Defekt przegrody międzyprzedsionkowej
Etiologia i przyczyny
Defekt przegrody międzyprzedsionkowej (ASD) to jedna z najczęstszych wrodzonych wad serca, występująca z częstością 1-2 na 1000 żywych urodzeń i stanowiąca 10-15% wszystkich wrodzonych wad serca. ASD powstaje w wyniku nieprawidłowego zamknięcia otworów w przegrodzie międzyprzedsionkowej w okresie do 8 tygodnia życia płodowego. Wyróżnia się kilka typów ASD, z których najczęstszy to ostium secundum (około 2/3 przypadków). Etiologia ASD jest wieloczynnikowa, obejmująca mutacje genów takich jak GATA4, NKX2-5, TBX5 oraz mutacje związane z zespołami genetycznymi (np. zespół Downa, Holta-Orama, Noonana). Czynniki środowiskowe w ciąży, takie jak zakażenie różyczką, cukrzyca, alkohol, tytoń, narkotyki, leki oraz ekspozycja na promieniowanie, również zwiększają ryzyko rozwoju ASD. Występuje wyraźna przewaga kobiet nad mężczyznami (stosunek 1:2), szczególnie w ASD typu ostium secundum.
Przyczyny defektu przegrody międzyprzedsionkowej
Defekt przegrody międzyprzedsionkowej (ASD) to wrodzona wada serca polegająca na obecności nieprawidłowego otworu w przegrodzie dzielącej dwa górne przedsionki serca. Jest to jedna z najczęstszych wrodzonych wad serca, stanowiąca około 10-15% wszystkich wrodzonych wad serca, z częstością występowania 1-2 na 1000 żywych urodzeń.123 W większości przypadków dokładna przyczyna ASD pozostaje nieznana, jednak istnieje kilka czynników, które mogą przyczynić się do rozwoju tej wady.
Rozwój embriologiczny i patofizjologia
ASD powstaje we wczesnym okresie rozwoju płodu, zazwyczaj w ciągu pierwszych 8 tygodni ciąży, kiedy formuje się serce. Serce rozwija się początkowo jako rurka, która następnie dzieli się na cztery komory. Te komory są oddzielone ścianami (przegrodami). Podczas rozwoju płodu występowanie otworów w przegrodach jest prawidłowe, ale powinny one zamknąć się krótko przed narodzinami lub zaraz po nich. Jeśli ten proces nie przebiega prawidłowo, przegroda międzyprzedsionkowa pozostaje niecałkowicie uformowana, co skutkuje obecnością otworu lub ASD.12
Defekty przegrody międzyprzedsionkowej powstają w wyniku nieprawidłowości w procesie podziału serca. Istnieje kilka typów ASD, które różnią się etiologią i lokalizacją:12
- ASD typu ostium secundum – najczęstszy typ, stanowiący około 2/3 przypadków, powstaje, gdy część przegrody międzyprzedsionkowej (septum secundum) nie zamyka się całkowicie podczas rozwoju serca
- ASD typu ostium primum – spowodowany niecałkowitym połączeniem septum primum z kanałem przedsionkowo-komorowym, często towarzyszy mu wada zastawki mitralnej
- ASD typu sinus venosus – spowodowany nieprawidłowym połączeniem zatok żylnych z przedsionkiem, związany z nieprawidłowym spływem żył płucnych
- ASD typu zatoki wieńcowej – najrzadszy typ, charakteryzujący się ubytkiem w ścianie zatoki wieńcowej i przetrwałą lewą żyłą główną górną, która uchodzi do lewego przedsionka
- Przetrwały otwór owalny (PFO) – wynik niecałkowitego zamknięcia połączenia klapkowego między septum primum a septum secundum
Czynniki genetyczne
Chociaż większość przypadków ASD występuje sporadycznie (przypadkowo), czynniki genetyczne mogą odgrywać znaczącą rolę w etiologii tej wady.12 ASD może występować jako izolowana wada lub w połączeniu z innymi wadami serca. Badania wykazały, że ASD może być dziedziczone w sposób autosomalny dominujący, szczególnie gdy towarzyszy mu wydłużenie przewodzenia przedsionkowo-komorowego (wydłużony odstęp PR w EKG).1
Kluczowe czynniki transkrypcyjne związane z formowaniem przegrody międzyprzedsionkowej obejmują:1
- GATA4 – mutacje tego genu związane są z ASD i innymi wadami serca
- NKX2-5/CSX – mutacje tego genu związane są z wrodzonymi wadami serca, takimi jak ASD i tetralogia Fallota, a także z blokami przedsionkowo-komorowymi i nagłą śmiercią sercową u młodych osób
- TBX5 – mutacje związane z zespołem Holta-Orama, w którym występują wady serca (w tym ASD) i wady kończyn górnych
Zidentyfikowano również mutację genu PTPN11 u pacjentów z zespołem Noonana, u których wady serca występują w 85% przypadków. Najczęstszymi wadami są ASD typu ostium secundum i stenoza zastawki płucnej, które były znacząco związane z tą mutacją genetyczną.1
Syndromy i zaburzenia genetyczne
ASD często występuje w połączeniu z różnymi zespołami genetycznymi, co potwierdza genetyczne podłoże tej wady w wielu przypadkach. Zespoły te obejmują:12
- Zespół Downa (trisomia 21) – około 50% pacjentów ma wrodzone wady serca, w tym ASD
