magnetic resonance imaging (MRI). This test uses a magnetic field and radio waves to take pictures of the heart and chest. Computed tomography (CT). This scan creates three-dimensional X-ray images of the heart and lungs. Transesophageal echocardiogram (TEE). A tube with a small ultrasound camera on the end is placed in the esophagus (windpipe). The test creates an ultrasound movie of the heart, providing a clearer picture than an echocardiogram. The procedure requires sedation.
#33 Congenital heart disease in adults – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/adult-congenital-heart-disease/diagnosis-treatment/drc-20355461
Exercise stress tests. These tests often involve walking on a treadmill or riding a stationary bike while the heart activity is checked. […] Heart MRI. A heart MRI, also called a cardiac MRI, may be done to diagnose and look at congenital heart disease. […] Cardiac catheterization. In this test, a thin, flexible tube called a catheter is inserted into a blood vessel, usually in the groin area, and guided to the heart. This test can provide detailed information on blood flow and how the heart works. […] Some or all of these tests also may be done to diagnose congenital heart defects in children.
#34 Diagnosing Congenital Heart Defects in Children | NYU Langone Health
https://nyulangone.org/conditions/congenital-heart-defects-in-children/diagnosis
Specialists in our pediatric and fetal echocardiography laboratory are highly experienced in advanced cardiac imaging studies that identify pediatric heart defects. […] An echocardiogram helps to evaluate the structure and function of the heart. […] A fetal echocardiogram, performed before birth, can be used to detect heart problems as early as the 18th week of pregnancy. […] Cardiac catheterization is a minimally invasive procedure that is often used to diagnose congenital heart defects after birth. […] An electrocardiogram, sometimes called an EKG, records electrical activity in the heart. An electrocardiogram can help to identify an abnormal heart rhythm caused by a congenital heart defect. […] Holter and event monitors are portable devices used to evaluate symptoms such as dizziness, fainting, low blood pressure, chest pain, and heart palpitations. […] A stress test may be used to see how the heart of an older child or adolescent responds to exercise, such as riding a stationary bicycle or walking on a treadmill.
#35 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
To ensure you receive the best appropriate care, your cardiologist may recommend a series of tests to measure your heart’s function. […] Common tests for heart function include: […] 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. […] A cardiac catheterization is a procedure that allows the cardiologist to get direct information about the blood pressures and patterns of blood flow within your heart. […] 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. […] An electrophysiology study is a specialized cardiac catheterization that looks at the heart’s electrical or rhythm function instead of its blood flow.
#36 Diagnosing Adult Congenital Heart Disease | NYU Langone Health
https://nyulangone.org/conditions/adult-congenital-heart-disease/diagnosis
An MRI scan produces computerized, two- and three-dimensional images of the heart using a magnetic field and radio waves. […] A CT scan produces three-dimensional, cross-sectional images of the body using X-rays. […] A stress test provides information about the functioning of your heart and arteries. […] If exercise triggers rapid and irregular heart rhythms or causes unusual fatigue or shortness of breath, your doctor may perform a stress test to help assess your ability to tolerate exercise. […] Advanced cardiac ambulatory telemetry is a series of EKG tests that record the heart rhythm for a period of time, from 24 hours up to 4 weeks, if needed. […] An electrophysiological test helps your doctor determine the origin of an arrhythmia, assess the effectiveness of medication for heart rhythm disorders, or choose new treatments. […] Cardiac catheterization allows your heart specialist to diagnose problems with the heart caused by congenital defects, such as leaky or narrowed heart valves, holes in the walls between chambers, or a narrowing of blood vessels.
#37 Diagnosing Congenital Heart Defects in Children | NYU Langone Health
https://nyulangone.org/conditions/congenital-heart-defects-in-children/diagnosis
Specialists in our pediatric and fetal echocardiography laboratory are highly experienced in advanced cardiac imaging studies that identify pediatric heart defects. […] An echocardiogram helps to evaluate the structure and function of the heart. […] A fetal echocardiogram, performed before birth, can be used to detect heart problems as early as the 18th week of pregnancy. […] Cardiac catheterization is a minimally invasive procedure that is often used to diagnose congenital heart defects after birth. […] An electrocardiogram, sometimes called an EKG, records electrical activity in the heart. An electrocardiogram can help to identify an abnormal heart rhythm caused by a congenital heart defect. […] Holter and event monitors are portable devices used to evaluate symptoms such as dizziness, fainting, low blood pressure, chest pain, and heart palpitations. […] A stress test may be used to see how the heart of an older child or adolescent responds to exercise, such as riding a stationary bicycle or walking on a treadmill.
