Atrezja płucna
Etiologia i przyczyny

Atrezja płucna (AP) to wrodzona wada serca charakteryzująca się całkowitym brakiem lub nieprawidłowym rozwojem zastawki płucnej, co prowadzi do zablokowania przepływu krwi z prawej komory do tętnic płucnych i ograniczenia utlenowania krwi. Wyróżnia się dwa główne typy: atrezję płucną z ubytkiem przegrody międzykomorowej (PA-VSD), często powiązaną z zespołem DiGeorge’a (delecja 22q11) i innymi zespołami genetycznymi, oraz atrezję płucną z nienaruszoną przegrodą międzykomorową (PA/IVS), gdzie prawa komora jest niedorozwinięta, a zastawka trójdzielna może być hipoplastyczna. Etiologia pozostaje niejasna, choć wskazuje się na kombinację czynników genetycznych i środowiskowych, w tym mutacje genów MTHFR, ERCC1, ERCC5, PARP2 i OSGEP oraz czynniki ryzyka takie jak otyłość matki, cukrzyca, infekcje wirusowe i ekspozycja na teratogeny w czasie ciąży.

Etiologia atrezji płucnej

Atrezja płucna (łac. atresia pulmonalis) to wrodzona wada serca, w której zastawka płucna nie rozwija się prawidłowo. Charakteryzuje się całkowitym brakiem lub nieprawidłowym uformowaniem zastawki, która kontroluje przepływ krwi z prawej komory serca do tętnic płucnych. W rezultacie powstaje blokada, która uniemożliwia przepływ krwi z serca do płuc, co prowadzi do ograniczenia utlenowania krwi.123

Okres rozwoju wady

Atrezja płucna rozwija się we wczesnym okresie życia płodowego, zazwyczaj w ciągu pierwszych 6-8 tygodni ciąży. Jest to krytyczny okres, w którym formuje się serce płodu i rozpoczyna bicie, a także rozwijają się główne naczynia krwionośne biegnące do i od serca. Właśnie na tym etapie rozwoju płodu może rozpocząć się formowanie tej wrodzonej wady serca.456

Problem występuje podczas formowania się serca w pierwszych ośmiu tygodniach rozwoju płodowego. W przypadku atrezji płucnej, zastawka płucna po prostu nie rozwija się prawidłowo, co prowadzi do braku przepływu krwi z prawej komory do płuc.78

Brak jednoznacznej przyczyny

Dokładna przyczyna atrezji płucnej pozostaje nieznana. Tak jak w przypadku większości wrodzonych wad serca, nie ma wyraźnej przyczyny tego schorzenia. Większość przypadków występuje sporadycznie, bez oczywistego powodu rozwoju tej wady.91011

Naukowcy uważają, że może być ona wynikiem kombinacji czynników genetycznych i środowiskowych. W niektórych przypadkach, atrezja płucna może być związana z innymi wadami wrodzonymi serca, takimi jak przetrwały przewód tętniczy (PDA) czy ubytek przegrody międzykomorowej (VSD).1213

Typy atrezji płucnej

Atrezję płucną można podzielić na dwa główne typy, które w rzeczywistości stanowią różne wady serca:1415

Atrezja płucna z ubytkiem przegrody międzyprzedsionkowej (PA/VSD)

W tym typie atrezji płucnej występuje dodatkowy otwór w tkance między głównymi komorami pompującymi serca dziecka. Ten otwór to ubytek przegrody międzykomorowej (VSD). Niektórzy autorzy uważają, że atrezja płucna z VSD jest ciężką formą tetralogii Fallota.161718

W przypadku PA-VSD, zastawka płucna nie jest w pełni uformowana, a tętnice płucne mogą być bardzo małe lub mogą być nieobecne.19

Etiologia PA-VSD nie jest w pełni wyjaśniona, ale istnieje zauważalny związek z zespołami genetycznymi. Badania wykazały 45% częstość występowania PA-VSD u dzieci z zespołem DiGeorge’a (delecja 22q11); zespół DiGeorge’a jest związany z brakiem grasicy, co może być widoczne podczas korekcji chirurgicznej.2021

Atrezja płucna z nienaruszoną przegrodą międzyprzedsionkową (PA/IVS)