- Zespół Holta-Orama – dziedziczony autosomalnie dominująco, powodowany mutacjami genu T-box-5 (TBX5), które uniemożliwiają prawidłowy rozwój kończyn górnych i serca
- Zespół Ellisa-van Crevelda (chondroecterdermal dysplasia) – 50% ma mutacje w genach EVC lub EVC2, dziedziczenie autosomalne recesywne
- Zespół Williamsa – również związany z ASD
- Trisomia 13 i 18 – związane z występowaniem ASD
Wśród krewnych pierwszego stopnia obserwuje się 2-3-krotnie wyższą częstość występowania ASD typu ostium secundum niż w populacji ogólnej, co sugeruje genetyczne podłoże tej wady.1 Około 10% wrodzonych wad serca jest spowodowanych specyficznymi nieprawidłowościami genetycznymi.1
Czynniki środowiskowe i matczyne
Oprócz czynników genetycznych, ekspozycja na określone czynniki środowiskowe podczas ciąży może zwiększać ryzyko rozwoju ASD u płodu.1 Do tych czynników należą:
- Zakażenie różyczką (rubella) – szczególnie w pierwszych miesiącach ciąży
- Cukrzyca – matczyna cukrzyca lub podwyższony poziom glukozy we krwi w czasie ciąży
- Alkohol – około 25% pacjentów urodzonych z płodowym zespołem alkoholowym ma ASD lub ubytek przegrody międzykomorowej
- Tytoń – palenie tytoniu w czasie ciąży
- Narkotyki – szczególnie kokaina
- Leki – niektóre leki stosowane w czasie ciąży, w tym te stosowane w leczeniu padaczki i zaburzeń nastroju
- Toczeń – matczyny toczeń rumieniowaty układowy może zwiększać ryzyko
- Narażenie na promieniowanie – ekspozycja na promieniowanie w czasie ciąży
Badania sugerują, że zwiększone spożycie kwasu foliowego w populacji ogólnej poprzez wzbogacanie produktów zbożowych może spowodować 20% redukcję występowania ubytków przegrody międzyprzedsionkowej.1
Płeć jako czynnik ryzyka
ASD występuje częściej u kobiet niż u mężczyzn, ze stosunkiem M:K = 1:2.1 Przyczyna tego zjawiska nie jest dobrze zrozumiana, ale sugeruje, że czynniki związane z płcią mogą wpływać na rozwój ASD.12 Ta dysproporcja płci jest szczególnie wyraźna w przypadku ASD typu ostium secundum.
Naturalna historia i implikacje kliniczne
Naturalna historia ASD różni się w zależności od formy anatomicznej ubytku. W przypadku ubytków typu ostium secundum spontaniczne zamknięcie nie jest rzadkością, szczególnie u niemowląt i małych dzieci.12 Wiele ASD typu secundum lub niewydolnych otworów owalnych zidentyfikowanych w badaniach echokardiograficznych wykonanych z nieswoistych wskazań we wczesnym niemowlęctwie zamyka się samoistnie w późniejszym niemowlęctwie lub wczesnym dzieciństwie.1
Jednak długotrwały hemodynamicznie istotny przeciek prowadzi do przewlekłego przeciążenia objętościowego jam prawej strony serca, a następnie do uszkodzenia mięśnia sercowego, co wykazano przez wyższe wartości wysoce czułej troponiny sercowej I u pacjentów z ASD w porównaniu do dopasowanych kontroli.1
Znaczący ASD, który nie zostanie zamknięty, może prowadzić do:123
- Przeciążenia objętościowego prawego przedsionka i prawej komory
- Nadciśnienia płucnego
- Podwyższonego oporu naczyniowego płuc
- Przerostu prawej komory
- Zaburzeń rytmu serca (np. tachykardia nadkomorowa, trzepotanie przedsionków, migotanie przedsionków)
- Zatorów paradoksalnych (przejście skrzepliny z układu żylnego do krążenia systemowego, powodując zator tętniczy, np. udar mózgu)
- Niewydolności serca
- Zespołu Eisenmengera (dwukierunkowy przeciek przedsionkowy z sinicą) w wieku dorosłym
Znaczące ASD są związane ze zwiększoną chorobowością i śmiertelnością, co wykazały stare badania, podkreślające rosnącą śmiertelność wraz z wiekiem.1 Istotny przeciek międzyprzedsionkowy może zmniejszyć wydolność wysiłkową, sprzyjać arytmiom przedsionkowym, przyczyniać się do rozwoju niewydolności serca i nadciśnienia płucnego, a ostatecznie wpływać na przeżycie.1
Implikacje dla leczenia
Małe ASD często zamykają się samoistnie, ale większe nie, powodując przeciążenie prawego przedsionka i komory, a ostatecznie nadciśnienie płucne, podwyższony opór naczyń płucnych i przerost prawej komory. ASD mogą również pozwalać na przedostawanie się zatorów z żył do krążenia systemowego (zator paradoksalny), powodując niedrożność tętnic (np. udar mózgu).1
Umiarkowane do dużych ASD powinny być zamknięte, zazwyczaj między 2. a 6. rokiem życia, używając urządzenia przezskórnego, gdy jest to możliwe.1 W przypadkach, gdy otwór jest bardzo duży, lub anatomia serca jest złożona lub nieodpowiednia dla urządzenia, może być wymagana operacja.1