#38 Diagnosing Adult Congenital Heart Disease | NYU Langone Health
https://nyulangone.org/conditions/adult-congenital-heart-disease/diagnosis
There are an estimated 1 million adults living with congenital heart disease in the United States. […] Sometimes, however, heart defects do not cause symptoms in infancy or childhood and are not detected until adolescence or early adulthood. […] At NYU Langone, children diagnosed with congenital heart disease are monitored by a heart specialist into adulthood. […] He or she typically uses various tests to determine how to best manage the condition. These tests can also be used to diagnose congenital heart disease in adults who were not diagnosed as children. […] An electrocardiogram, or EKG, measures the hearts electrical activity. […] An echocardiogram is an ultrasound test that uses high-frequency sound waves to produce detailed images of the heart. […] In a transesophageal echocardiogram, a technician or your doctor inserts an ultrasound probe through the mouth and into the esophagus.
#39 Adult Congenital Heart Diagnostics
https://www.froedtert.com/adult-congenital-heart-disease/advanced-diagnostics
Although usually diagnosed at birth, some cases of congenital heart disease may not be detected until later in childhood or even adulthood. […] There are more than 30 types of congenital heart defects, so diagnosing the condition takes specialized expertise like that found at an academic medical center. […] As one of only a few adult congenital heart disease programs in the country, we have the experience and state-of-the-art diagnostics to identify and treat the entire spectrum of congenital heart defects in adults. […] Tests frequently used to diagnose adult congenital heart defects include: […] Cardiac catheterization […] Cardiac nuclear medicine imaging […] Diagnostic CT angiography (CTA) […] Echocardiography […] Electrocardiography […] Electrophysiology […] Exercise stress testing […] Magnetic resonance imaging (MRI).
#40 Adult Congenital Heart Disease: Symptoms & Treatment
https://my.clevelandclinic.org/health/diseases/16891-heart-disease-adult-congenital-heart-disease
Adult congenital heart disease (ACHD) is a term for conditions that affect your hearts structure. These heart defects impact blood flow. […] Advances in diagnosis and treatment have improved outcomes for people with ACHD. More than 90% of people with ACHD treated as children live into adulthood. Whether your ACHD diagnosis happens when youre a child or an adult, youll still need lifelong medical care to help monitor your condition. […] Your healthcare provider will first ask about your symptoms and medical history. They will do a physical exam and listen to your heart with a stethoscope. […] ACHD treatment depends on the type and severity of the condition and may include: […] Your provider can treat ACHD with medications, implantable devices and surgery. If you have mild ACHD, you may not need treatment. Regardless of the severity, you should see a cardiologist for regular checkups. Many people with ACHD lead full, active lives.
#41 Adult Congenital Heart Disease: Symptoms & Treatment
https://my.clevelandclinic.org/health/diseases/16891-heart-disease-adult-congenital-heart-disease
Adult congenital heart disease (ACHD) is a term for conditions that affect your hearts structure. These heart defects impact blood flow. […] Advances in diagnosis and treatment have improved outcomes for people with ACHD. More than 90% of people with ACHD treated as children live into adulthood. Whether your ACHD diagnosis happens when youre a child or an adult, youll still need lifelong medical care to help monitor your condition. […] Your healthcare provider will first ask about your symptoms and medical history. They will do a physical exam and listen to your heart with a stethoscope. […] ACHD treatment depends on the type and severity of the condition and may include: […] Your provider can treat ACHD with medications, implantable devices and surgery. If you have mild ACHD, you may not need treatment. Regardless of the severity, you should see a cardiologist for regular checkups. Many people with ACHD lead full, active lives.
#42 Adult Congenital Heart Disease | Mass General Brigham
https://www.massgeneralbrigham.org/en/patient-care/services-and-specialties/heart/conditions/adult-congenital-heart-disease
Adult congenital heart disease, or ACHD for short, is a broad term applied to problems with the heart structure present since birth. […] Congenital heart disease can be diagnosed in both children and adults. Diagnosis can be made before or after birth or even into adulthood. […] Request an appointment with the heart specialists at Mass General Brigham and learn more about diagnosis and management of adult congenital heart disease. […] How is adult congenital heart disease diagnosed? […] A variety of tools can help determine the presence of a congenital heart defect. Some of the tests are the same for children and adults. Tests can include stress tests while walking on a treadmill or riding a bike. […] Imaging tests can include a positron emission tomography (PET) scan, chest X-ray, electrocardiogram (EKG or ECG), or an echocardiogram (an ultrasound of the heart).