Jeśli nie ma VSD, prawa dolna komora serca otrzymuje niewielki przepływ krwi przed urodzeniem. Komora często nie formuje się w pełni. Ten stan nazywany jest atrezją płucną z nienaruszoną przegrodą międzykomorową (PA/IVS).22

Osoby z PA/IVS mogą mieć również słabo rozwiniętą zastawkę trójdzielną. Mogą też mieć niedorozwiniętą lub bardzo grubą prawą komorę oraz nieprawidłowe naczynia krwionośne zasilające serce. Rzadziej zaangażowane są struktury w lewej komorze, zastawka aortalna i prawy przedsionek.2324

Badania genetyczne podkreślają, że heterotaksja i niedrożność drogi wypływu z prawej komory są wysoce dziedzicznymi formami wrodzonej choroby serca, ale dokładna przyczyna PA-IVS pozostaje nieznana. Teorie sugerują, że potencjalne przyczyny mogą obejmować problemy z rozwojem zastawki płucnej, ograniczenie przepływu przez zastawkę trójdzielną lub anomalie tętnicy wieńcowej.25

Czynniki ryzyka

Chociaż dokładna przyczyna atrezji płucnej nie jest znana, zidentyfikowano kilka czynników, które mogą zwiększać ryzyko jej wystąpienia.2627

Czynniki genetyczne

Niektóre wrodzone wady serca, w tym atrezja płucna, mogą występować rodzinnie, co sugeruje ich dziedziczenie. Historia rodzinna wrodzonych wad serca może zwiększać ryzyko wystąpienia atrezji płucnej u dziecka.282930

Nowsze badania z wykorzystaniem sekwencjonowania całego eksonu odkryły nowe geny związane z atrezją płucną.31

Atrezja płucna może być związana z zespołami genetycznymi, takimi jak:323334

  • Zespół DiGeorge’a (delecja 22q11)
  • Zespół VACTERL
  • Zespół Alagille’a
  • Zespół CHARGE
  • Trisomie 13, 18 i 21
  • Zespół velocardiofacial

35363738

U 45% dzieci z zespołem DiGeorge’a występuje również atrezja płucna z ubytkiem przegrody międzykomorowej (PA-VSD). Zespół DiGeorge’a jest zespołem wrodzonym, w którym dziecku brakuje części chromosomu 22.3940

Czynniki środowiskowe i zdrowotne matki

Pewne stany zdrowotne lub stosowanie niedozwolonych leków w czasie ciąży mogą zwiększać ryzyko atrezji płucnej lub innych wrodzonych wad serca u dziecka. Do czynników ryzyka należą:414243

  • Otyłość matki przed zajściem w ciążę
  • Spożywanie alkoholu lub palenie tytoniu przed lub w trakcie ciąży
  • Cukrzyca (zwłaszcza nieodpowiednio kontrolowana)
  • Stosowanie niektórych rodzajów leków w czasie ciąży, takich jak niektóre leki na trądzik (np. izotretynoina) i leki przeciwnadciśnieniowe
  • Infekcje wirusowe, np. różyczka, podczas wczesnej ciąży
  • Starszy wiek matki podczas ciąży
  • Choroby autoimmunologiczne, takie jak toczeń
  • Narażenie na niektóre leki przeciwdrgawkowe lub leki stosowane w leczeniu zaburzeń dwubiegunowych

4445464748

Istnieje również powiązanie pomiędzy określonymi genami a paleniem tytoniu przez matkę, co może zwiększać ryzyko wystąpienia wrodzonych wad serca (w tym PA-VSD): matki, które mają genotyp CC w pozycji 677 genu MTHFR, mają zwiększone ryzyko urodzenia dziecka z wrodzoną wadą serca. Inne geny, które zwiększają ryzyko wad serca u dzieci matek palących, to warianty genów ERCC1, ERCC5, PARP2 i OSGEP.49

Teorie na temat patogenezy

Chociaż dokładna przyczyna atrezji płucnej pozostaje nieznana, naukowcy zaproponowali kilka teorii wyjaśniających patogenezę tej wady:50

  1. Pierwotne uszkodzenie zastawki płucnej – teoria sugeruje, że podstawowym problemem jest nieprawidłowy rozwój zastawki płucnej, co prowadzi do jej atrezji.
  2. Nieprawidłowa zastawka żylna – inna teoria sugeruje, że może to być wynikiem nieprawidłowej zastawki żylnej, która ogranicza przepływ przez zastawkę trójdzielną do prawej komory.
  3. Nieprawidłowy rozwój tętnic wieńcowych – kolejna teoria wskazuje na nieprawidłowy rozwój tętnic wieńcowych jako potencjalną przyczynę.