Większość dzieci, u których przeprowadzono naprawę ASD, będzie prowadzić zdrowe życie. Wyniki zależą również od typu ASD, a także od tego, jak wcześnie w życiu ASD zostało zdiagnozowane i czy zostało naprawione.1
Wnioski
Defekt przegrody międzyprzedsionkowej (ASD) to złożona wrodzona wada serca o wieloczynnikowej etiologii. Dokładna przyczyna większości przypadków ASD nie jest w pełni zrozumiała, ale dowody wskazują na kombinację czynników genetycznych, środowiskowych i matczynych.1
Czynniki genetyczne odgrywają znaczącą rolę, szczególnie w przypadkach związanych z zespołami genetycznymi, takimi jak zespół Downa, zespół Holta-Orama i zespół Ellisa-van Crevelda. Mutacje genów, w tym GATA4, NKX2-5 i TBX5, zostały zidentyfikowane jako przyczyny ASD.1
Ekspozycja na czynniki środowiskowe podczas ciąży, takie jak zakażenie różyczką, cukrzyca, spożywanie alkoholu, palenie tytoniu, używanie narkotyków i niektóre leki, może zwiększać ryzyko rozwoju ASD u płodu.1
Zrozumienie etiologii ASD jest kluczowe dla opracowania strategii profilaktycznych i poprawy wyników leczenia. Wczesna diagnoza i odpowiednie leczenie są niezbędne do zapobiegania długoterminowym powikłaniom tej wady, takim jak nadciśnienie płucne, niewydolność serca i zaburzenia rytmu serca.1
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Materiały źródłowe
- #1 Atrial Septal Defect (ASD) – Pediatrics – Merck Manual Professional Editionhttps://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/atrial-septal-defect-asd
Atrial septal defects account for about 6 to 10% of cases of congenital heart disease (1). Most cases are isolated and sporadic, but some are part of a genetic syndrome (eg, mutations of chromosome 5, Holt-Oram syndrome). The combination of an atrial septal defect and atrioventricular conduction disturbance may be associated with a mutation in the NKX2-5 homeobox gene. […] In atrial septal defect, shunting is left to right initially (see figure Atrial septal defect). Some small ASDs, often just a stretched patent foramen ovale, close spontaneously during the first few years of life. Persistent moderate to large ASDs result in large shunts, leading to right atrial and right ventricular volume overload. If unrepaired, these large shunts may lead to pulmonary artery hypertension, elevated pulmonary vascular resistance, and right ventricular hypertrophy by the time people are in their 30s or 40s.
- #1 Atrial Septal Defect (ASD) in Childrenhttps://healthlibrary.gradyhealth.org/Wellness/BloodPressure/90,P01766
The heart forms during the first 8 weeks of pregnancy. It starts as a hollow tube and divides into 4 chambers. These chambers are separated by walls (septa). It’s normal for the walls to have openings as the fetus grows. The openings usually close shortly before or just after birth. If they don’t all close, the atrial septum will have a hole in it. This is called an ASD. ASDs are often associated with other congenital heart defects. Often the associated defect causes more problem than the ASD itself. […] Some congenital heart defects may be passed down in certain families. Most atrial septal defects occur by chance. There is no clear reason why they happen.
- #1 Atrial Septal Defect: Background, Pathophysiology, Etiologyhttps://emedicine.medscape.com/article/162914-overview
Atrial septal defects (ASDs) are a congenital cardiac disorder caused by the spontaneous malformation of the interatrial septum. […] Defects in the atrial septum result from abnormalities of this process. […] Note the following types of ASD: Patent foramen ovale: This type of ASD results from a residual flap connection between the septum primum and the septum secundum. […] Ostium secundum ASD: Before the septum primum can completely fuse with the AV canal septum, small perforations develop and coalesce in the superior portion of the septum primum, leading to a secundum ASD. […] Ostium primum ASD: These defects are caused by incomplete fusion of septum primum with the endocardial cushion. […] The remaining two defects do not actually involve a true defect in the interatrial septum but physiologically behave similarly, allowing for atrial mixing of blood: Sinus venosus ASD: Abnormal fusion between the embryologic sinus venosus and the atrium causes these defects. […] Coronary sinus ASD: The coronary sinus defect is characterized by unroofed coronary sinus and persistent left superior vena cava that drains into the left atrium.