#43 Adult Congenital Heart Disease | Mass General Brigham
https://www.massgeneralbrigham.org/en/patient-care/services-and-specialties/heart/conditions/adult-congenital-heart-disease
Adult congenital heart disease, or ACHD for short, is a broad term applied to problems with the heart structure present since birth. […] Congenital heart disease can be diagnosed in both children and adults. Diagnosis can be made before or after birth or even into adulthood. […] Request an appointment with the heart specialists at Mass General Brigham and learn more about diagnosis and management of adult congenital heart disease. […] How is adult congenital heart disease diagnosed? […] A variety of tools can help determine the presence of a congenital heart defect. Some of the tests are the same for children and adults. Tests can include stress tests while walking on a treadmill or riding a bike. […] Imaging tests can include a positron emission tomography (PET) scan, chest X-ray, electrocardiogram (EKG or ECG), or an echocardiogram (an ultrasound of the heart).
#44 Adult Congenital Heart Disease | Mass General Brigham
https://www.massgeneralbrigham.org/en/patient-care/services-and-specialties/heart/conditions/adult-congenital-heart-disease
In other cases, a magnetic resonance imaging (MRI) or heart computed tomography (CT) scan may be needed for more detailed images of the heart. […] Cardiac catheterization is another possible test involving injecting dye into a catheter inserted into a blood vessel. Several heart functions can be examined once the catheter is in place.
#45 Adult Congenital Heart Disease: Symptoms & Treatment
https://my.clevelandclinic.org/health/diseases/16891-heart-disease-adult-congenital-heart-disease
Adult congenital heart disease (ACHD) is a term for conditions that affect your hearts structure. These heart defects impact blood flow. […] Advances in diagnosis and treatment have improved outcomes for people with ACHD. More than 90% of people with ACHD treated as children live into adulthood. Whether your ACHD diagnosis happens when youre a child or an adult, youll still need lifelong medical care to help monitor your condition. […] Your healthcare provider will first ask about your symptoms and medical history. They will do a physical exam and listen to your heart with a stethoscope. […] ACHD treatment depends on the type and severity of the condition and may include: […] Your provider can treat ACHD with medications, implantable devices and surgery. If you have mild ACHD, you may not need treatment. Regardless of the severity, you should see a cardiologist for regular checkups. Many people with ACHD lead full, active lives.
#46 Congenital Heart Disease
https://www.uvmhealth.org/medcenter/conditions-and-treatments/congenital-heart-disease
Many adults think that if their congenital heart disease was treated when they were a child or an infant, they are cured. However, lifelong follow-up care is important. […] Treatment options for congenital heart disease at The UVM Medical Center include both non-surgical and surgical treatments. […] The adult congenital heart disease clinic at our Tilley Drive, South Burlington, Vermont location will have experts that direct the non-invasive care of your heart disease. […] The UVM Medical Center is the only cardiac surgery program in the state of Vermont. Our interventional cardiologists and cardiac surgeons provide the latest treatments and therapies to repair your congenital heart defect and restore normal blood flow. […] Some patients with congenital heart defects may require open-heart surgery. An experienced cardiac surgeon opens the chest cavity to gain access to the heart and works directly with the muscle and valves. […] The UVM Medical Center’s interventional cardiologists perform almost 5,000 catheter-based procedures every year, including procedures to help pediatric and adult patients with congenital heart disease.
#47 Diagnostics | Special Issue : Diagnosis and Management of Congenital Heart Disease
https://www.mdpi.com/journal/diagnostics/special_issues/heart_diagnosis
In patients with congenital heart disease, diagnostic approaches remain the first stage in the appropriate treatment of these patients, which promotes successful outcomes. The detailed preoperative assessment of complex congenital heart disease contributes to the application of appropriate treatments. Novel diagnostic approaches such as 3D echocardiography, cardiac computed tomography, 4D magnetic resonance imaging and 3D reconstruction images offer additional information about complex congenital heart defects. […] On the other hand, the outcomes after treating patients with congenital heart diseases depend on many factors. Cardiac intensive care units play crucial roles in the management of critically ill newborns, neonates and children after invasive procedures or cardiac surgery operations, as well as in the management of adults with congenital heart disease. Complex cardiac invasive procedures and complex cardiac surgery require advanced knowledge. In addition to the use of imaging diagnostic approaches in patients with congenital heart disease, many biomarkers have been proposed for the monitoring and prediction of adverse events before, during and after treatment. […] The scope of this Special Issue is present current knowledge concerning the diagnosis and management of patients with congenital heart defects from the neonatal period to adulthood.