51

Możliwości zapobiegania

Ponieważ dokładna przyczyna atrezji płucnej nie jest znana, nie ma znanego sposobu zapobiegania tej wadzie.525354

Jednakże, istnieją kroki, które można podjąć, aby zmniejszyć ryzyko rozwoju wrodzonych wad serca, w tym atrezji płucnej:55

  • Unikanie palenia tytoniu
  • Unikanie spożywania alkoholu podczas ciąży
  • Unikanie stosowania niektórych leków podczas ciąży (zawsze należy konsultować się z lekarzem przed przyjmowaniem jakichkolwiek leków w czasie ciąży)
  • Zapewnienie odpowiedniego leczenia cukrzycy, jeśli jest to konieczne

56

Jeśli u ciebie lub kogoś w twojej rodzinie stwierdzono wadę serca, w tym atrezję płucną, porozmawiaj z zespołem medycznym o tym, czy badania genetyczne są dla ciebie odpowiednie. Badania genetyczne mogą pomóc określić ryzyko wystąpienia określonych wrodzonych wad serca u przyszłych dzieci.575859

Implikacje kliniczne i prognostyczne

Zrozumienie etiologii atrezji płucnej ma istotne znaczenie dla właściwego podejścia terapeutycznego. Różne formy tej wady, zwłaszcza PA/VSD i PA/IVS, mogą wymagać odmiennego leczenia i wiążą się z różnym rokowaniem.60

Bez odpowiedniego leczenia, atrezja płucna jest wadą zagrażającą życiu, ponieważ serce nie może pompować natlenionej krwi do organizmu i nie może podtrzymać życia.6162

Dzieci z atrezją płucną będą wymagały dożywotniego monitorowania przez kardiologa dziecięcego, a później kardiologa dla dorosłych specjalizującego się w wrodzonych wadach serca.63

Inne czynniki, które mogą wpływać na zdrowie dziecka z atrezją płucną, to:64

  • Obecność zespołu chromosomowego lub genetycznego
  • Przedwczesne urodzenie i masa urodzeniowa
  • Występowanie innych wad serca

65

Dokładne procedury i czas leczenia zależą od stanu dziecka, w tym od ciężkości wady i obecności innych wad serca. W niektórych przypadkach dzieci z atrezją płucną mogą wymagać przeszczepu serca.66

Kolejne rozdziały

Zapraszamy do dalszego czytania naszego leksykonu.

Wybierz kolejny rozdział z menu poniżej, aby otworzyć nową podstronę kompedium wiedzy i uzyskać szczegółowe informację o leku, substancji lub chorobie.