- #1 Atrial Septal Defect – StatPearls – NCBI Bookshelfhttps://www.ncbi.nlm.nih.gov/sites/books/NBK535440/
Atrial septal defect (ASD) is one of the most common types of congenital heart defects, occurring in about 25% of children. […] ASDs occur as singular defects but are associated with Mendelian inheritance, aneuploidy, transcription errors, mutations, and maternal exposures. […] Maternal exposure to rubella and drugs like cocaine and alcohol may also predispose the unborn fetus to developing an ASD. […] ASDs have also been associated with familial genetic disorders and conduction defects. […] Key transcription factors involved in atrial septation include GATA4, NKX2-5, and TBX5. […] These features are linked to TBX5 mutations. […] NKX2-5 gene mutations are associated with congenital heart diseases, such as ASDs and tetralogy of Fallot, as well as atrioventricular blocks and juvenile sudden cardiac death.
- #1 Ostium Secundum Atrial Septal Defects: Background, Pathophysiology, Etiologyhttps://emedicine.medscape.com/article/890991-overview
Isolated secundum atrial septal defect occasionally demonstrates familial inheritance in an autosomal dominant pattern, particularly when associated with prolonged atrioventricular conduction (ie, prolonged PR interval on ECG). Familial secundum ASD also occurs in Holt-Oram Syndrome. […] Even when not associated with an identifiable inheritance pattern, the incidence of secundum atrial septal defect is 2-3 times higher in first-degree relatives than in the general population. […] A PTPN11 gene mutation has been identified in patients with Noonan syndrome in whom heart defects occur in 85%. […] The most prevalent defects are secundum ASD and pulmonary valve stenosis; these defects were significantly associated with this gene mutation. […] Evidence suggests that increased folic acid intake in the general population by fortification of grain products can produce a 20% reduction in occurrence of atrial septal defects.
- #1 Atrial septal defect | Radiology Reference Article | Radiopaedia.orghttps://radiopaedia.org/articles/atrial-septal-defect-2?lang=us
Atrial septal defect (ASD) is the second most common congenital heart defect after ventricular septal defect (VSD). […] Atrial septal defects account for 10% of congenital heart disease and are more common in women, M:F = 1:2. Close family history of ASD was found in 2%. […] Atrial septal defects are seen in association with the following: Down syndrome 19: 50% have congenital heart disease and endocardial cushion defects predominate, outnumbering secundum ASD, other trisomies, Holt-Oram syndrome: autosomal dominant inheritance, mutations of the T-box-5 gene (TBX5) prevent normal development of the upper limbs and heart, Ellis-van Creveld syndrome (chondroecterdermal dysplasia): 50% have mutations in the EVC or EVC2 genes, autosomal recessive inheritance, rare but more prevalent in Old Order Pennsylvanian Amish and Western Australian Indigenous peoples, familial ASD (without skeletal manifestations), autosomal dominant due to mutations in the cardiac transcription factor NKX2.5, GATA4 gene variants also have a role in ASD.
- #1 Atrial Septal Defect (ASD): Causes, Symptoms, Diagnosis, Surgery, Treatment, Cost, Risk & Recoveryhttps://mymedtrip.com/atrial-septal-defect-asd-with-cost/
A septum is the muscle wall that separates the hearts upper two chambers (atria). An ASD is a congenital defect that occurs when the septum does not form properly and is present at birth. […] Atrial Septal Defects are heart abnormalities that arise during fetal development and are apparent at birth. […] Most congenital heart problems are caused by a mix of genetics and other conditions involving the mother during pregnancy, such as drug, alcohol use, etc. Specific genetic abnormalities are responsible for about 10% of congenital heart defects. […] The majority of ASD instances are not hereditary and happen by accident. Autosomal dominant inheritance appears to be present in some circumstances. […] A significant Atrial Septal Defect that has been present for a long period can damage the heart and lungs.
- #1https://continentalhospitals.com/diseases/atrial-septal-defect/
Atrial septal defect (ASD) is a common congenital heart defect that affects the structure of the heart. […] Several factors can contribute to the development of ASD: Genetic Factors: ASD can run in families, suggesting a genetic predisposition. Certain genetic syndromes like Down syndrome, Holt-Oram syndrome, and Ellis-van Creveld syndrome are associated with an increased risk of ASD. […] Environmental Factors: Exposure to certain environmental factors during pregnancy, such as alcohol consumption, smoking, or certain medications, may increase the risk of ASD in the baby. […] Maternal Health: Maternal health during pregnancy can influence the risk of ASD. Conditions like poorly controlled diabetes or certain viral infections during pregnancy may contribute to the development of ASD in the baby.