#48 Improving the diagnosis and treatment of congenital heart disease through the combination of three-dimensional echocardiography and image guided surgery | BMC Medical Imaging | Full Text
https://bmcmedimaging.biomedcentral.com/articles/10.1186/s12880-024-01235-2
The paper aimed to improve the accuracy limitations of traditional two-dimensional ultrasound and surgical procedures in the diagnosis and management of congenital heart disease (chd), and to improve the diagnostic and therapeutic level of chd. […] The combination of three-dimensional echocardiography and image guided surgery can improve diagnostic accuracy and surgical treatment effectiveness, thereby reducing risks and complications, and improving surgical success rate. […] The combination of three-dimensional echocardiography and image guided surgery can more accurately diagnose CHD, and improve the success rate and efficacy of surgery. […] Three-dimensional echocardiography can help doctors diagnose more accurately and provide better treatment plans. […] For complex CHD, traditional two-dimensional echocardiography often cannot comprehensively evaluate the complex structure of the heart, while three-dimensional echocardiography can provide more accurate anatomical and functional information of the heart, helping doctors better understand and diagnose these complex lesions.
#49 Diagnostics | Special Issue : Diagnosis and Management of Congenital Heart Disease
https://www.mdpi.com/journal/diagnostics/special_issues/heart_diagnosis
In patients with congenital heart disease, diagnostic approaches remain the first stage in the appropriate treatment of these patients, which promotes successful outcomes. The detailed preoperative assessment of complex congenital heart disease contributes to the application of appropriate treatments. Novel diagnostic approaches such as 3D echocardiography, cardiac computed tomography, 4D magnetic resonance imaging and 3D reconstruction images offer additional information about complex congenital heart defects. […] On the other hand, the outcomes after treating patients with congenital heart diseases depend on many factors. Cardiac intensive care units play crucial roles in the management of critically ill newborns, neonates and children after invasive procedures or cardiac surgery operations, as well as in the management of adults with congenital heart disease. Complex cardiac invasive procedures and complex cardiac surgery require advanced knowledge. In addition to the use of imaging diagnostic approaches in patients with congenital heart disease, many biomarkers have been proposed for the monitoring and prediction of adverse events before, during and after treatment. […] The scope of this Special Issue is present current knowledge concerning the diagnosis and management of patients with congenital heart defects from the neonatal period to adulthood.
#50 Diagnostics | Special Issue : Diagnosis and Management of Congenital Heart Disease
https://www.mdpi.com/journal/diagnostics/special_issues/heart_diagnosis
In patients with congenital heart disease, diagnostic approaches remain the first stage in the appropriate treatment of these patients, which promotes successful outcomes. The detailed preoperative assessment of complex congenital heart disease contributes to the application of appropriate treatments. Novel diagnostic approaches such as 3D echocardiography, cardiac computed tomography, 4D magnetic resonance imaging and 3D reconstruction images offer additional information about complex congenital heart defects. […] On the other hand, the outcomes after treating patients with congenital heart diseases depend on many factors. Cardiac intensive care units play crucial roles in the management of critically ill newborns, neonates and children after invasive procedures or cardiac surgery operations, as well as in the management of adults with congenital heart disease. Complex cardiac invasive procedures and complex cardiac surgery require advanced knowledge. In addition to the use of imaging diagnostic approaches in patients with congenital heart disease, many biomarkers have been proposed for the monitoring and prediction of adverse events before, during and after treatment. […] The scope of this Special Issue is present current knowledge concerning the diagnosis and management of patients with congenital heart defects from the neonatal period to adulthood.