  1. 10.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Pulmonary atresia – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/pulmonary-atresia/symptoms-causes/syc-20350727
    In pulmonary atresia, the valve that lets blood flow from the heart to the lungs doesn’t form as it should. […] The cause of pulmonary atresia is not clear. During the first six weeks of pregnancy, the baby’s heart begins to form and starts beating. The major blood vessels that run to and from the heart also begin to develop during this critical time. It’s at this point in a baby’s development that a congenital heart defect such as pulmonary atresia may begin to develop. […] Certain health conditions or illicit drug use during pregnancy may increase a baby’s risk of pulmonary atresia or other congenital heart defects. Risk factors include: Obesity, Alcohol or tobacco use, Diabetes, Use of some types of medicines during pregnancy, such as certain acne and blood pressure medicines. […] Some types of congenital heart defects occur in families. This means they are inherited. If you or someone in your family was born with a heart problem, including pulmonary atresia, ask your care team is genetic screening is right for you. Screening can help show the risk of certain congenital heart defects in future children.
  • #2 Pulmonary Atresia: Overview, Causes, Treatment
    https://www.healthline.com/health/pulmonary-atresia
    Pulmonary atresia is a serious congenital heart irregularity that develops during fetal development. In this condition, the pulmonary valve, which controls blood flow from the heart to the lungs, doesn’t form properly. This prevents blood from flowing to the lungs to pick up oxygen, leading to severe health issues such as heart failure. […] The exact cause of pulmonary atresia is unknown, but it’s believed to result from a combination of genetic and environmental factors. […] Pulmonary atresia occurs during fetal development when the baby’s heart is forming. It happens when the valve that controls blood flow from the heart to the lungs doesn’t form correctly, leading to a blockage that prevents blood from reaching the lungs. […] Risk factors for pulmonary atresia include: Genetic factors: A family history of congenital heart irregularities can increase the risk of a child being born with pulmonary atresia. Research has discovered new genes linked to pulmonary atresia through whole exome sequencing. […] Certain maternal factors during pregnancy, such as maternal diabetes, smoking, older age during pregnancy, or intake of teratogenic drugs (medications that affect the fetus), may increase the risk of congenital heart irregularities in the baby, including pulmonary atresia.
  • #3 About Pulmonary Atresia | Congenital Heart Defects (CHDs) | CDC
    https://www.cdc.gov/heart-defects/about/pulmonary-atresia.html
    Pulmonary atresia is a congenital heart defect. Congenital means present at birth. It occurs when the valve that controls blood flow from the heart to the lungs doesn’t form at all. […] The causes of pulmonary atresia among most babies are unknown. Some babies have heart defects because of changes in their genes or chromosomes. A combination of genes and other risk factors may increase the risk for pulmonary atresia. These factors can include things in a mother’s environment, what she eats or drinks, or the medicines she uses.
  • #4 Pulmonary atresia – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/pulmonary-atresia/symptoms-causes/syc-20350727
    In pulmonary atresia, the valve that lets blood flow from the heart to the lungs doesn’t form as it should. […] The cause of pulmonary atresia is not clear. During the first six weeks of pregnancy, the baby’s heart begins to form and starts beating. The major blood vessels that run to and from the heart also begin to develop during this critical time. It’s at this point in a baby’s development that a congenital heart defect such as pulmonary atresia may begin to develop. […] Certain health conditions or illicit drug use during pregnancy may increase a baby’s risk of pulmonary atresia or other congenital heart defects. Risk factors include: Obesity, Alcohol or tobacco use, Diabetes, Use of some types of medicines during pregnancy, such as certain acne and blood pressure medicines. […] Some types of congenital heart defects occur in families. This means they are inherited. If you or someone in your family was born with a heart problem, including pulmonary atresia, ask your care team is genetic screening is right for you. Screening can help show the risk of certain congenital heart defects in future children.
  • #5 Pulmonary Atresia (PA) | Causes, Symptoms, Diagnosis & Treatment
    https://www.cincinnatichildrens.org/patients/child/encyclopedia/defects/pa
    Pulmonary atresia (PA) is a complicated congenital (present at birth) heart defect. It occurs due to abnormal development of the fetal heart in the first trimester of pregnancy. […] The problem occurs as the heart is forming during the first eight weeks of fetal development. […] Some congenital heart defects may have a genetic link. This may be due to a defect in a gene, a chromosome abnormality or environmental exposure. This may cause heart problems to occur more often in certain families. Most of the time, this heart defect occurs by chance with no clear reason for its development.
  • #6 Pulmonary atresia | UM Health-Sparrow
    https://www.uofmhealthsparrow.org/departments-conditions/conditions/pulmonary-atresia