- #1 Atrial septal defect (ASD) – Symptoms and causes – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/atrial-septal-defect/symptoms-causes/syc-20369715
An atrial septal defect (ASD) is a heart condition that you’re born with. That means it’s a congenital heart defect. People with an ASD have a hole between the upper heart chambers. The hole increases the amount of blood going through the lungs. […] The cause of atrial septal defect is not clear. The problem affects the structure of the heart. It happens as the baby’s heart is forming during pregnancy. […] The following may play a role in the cause of congenital heart defects such as atrial septal defect: Changes in genes. Some medical conditions. Certain medicines. Smoking. Alcohol misuse. […] Atrial septal defect (ASD) occurs as the baby’s heart is forming during pregnancy. It is a congenital heart defect. Things that may increase a baby’s risk of atrial septal defect or other heart problems present at birth include: German measles, also called rubella, during the first few months of pregnancy. Diabetes. Lupus. Alcohol or tobacco use during pregnancy. Cocaine use during pregnancy. Use of some medicines during pregnancy, including those to treat seizures and mood conditions. […] Some types of congenital heart defects occur in families. This means they are inherited. Tell your care team if you or someone in your family had a heart problem present at birth. Screening by a genetic counselor can help show the risk of certain heart defects in future children.
- #1 Atrial Septal Defect (ASD) | Children’s Hospital Coloradohttps://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/atrial-septal-defect/
If your child has an atrial septal defect, or ASD, he or she has a hole in the wall of the heart that separates its two upper chambers, the left and right atrium. The hole is formed when the heart wall, called the atrial septum, does not seal completely during a baby’s development. This condition is sometimes known as „a hole in the heart” in children. ASD in kids is a congenital heart defect, which means children are born with it. […] ASD is more common in girls, although the reason why is still unknown.
- #1 Pathophysiology and natural history of atrial septal defect – Gloan – Journal of Thoracic Diseasehttps://jtd.amegroups.org/article/view/19688/html
Atrial septal defects are among the third most common types of congenital heart disease. This group of malformations includes several types of atrial communications allowing shunting of blood between the systemic and the pulmonary circulations. The degree and the direction of the interatrial shunt depend on the size of the defect and the interatrial pressure gradient, related to the relative ventricular compliances. Therefore, when unclosed, a significant atrial septal defect may influence mortality and morbidity. […] The natural history of atrial septal defects varies according to the anatomic form. In ostium secundum defects, spontaneous closure is not uncommon. […] A longstanding haemodynamically significant shunt leads to chronic right-sided cavities volume overload, and then to myocardial injury, as demonstrated by higher highly sensitive cardiac troponin I values in patients with atrial septal defects compared to matched controls.
- #1 Isolated atrial septal defects (ASDs) in children: Classification, clinical features, and diagnosis – UpToDatehttps://www.uptodate.com/contents/isolated-atrial-septal-defects-asds-in-children-classification-clinical-features-and-diagnosis
Atrial septal defects (ASDs) are common, accounting for approximately 10 to 15 percent of congenital heart disease. The clinical consequences of an ASD are related to the anatomic location of the defect, its size, and the presence or absence of other cardiac anomalies. […] ASDs account for approximately 10 to 15 percent of congenital heart disease, with a reported birth prevalence of approximately 1 to 2 per 1000 live births. […] The apparent reported prevalence of ASD has increased because of increased use of echocardiography in the neonatal period. Many secundum ASDs or incompetent foramen ovales identified on echocardiograms obtained for nonspecific indications in early infancy close spontaneously during later infancy or early childhood. […] ASDs are classified based on their anatomic location, which generally reflects the abnormality of embryogenesis that led to the anomaly.
- #1 Pathophysiology and natural history of atrial septal defect – Gloan – Journal of Thoracic Diseasehttps://jtd.amegroups.org/article/view/19688/html
Significant atrial septal defects are associated with increased morbidity and mortality, as demonstrated by old studies, highlighting the rising mortality with age. […] The natural history of atrial septal defects, although less a matter of interest since the development of surgical and percutaneous closure, remains relevant. Significant interatrial shunting may decrease exercise capacity, favor atrial arrhythmias, contribute to the development of heart failure and pulmonary hypertension, and ultimately impact survival.
- #1 Atrial Septal Defect (ASD) – Pediatrics – Merck Manual Professional Editionhttps://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/atrial-septal-defect-asd
Rarely, when an ASD is undiagnosed or untreated for decades, Eisenmenger syndrome develops. […] Small atrial communications often close spontaneously, but larger ones do not, causing right atrial and ventricular overload and ultimately pulmonary artery hypertension, elevated pulmonary vascular resistance, and right ventricular hypertrophy; supraventricular tachycardia, atrial flutter, or atrial fibrillation may also occur. […] ASDs can allow emboli from the veins to enter the systemic circulation (paradoxical embolization), causing arterial occlusion (eg, stroke). […] Moderate to large ASDs should be closed, typically between ages 2 years and 6 years, using a transcatheter device when possible.