#51 Diagnosing Congenital Heart Defects (CHDs) | Banner Health
https://www.bannerhealth.com/services/heart/heart-disease/congenital-heart-defects/diagnosis
A CT scan uses X-rays to take detailed pictures of the heart and blood vessels. It provides more information about the hearts structure and function. This test is useful for diagnosing complex heart defects. […] Health care specialists can use 3D printing to help diagnose and treat heart problems. This technology lets you and your family hold a physical model of the heart. The model is made from a CT or MRI scan. It helps specialists understand the heart condition better and decide the best treatment. […] Once a heart defect is diagnosed, your health care provider will discuss the findings with you. They will explain the type of defect, its severity and the possible treatments. […] Treatments for CHDs can vary, depending on the type of defect and overall health. Some common treatments include:
#52 Diagnosing Congenital Heart Defects (CHDs) | Banner Health
https://www.bannerhealth.com/services/heart/heart-disease/congenital-heart-defects/diagnosis
A CT scan uses X-rays to take detailed pictures of the heart and blood vessels. It provides more information about the hearts structure and function. This test is useful for diagnosing complex heart defects. […] Health care specialists can use 3D printing to help diagnose and treat heart problems. This technology lets you and your family hold a physical model of the heart. The model is made from a CT or MRI scan. It helps specialists understand the heart condition better and decide the best treatment. […] Once a heart defect is diagnosed, your health care provider will discuss the findings with you. They will explain the type of defect, its severity and the possible treatments. […] Treatments for CHDs can vary, depending on the type of defect and overall health. Some common treatments include:
#53 Evaluation of suspected critical congenital heart disease (CHD) in the newborn – UpToDate
https://www.uptodate.com/contents/evaluation-of-suspected-critical-congenital-heart-disease-chd-in-the-newborn
Evaluation of suspected critical congenital heart disease (CHD) in the newborn. Congenital heart disease (CHD) is the most common type of congenital anomaly. Critical CHD, defined as lesions requiring surgery or catheter-based intervention in the first year of life, accounts for approximately 25 percent of CHD. Many newborns with critical CHD are diagnosed prenatally or are identified soon after birth (eg, due to symptoms or positive pulse oximetry screening). However, some affected infants are not diagnosed until after discharge from the birth hospitalization. For newborns with critical CHD, the risk of morbidity and mortality increases when there is a delay in diagnosis and timely referral to a tertiary center with expertise in treating these patients. The clinical presentation and initial diagnostic evaluation of suspected critical CHD in the newborn will be reviewed here. Diagnostic approach includes history, physical examination, upper and lower extremity blood pressure, pulse oximetry, electrocardiogram, chest radiograph, echocardiography, and hyperoxia test.
#54 Evaluation of suspected critical congenital heart disease (CHD) in the newborn – UpToDate
https://www.uptodate.com/contents/evaluation-of-suspected-critical-congenital-heart-disease-chd-in-the-newborn
Evaluation of suspected critical congenital heart disease (CHD) in the newborn. Congenital heart disease (CHD) is the most common type of congenital anomaly. Critical CHD, defined as lesions requiring surgery or catheter-based intervention in the first year of life, accounts for approximately 25 percent of CHD. Many newborns with critical CHD are diagnosed prenatally or are identified soon after birth (eg, due to symptoms or positive pulse oximetry screening). However, some affected infants are not diagnosed until after discharge from the birth hospitalization. For newborns with critical CHD, the risk of morbidity and mortality increases when there is a delay in diagnosis and timely referral to a tertiary center with expertise in treating these patients. The clinical presentation and initial diagnostic evaluation of suspected critical CHD in the newborn will be reviewed here. Diagnostic approach includes history, physical examination, upper and lower extremity blood pressure, pulse oximetry, electrocardiogram, chest radiograph, echocardiography, and hyperoxia test.
#55 Clinical Screening and Diagnosis for Critical Congenital Heart Defects | Congenital Heart Defects (CHDs) | CDC
https://www.cdc.gov/heart-defects/hcp/screening/index.html
Screening for critical congenital heart defects (CCHDs) can help identify some babies with a CCHD before they go home from the birth hospital. […] Screening allows babies to be treated early and may prevent disability or death early in life. […] Newborn screening may identify critical congenital heart defects (CCHDs) before signs are evident. Identifying newborns with these conditions before hospital discharge can help ensure they receive prompt care and treatment. Timely care may prevent disability or death early in life. […] Mandated CCHD screening using pulse oximetry reduces early infant deaths from CCHD by 33%, or 120 early infant deaths from CCHD averted per year. […] Pulse oximetry screening should not replace taking a complete family health history, pregnancy history, or physical examination. These exams may detect CCHDs before the development of low oxygen levels (hypoxemia) in the blood.
#56 Clinical Screening and Diagnosis for Critical Congenital Heart Defects | Congenital Heart Defects (CHDs) | CDC
https://www.cdc.gov/heart-defects/hcp/screening/index.html
Screening for critical congenital heart defects (CCHDs) can help identify some babies with a CCHD before they go home from the birth hospital. […] Screening allows babies to be treated early and may prevent disability or death early in life. […] Newborn screening may identify critical congenital heart defects (CCHDs) before signs are evident. Identifying newborns with these conditions before hospital discharge can help ensure they receive prompt care and treatment. Timely care may prevent disability or death early in life. […] Mandated CCHD screening using pulse oximetry reduces early infant deaths from CCHD by 33%, or 120 early infant deaths from CCHD averted per year. […] Pulse oximetry screening should not replace taking a complete family health history, pregnancy history, or physical examination. These exams may detect CCHDs before the development of low oxygen levels (hypoxemia) in the blood.