- #1 Atrial Septal Defect | Children’s Hospital of Philadelphiahttps://www.chop.edu/conditions-diseases/atrial-septal-defect
An atrial septal defect (ASD) is a congenital heart disease in which there is an opening in the wall (the atrial septum) between the heart’s two upper chambers (the right and left atria). […] An ASD or hole in the septum allows the oxygenated blood to pass from the left atrium, through the opening in the septum, and into the right atrium, causing the blood to mix. […] This can eventually lead to heart failure, pulmonary hypertension and/or heart rhythm abnormalities. […] If the ASD is large, or doesn’t close on its own, closure is recommended. […] In cases where the hole is very large, or the heart anatomy is either complex or not suitable for a device, surgery may be required.
- #1 Pediatric Atrial Septal Defect (ASD) – Conditions and Treatments | Children’s National Hospitalhttps://www.childrensnational.org/get-care/health-library/atrial-septal-defect-asd
The decision to close the ASD may also depend on the size of the defect. […] The majority of children who have had an atrial septal defect repair will live healthy lives. […] Outcomes also depend on the type of ASD, as well as how early in life the ASD was diagnosed and whether or not it was repaired.
- #1 Atrial Septal Defect | Mass General Brighamhttps://www.massgeneralbrigham.org/en/patient-care/services-and-specialties/heart/conditions/atrial-septal-defect
Atrial septal defect (ASD) is a congenital heart defect, which means someone is born with the condition. It’s possible to inherit the condition, or it can occur without any family history. […] The exact cause of ASD is still unknown. Other than genetics, factors during pregnancy, like medications, alcohol and nicotine use, and environmental exposures, could potentially play a role in the development of ASD.
- #2 Isolated atrial septal defects (ASDs) in children: Classification, clinical features, and diagnosis – UpToDatehttps://www.uptodate.com/contents/isolated-atrial-septal-defects-asds-in-children-classification-clinical-features-and-diagnosis
Atrial septal defects (ASDs) are common, accounting for approximately 10 to 15 percent of congenital heart disease. The clinical consequences of an ASD are related to the anatomic location of the defect, its size, and the presence or absence of other cardiac anomalies. […] ASDs account for approximately 10 to 15 percent of congenital heart disease, with a reported birth prevalence of approximately 1 to 2 per 1000 live births. […] The apparent reported prevalence of ASD has increased because of increased use of echocardiography in the neonatal period. Many secundum ASDs or incompetent foramen ovales identified on echocardiograms obtained for nonspecific indications in early infancy close spontaneously during later infancy or early childhood. […] ASDs are classified based on their anatomic location, which generally reflects the abnormality of embryogenesis that led to the anomaly.
- #2 Atrial Septal Defect | Causes, diagnosis, & treatment | Children’s Wisconsinhttps://childrenswi.org/medical-care/herma-heart/conditions/atrial-septal-defect
An atrial septal defect (ASD) is a congenital (present at birth) heart defect that develops early in pregnancy. As the fetus is growing, something occurs during the first eight weeks to affect heart development, resulting in an ASD. […] Atrial septal defects occur when the partitioning process does not occur completely, leaving an opening in the atrial septum. […] Some congenital heart defects may have a genetic link, either occurring due to a defect in a gene, a chromosome abnormality, or environmental exposure, causing heart problems to occur more often in certain families. Most atrial septal defects occur sporadically (by chance), with no clear reason for their development.
- #2 Atrial Septal Defect: Causes and Symptomshttps://www.massgeneral.org/children/atrial-septal-defect
In most cases, there is no clear cause of an ASD. ASDs often happen at random. It is not anyones fault. […] There are 4 types of ASD. Some of these defects can involve other heart structures: […] Ostium secundum ASD is the most common type. This is when the septum does not close completely while the heart is developing. […] Ostium primum ASD is a defect in the lower part of the atrial septum. It is accompanied by a defect in one of the valves (openings that lets blood in and out). […] Sinus venosus ASD is a hole between the atria and involves an abnormal drainage of a vein to the right atrium. […] Coronary sinus ASD is very rare. It is when there is a hole in the coronary sinus (a part of the heart that carries blood from the hearts main vein into the right side of the heart).
- #2 Pediatric Atrial Septal Defect (ASD) – Conditions and Treatments | Children’s National Hospitalhttps://www.childrensnational.org/get-care/health-library/atrial-septal-defect-asd
An atrial septal defect (ASD) is an opening in the atrial septum, or dividing wall between the two upper chambers of the heart. […] ASD can be a congenital (present at birth) heart defect, or it can result from the failure of normal postnatal closure of a hole that is present in the heart of every fetus. […] Atrial septal defects usually occur when the partitioning process does not occur completely, leaving an opening in the atrial septum. […] Some congenital heart defects may have a genetic link, either occurring due to a defect in a gene, a chromosome abnormality or environmental exposure, causing heart problems to occur more often in certain families. Most atrial septal defects occur sporadically (by chance), with no clear reason for their development. […] Ostium secundum atrial septal defect. This is the most common atrial septal defect, affecting over two-thirds of people with atrial septal defects. It is caused when a part of the atrial septum fails to close completely while the heart is developing.
- #2 Atrial Septal Defect: Symptoms, Types & Treatmenthttps://my.clevelandclinic.org/health/diseases/11622-atrial-septal-defect-asd
An atrial septal defect (ASD) is a congenital heart defect. It happens when the septum doesn’t form properly. The exact cause of atrial septal defects isn’t fully known. But genetic changes that happen before birth often cause congenital heart defects. Some genetic variations associated with atrial septal defect affect the NKX2.5/CSX, GATA4 and TBX5 genes. […] Some babies born with an atrial septal defect also have other heart defects or genetic disorders. These include: Mitral or pulmonary valve disease, Ventricular septal defect (VSD), Holt-Oram syndrome, Down syndrome, Williams syndrome.
- #2 Atrial Septal Defect – StatPearls – NCBI Bookshelfhttps://www.ncbi.nlm.nih.gov/sites/books/NBK535440/
Atrial septal defect (ASD) is one of the most common types of congenital heart defects, occurring in about 25% of children. […] ASDs occur as singular defects but are associated with Mendelian inheritance, aneuploidy, transcription errors, mutations, and maternal exposures. […] Maternal exposure to rubella and drugs like cocaine and alcohol may also predispose the unborn fetus to developing an ASD. […] ASDs have also been associated with familial genetic disorders and conduction defects. […] Key transcription factors involved in atrial septation include GATA4, NKX2-5, and TBX5. […] These features are linked to TBX5 mutations. […] NKX2-5 gene mutations are associated with congenital heart diseases, such as ASDs and tetralogy of Fallot, as well as atrioventricular blocks and juvenile sudden cardiac death.
- #2 Atrial Septal Defect (ASD) | Rady Children’s Hospitalhttps://www.rchsd.org/health-article/atrial-septal-defect-asd/
An atrial septal defect (ASD) sometimes called a hole in the heart is a type of congenital heart defect in which there is an abnormal opening in the dividing wall between the upper filling chambers of the heart (the atria). […] Children with ASDs are born with the defect. ASDs happen during fetal development of the heart. The heart develops from a large tube, dividing into sections that will eventually become its walls and chambers. If theres a problem during this process, a hole can form in the wall that divides the left atrium from the right. […] In some cases, the tendency to develop an ASD might be inherited (genetic). Genetic syndromes can cause extra or missing pieces of chromosomes that can be associated with ASD. Most ASDs, though, have no clear cause. Its also not clear why ASDs are more common in girls than in boys.
- #2 Atrial septal defect (ASD) – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/atrial-septal-defect/diagnosis-treatment/drc-20369720
Some atrial septal defects (ASDs) are found before or soon after a child is born. […] Treatment for atrial septal defect (ASD) depends on: […] An atrial septal defect may close on its own during childhood. […] Some atrial septal defects that do not close need a procedure to close the hole. […] People with large atrial septal defects who do not have surgery to close the hole often have worse long-term outcomes.
- #2 Atrial Septal Defect (ASD) – Pediatrics – Merck Manual Professional Editionhttps://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/atrial-septal-defect-asd
Atrial arrhythmias, such as supraventricular tachycardia (SVT), atrial flutter, or atrial fibrillation, may also occur. The presence of an atrial shunt, even if predominantly left-to-right, may be associated with a paradoxical embolus due to a transient right-to-left shunt. Ultimately, the increase in the pulmonary artery pressure and vascular resistance may result in a bidirectional atrial shunt with cyanosis (Eisenmenger syndrome) during mid to late adulthood (most commonly over the age of 40). […] Most patients with small or moderate-sized atrial septal defects are asymptomatic. Even large ASDs may not cause symptoms in young children. Larger shunts may cause slow weight gain in early childhood and exercise intolerance, dyspnea during exertion, fatigue, and/or palpitations in older patients.
- #3 Atrial Septal Defect (ASD) in Childrenhttp://livinghealthy.hawaiipacifichealth.org/Conditions/Heart/Congenital/90,P01766
The atrial septum is the wall between the two upper chambers of the heart (right and left atria). An atrial septal defect (ASD) is an abnormal hole in this wall. ASD is a heart problem that is present at birth (congenital). ASDs are common and account for about 10% to 15% of congenital heart disease. […] ASDs can happen on their own. Or they can happen in children born with other congenital heart defects. […] Some congenital heart defects may be passed down in certain families. Most atrial septal defects occur by chance. There is no clear reason why they happen.