#57 Clinical Screening and Diagnosis for Critical Congenital Heart Defects | Congenital Heart Defects (CHDs) | CDC
https://www.cdc.gov/heart-defects/hcp/screening/index.html
Screening with pulse oximetry identifies several types of CCHDs, the most common are below. […] Screening with pulse oximetry can identify a number of types of CCHDs, the most common of which are shown below. […] A screen is considered failed if at least one of these occur: Any oxygen (O2) saturation measure is 90% in either the right hand or foot (initial screen/repeat screen). […] Any infant who fails the screen should have an evaluation for causes of hypoxemia. In most cases this will include an echocardiogram. […] Pulse oximetry screening does not detect all CCHDs. Therefore, it is possible for a baby with a passing screening result to still have a CCHD or other congenital heart defect.
#58 Clinical Screening and Diagnosis for Critical Congenital Heart Defects | Congenital Heart Defects (CHDs) | CDC
https://www.cdc.gov/heart-defects/hcp/screening/index.html
Screening for critical congenital heart defects (CCHDs) can help identify some babies with a CCHD before they go home from the birth hospital. […] Screening allows babies to be treated early and may prevent disability or death early in life. […] Newborn screening may identify critical congenital heart defects (CCHDs) before signs are evident. Identifying newborns with these conditions before hospital discharge can help ensure they receive prompt care and treatment. Timely care may prevent disability or death early in life. […] Mandated CCHD screening using pulse oximetry reduces early infant deaths from CCHD by 33%, or 120 early infant deaths from CCHD averted per year. […] Pulse oximetry screening should not replace taking a complete family health history, pregnancy history, or physical examination. These exams may detect CCHDs before the development of low oxygen levels (hypoxemia) in the blood.
#59 Clinical Screening and Diagnosis for Critical Congenital Heart Defects | Congenital Heart Defects (CHDs) | CDC
https://www.cdc.gov/heart-defects/hcp/screening/index.html
Screening for critical congenital heart defects (CCHDs) can help identify some babies with a CCHD before they go home from the birth hospital. […] Screening allows babies to be treated early and may prevent disability or death early in life. […] Newborn screening may identify critical congenital heart defects (CCHDs) before signs are evident. Identifying newborns with these conditions before hospital discharge can help ensure they receive prompt care and treatment. Timely care may prevent disability or death early in life. […] Mandated CCHD screening using pulse oximetry reduces early infant deaths from CCHD by 33%, or 120 early infant deaths from CCHD averted per year. […] Pulse oximetry screening should not replace taking a complete family health history, pregnancy history, or physical examination. These exams may detect CCHDs before the development of low oxygen levels (hypoxemia) in the blood.
#60 Clinical Screening and Diagnosis for Critical Congenital Heart Defects | Congenital Heart Defects (CHDs) | CDC
https://www.cdc.gov/heart-defects/hcp/screening/index.html
Screening with pulse oximetry identifies several types of CCHDs, the most common are below. […] Screening with pulse oximetry can identify a number of types of CCHDs, the most common of which are shown below. […] A screen is considered failed if at least one of these occur: Any oxygen (O2) saturation measure is 90% in either the right hand or foot (initial screen/repeat screen). […] Any infant who fails the screen should have an evaluation for causes of hypoxemia. In most cases this will include an echocardiogram. […] Pulse oximetry screening does not detect all CCHDs. Therefore, it is possible for a baby with a passing screening result to still have a CCHD or other congenital heart defect.
#61 Life with congenital heart disease: diagnosis and treatment
https://www.centrecardiolaval.com/en/2023/09/14/life-with-congenital-heart-disease-origins-diagnoses-and-treatments/
Congenital heart disease, a malformation of the heart present from birth, affects a significant proportion of newborns, and raises many questions about its origins, symptoms and available treatments. […] Advances in modern medicine have greatly improved the management of congenital heart disease. […] Today, thanks to advanced prenatal diagnosis techniques, many of them can be detected even before the child is born, enabling better preparation for possible surgery or appropriate treatment. […] Diagnosis of congenital heart disease is crucial to ensure rapid and effective management. […] Early identification can, in many cases, make all the difference to an individual’s prognosis and quality of life. […] Early detection and diagnosis of congenital heart disease are essential to ensure proper management.
#62 Prenatal Diagnosis of Congenital Heart Disease: Can We Make a Difference? – UCSF Pediatrics
https://medconnection.ucsfbenioffchildrens.org/videos/prenatal-diagnosis-of-congenital-heart-disease-can-we-make-a-difference
So where are we in 2018 2019. Now we know that prenatal diagnosis decreases the need for transport intubation PG results in a better candidate for surgery. […] Prenatal diagnosis and maternal stress is something that that is also very, I think, interesting to our group because as you can imagine, you’re 20 weeks pregnant, you go in to find out if your baby is a boy or a girl and they tell you that the baby has a serious, life threatening heart condition, that’s going to require neonatal surgery. […] Prenatal diagnosis also gives us the opportunity to um to mitigate short term morbidity is for these patients. […] We also do medical perinatal management. […] The options um are the sort of the, yeah the the options for where to deliver the baby um have been pretty well worked out in these risk stratification schemes.
#63 Prenatal diagnosis of congenital heart defects: echocardiography – Sun – Translational Pediatrics
https://tp.amegroups.org/article/view/51833/html
The optimal timing for screening fetal echocardiography is typically between 18-22 weeks gestation. […] Fetal echocardiography should be performed as soon as possible following abnormal findings on obstetric ultrasound. […] The prenatal diagnosis of CHD should prompt a thorough evaluation for extracardiac anomalies or genetic syndrome in the fetus. […] Fetal cardiac intervention in a small subset of fetuses with CHD may be considered in an effort to alter natural in utero course, increase postnatal treatment options, and improve long-term outcomes. […] Fetal echocardiography can guide delivery planning, as infants with critical CHD can have significant cyanosis, hypoxemia, and/or cardiogenic shock leading to morbidity/mortality after birth if not expeditiously treated. […] Prenatal detection improves pre-operative morbidity, mortality, and outcomes in certain types of CHD, such as d-TGA and HLHS.
#64 Prenatal Diagnosis of Congenital Heart Disease: Can We Make a Difference? – UCSF Pediatrics
https://medconnection.ucsfbenioffchildrens.org/videos/prenatal-diagnosis-of-congenital-heart-disease-can-we-make-a-difference
This is a worldwide problem affects everyone no matter what race color, educational status. […] So these three broad categories um I think really highlight what it is that we can do. […] So how are we doing? Well, the answer is not too well. […] The answer, of course, is no. […] If we look at just a beating four chamber of the, of the fetal heart, you probably have seen this if you’ve had an ultrasound or you’re Uh your daughter’s daughter in laws or friends partners have had ultrasounds. […] Is there evidence that this does make a difference? […] This was the first paper that really uh convincingly showed that there was a difference in survival if a baby with hypoplastic left heart syndrome was born uh with a prenatal diagnosis in a controlled setting in a tertiary care center versus was born outside the tertiary center and waited until they presented with either a murmur or shock or something else and had to be transported in.
#65 Prenatal diagnosis of congenital heart defects: echocardiography – Sun – Translational Pediatrics
https://tp.amegroups.org/article/view/51833/html
However, most CHD occurs in low risk pregnancies without maternal or fetal risk factors, and therefore most referrals for fetal echocardiography and subsequent prenatal diagnosis of CHD rely solely on detection of a cardiac anomaly on screening obstetric ultrasound. […] Despite advances in fetal cardiac imaging, prenatal detection rates of CHD remain highly variable. […] To optimize prenatal detection of CHD, sonographers and practitioners who perform fetal anatomic screening ultrasounds must be, at a minimum, comfortable with assessing the four-chamber and ventricular outflow tract views in accordance with the recommended guidelines. […] Fetal echocardiography should be performed by trained and skilled sonographers and physicians who have a detailed understanding of normal and abnormal fetal cardiac anatomy and physiology.
#66 Delayed diagnosis in children with congenital heart disease: a mixed-method study | BMC Pediatrics | Full Text
https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-021-02667-3
Delayed diagnosis of congenital heart disease (CHD) causes significant morbidity and mortality. We aimed to determine the proportion of delayed diagnosis of CHD and factors related to the delayed diagnosis. […] Delayed diagnosis of CHD causes significant morbidity and mortality. […] Proper diagnosis of CHD is defined when the patient does not need emergency management at the onset of diagnosis, when treatment does not carry high risk, when there is no need for different management, or when the patient has better outcome if treated earlier. […] Delayed diagnosis in congenital heart disease is prevalent globally both in high-income and low- and middle-income countries. […] Factors contributing to delayed diagnosis in CHD are inadequately trained health system and socioeconomic constraints among those in low- and middle-income country setting.
#67 Delayed diagnosis in children with congenital heart disease: a mixed-method study | BMC Pediatrics | Full Text
https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-021-02667-3
Our study found six in ten children with CHD had delayed diagnosis. Delayed diagnosis by doctor, delays related to midwifery care, financial factors, delays in referral/follow-up, and social factors were the reasons for the delayed CHD diagnosis. Children with cyanotic CHD, residence outside the city, non-syndromic, low family income, normal labour and at term gestation at birth were independent factors associated with the delay diagnosis.