- #3https://www.nicklauschildrens.org/conditions-we-treat/atrial-septal-defect
An Atrial Septal Defect is a heart condition that is present at birth due to abnormal development of the fetal heart during pregnancy. […] Most of the time this heart defect occurs by chance, with no clear reason for their development. […] The most common ASD, caused when a part of the atrial septum does not close completely when the heart is developing. […] This defect is associated with a split in one of the leaflets of the mitral valve. […] This defect causes the drainage of one or more of the pulmonary veins to be abnormal resulting in the pulmonary veins draining to the right atrium instead of the left atrium. […] The rarest of all ASDs, this defect is characterized by the absence of a portion of the common wall that separates the coronary sinus and left atrium.
- #3 Atrial septal defect | Radiology Reference Article | Radiopaedia.orghttps://radiopaedia.org/articles/atrial-septal-defect-2?lang=us
Atrial septal defect (ASD) is the second most common congenital heart defect after ventricular septal defect (VSD). […] Atrial septal defects account for 10% of congenital heart disease and are more common in women, M:F = 1:2. Close family history of ASD was found in 2%. […] Atrial septal defects are seen in association with the following: Down syndrome 19: 50% have congenital heart disease and endocardial cushion defects predominate, outnumbering secundum ASD, other trisomies, Holt-Oram syndrome: autosomal dominant inheritance, mutations of the T-box-5 gene (TBX5) prevent normal development of the upper limbs and heart, Ellis-van Creveld syndrome (chondroecterdermal dysplasia): 50% have mutations in the EVC or EVC2 genes, autosomal recessive inheritance, rare but more prevalent in Old Order Pennsylvanian Amish and Western Australian Indigenous peoples, familial ASD (without skeletal manifestations), autosomal dominant due to mutations in the cardiac transcription factor NKX2.5, GATA4 gene variants also have a role in ASD.
- #3 Atrial Septal Defect – Pediatric Heart Specialistshttps://www.pediatricheartspecialists.com/view/83
An atrial septal defect (ASD) is a congenital defect, or birth defect of the heart. […] The cause of most atrial septal defects is unknown. Some may be related to genetic disorders. Atrial septal defects are found relatively frequently in babies with certain syndromes, for example Down syndrome, trisomy 13, and trisomy 18. Other factors that may play a role include maternal alcohol exposure or drug use. A good portion of ASD’s have no explainable cause whatsoever.
- #3 Atrial Septal Defect | Cardiology | Mercy Healthhttps://www.mercy.com/health-care-services/heart-vascular/conditions/atrial-septal-defect
Atrial septal defects typically develop during early fetal development and are likely caused by a variety of factors including genetics, use of alcohol, street drugs or conditions such as diabetes or lupus. […] People with other genetic abnormalities or defects are at higher risk for developing an atrial septal defect. […] Conditions that may occur during pregnancy that may increase your risk of a having a child with an atrial septal defect include: Diabetes you have (or had) diabetes while pregnant, you could have a baby with a heart defect. […] Fetal alcohol syndrome approximately 25% of patients born with fetal alcohol syndrome have an atrial septal defect or ventricular septal defect. […] Rubella infection if you had rubella during the first few months of pregnancy, your child is at higher risk for developing a heart defect. […] Gender women are more likely to develop an atrial septal defect.
- #3 Atrial Septal Defect (ASD) – Pediatrics – Merck Manual Professional Editionhttps://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/atrial-septal-defect-asd
Rarely, when an ASD is undiagnosed or untreated for decades, Eisenmenger syndrome develops. […] Small atrial communications often close spontaneously, but larger ones do not, causing right atrial and ventricular overload and ultimately pulmonary artery hypertension, elevated pulmonary vascular resistance, and right ventricular hypertrophy; supraventricular tachycardia, atrial flutter, or atrial fibrillation may also occur. […] ASDs can allow emboli from the veins to enter the systemic circulation (paradoxical embolization), causing arterial occlusion (eg, stroke). […] Moderate to large ASDs should be closed, typically between ages 2 years and 6 years, using a transcatheter device when possible.
- #4 Atrial Septal Defect in Children – What You Need to Knowhttps://www.drugs.com/cg/atrial-septal-defect-in-children.html
An ASD is a hole in the septum (wall) between the upper chambers (atria) of your child’s heart. […] The cause of an ASD is not known. An ASD happens during your child’s development before birth. Any of the following can increase your child’s risk for an ASD: A family history of ASD, Being born early, Mother’s age during pregnancy was 35 years or older, or she had rubella early in her pregnancy, Mother’s use of alcohol or cigarettes during pregnancy, Having another heart defect, A high blood glucose (sugar) level.