#68 Congenital Heart Disease: Symptoms & Treatment
https://my.clevelandclinic.org/health/diseases/21674-congenital-heart-disease
Congenital heart disease (CHD) is a problem with how your heart forms before birth. […] Healthcare providers can detect heart defects early (before or shortly after birth). But sometimes, people dont get a CHD diagnosis until childhood, adolescence or adulthood. […] Sometimes a healthcare provider finds a congenital condition before a baby is born. If your provider finds anything unusual during a routine prenatal ultrasound, you and the fetus may need further testing. […] Providers detect other heart issues soon after a baby is born. For example, they can diagnose cyanotic CHD with pulse oximetry. The simple, painless test uses sensors on your babys fingers or toes to find out if oxygen levels are too low. Sometimes, people dont get a congenital heart defect diagnosis until later in life.
#69 Congenital heart disease diagnosis – wikidoc
https://www.wikidoc.org/index.php/Congenital_heart_disease_diagnosis
Diagnosis of a congenital heart disease may occur at any time during a patient’s life. The majority of diagnoses are made during childhood, however, some patients can go undetected until adulthood. […] Although the majority of congenital heart disease diagnoses are made in childhood, there are significant congenital heart defects which may be go undetected until adulthood. These typically include defects that do not cause cyanosis („blueness”) in childhood but may cause problems over time, such as certain kinds of valve problems, transposition disorders, holes in the heart, and abnormalities of the heart’s major veins and arteries. Congenital heart defects are most commonly diagnosed through an echocardiogram – an ultrasound of the heart which shows the heart’s structure. Cardiac magnetic resonance (MRI) are used to confirm CHD when signs or symptoms occur in the physical examination. An echocardiograph displays images of the might also be used to confirm the problem, particularly in complex defects in which anatomy is hard to determine with echocardiography. It also finds abnormal rhythms or defects of the heart present with CHD. A chest x-ray may also be issued to look at the anatomical position of the heart and lungs. A cat scan (CT) can also be used to visualize CHD. All of these tests are ways to diagnose CHD by a physician.
#70 Congenital heart defects: Diagnosis and treatment
https://www.nature.com/collections/bcefdjjeji
Congenital heart defects (CHDs) are structural abnormalities of the heart that are present at birth and are the most common type of birth defect. […] While many CHDs are detected through a routine prenatal ultrasound, confirmation of diagnosis may require a more detailed fetal echocardiogram and additional imaging and assessment using techniques such as Transthoracic Echocardiography and MRI to study the heart’s structure and function. […] Advances in prenatal screening and diagnostic imaging have significantly enhanced our ability to detect and treat these conditions effectively and their early detection and management has led to improved patient outcomes.
#71 Early Diagnosis of Congenital Heart Disease in the Neonatal Period | IntechOpen
https://www.intechopen.com/chapters/17995
Congenital heart disease (CHD) is present in 40-60% of children with Down syndrome (DS) and it is the principal variable that determines the morbimortality during the first two years of life of these patients. […] Advances in fetal echocardiography are providing highly accurate diagnoses of congenital heart disease prior to delivery, making it possible to plan the delivery-room management of these newborns. […] Echocardiographic examination provides extensive anatomic and hemodynamic information noninvasively, in real time, and at relatively low cost. A routine echocardiography should be performed in this population in the neonatal period. […] Because of the high incidence of a significant CHD in children with DS, the early recognition of CHD can lead to the optimal management of the defect and emphasizes the importance of an early echocardiography of neonates with DS.
#72 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
To ensure you receive the best appropriate care, your cardiologist may recommend a series of tests to measure your heart’s function. […] Common tests for heart function include: […] 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. […] A cardiac catheterization is a procedure that allows the cardiologist to get direct information about the blood pressures and patterns of blood flow within your heart. […] 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. […] An electrophysiology study is a specialized cardiac catheterization that looks at the heart’s electrical or rhythm function instead of its blood flow.
#73 Congenital Heart Disease: Symptoms & Treatment
https://my.clevelandclinic.org/health/diseases/21674-congenital-heart-disease
Tests that can help diagnose CHD in newborns, children or adults include: Physical exam: During an exam, a healthcare provider will listen to your heart for any abnormal sounds. […] Congenital heart disease treatment may involve: A catheter procedure to place a plug into a defect. […] Some cases of CHD may not need any treatment. Others are life-threatening and need treatment soon after birth. […] The outlook for people with congenital heart disease depends on the type of issue and its severity. Although serious cases can be life-threatening, many people with CHD live long, relatively normal and fulfilling lives. […] Advances in diagnosis and treatment now help about 90% survive.