    The cause of pulmonary atresia is not clear. During the first six weeks of pregnancy, the baby’s heart begins to form and starts beating. The major blood vessels that run to and from the heart also begin to develop during this critical time. It’s at this point in a baby’s development that a congenital heart defect such as pulmonary atresia may begin to develop. […] In pulmonary atresia, the pulmonary valve doesn’t form as usual so it can’t open. Blood can’t flow from the right ventricle to the lungs. […] Sometimes there’s a second hole in the tissue between the main pumping chambers of the baby’s heart. This hole is a ventricular septal defect (VSD). […] If there’s no VSD, the right lower heart chamber gets little blood flow before birth. The chamber often doesn’t form fully. This is a condition called pulmonary atresia with intact ventricular septum (PA/IVS).
  • #7 Pulmonary Atresia | Boston Children’s Hospital
    https://www.childrenshospital.org/conditions/pulmonary-atresia
    Pulmonary atresia is a type of heart defect that a baby is born with. It occurs when the pulmonary valve — normally located between the right ventricle and the pulmonary artery — doesn’t form properly. This means that blood can’t flow from the heart to the lungs to get oxygen to the body. In some cases, babies with pulmonary atresia may also have a small, or missing, right ventricle that can’t properly pump blood to the lungs. […] There is no clear cause for this condition. When a baby has pulmonary atresia, the pulmonary valve simply doesn’t develop properly during the first weeks of heart development. […] In some cases, congenital heart defects may have a genetic link, either due to a defect in a gene or a chromosome abnormality — causing heart problems to occur more often in certain families.
  • #8 Pulmonary atresia | Children’s Wisconsin
    https://childrenswi.org/medical-care/herma-heart/conditions/pulmonary-atresia
    Pulmonary atresia (PA) is a complicated congenital (present at birth) defect that occurs due to abnormal development of the fetal heart during the first 8 weeks of pregnancy. […] The problem occurs as the heart is forming during the first 8 weeks of fetal development. […] 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 of the time, this heart defect occurs sporadically (by chance), with no clear reason for its development. […] Pulmonary atresia occurs in about one out of every 10,000 live births.
  • #9 Pulmonary Atresia: Symptoms, Causes and Treatment
    https://my.clevelandclinic.org/health/diseases/14779-pulmonary-atresia
    Pulmonary atresia is a congenital heart defect, which means its present at birth. […] The exact cause of pulmonary atresia is unknown. Pulmonary valve atresia occurs during the first eight weeks that a fetus is developing in the uterus. […] Genetic factors, such as an abnormal gene or chromosomal defect, may increase the chances of heart defects in certain families. Some children with genetic disorders like DiGeorges syndrome or velocardiofacial syndrome may be at greater risk for pulmonary atresia.
  • #10 Pulmonary Atresia (PA) | Causes, Symptoms, Diagnosis & Treatment
    https://www.cincinnatichildrens.org/patients/child/encyclopedia/defects/pa
    Pulmonary atresia (PA) is a complicated congenital (present at birth) heart defect. It occurs due to abnormal development of the fetal heart in the first trimester of pregnancy. […] The problem occurs as the heart is forming during the first eight weeks of fetal development. […] Some congenital heart defects may have a genetic link. This may be due to a defect in a gene, a chromosome abnormality or environmental exposure. This may cause heart problems to occur more often in certain families. Most of the time, this heart defect occurs by chance with no clear reason for its development.
  • #11 Pulmonary atresia Information | Mount Sinai – New York
    https://www.mountsinai.org/health-library/diseases-conditions/pulmonary-atresia
    Pulmonary atresia is a form of heart disease in which the pulmonary valve does not form properly. It is present from birth (congenital heart disease). […] As with most congenital heart diseases, there is no known cause of pulmonary atresia. The condition is linked with another type of congenital heart defect called a patent ductus arteriosus (PDA). […] Pulmonary atresia may occur with or without a ventricular septal defect (VSD). […] Although both conditions are called pulmonary atresia, they are, in fact, different defects. […] People with PA/IVS may also have a poorly developed tricuspid valve. They may also have an underdeveloped or very thick right ventricle, and abnormal blood vessels feeding the heart. Less commonly, structures in the left ventricle, aortic valve, and right atrium are involved.
  • #12 Pulmonary Atresia: Overview, Causes, Treatment
    https://www.healthline.com/health/pulmonary-atresia
    Pulmonary atresia is a serious congenital heart irregularity that develops during fetal development. In this condition, the pulmonary valve, which controls blood flow from the heart to the lungs, doesn’t form properly. This prevents blood from flowing to the lungs to pick up oxygen, leading to severe health issues such as heart failure. […] The exact cause of pulmonary atresia is unknown, but it’s believed to result from a combination of genetic and environmental factors. […] Pulmonary atresia occurs during fetal development when the baby’s heart is forming. It happens when the valve that controls blood flow from the heart to the lungs doesn’t form correctly, leading to a blockage that prevents blood from reaching the lungs. […] Risk factors for pulmonary atresia include: Genetic factors: A family history of congenital heart irregularities can increase the risk of a child being born with pulmonary atresia. Research has discovered new genes linked to pulmonary atresia through whole exome sequencing. […] Certain maternal factors during pregnancy, such as maternal diabetes, smoking, older age during pregnancy, or intake of teratogenic drugs (medications that affect the fetus), may increase the risk of congenital heart irregularities in the baby, including pulmonary atresia.
  • #13 Pulmonary atresia: MedlinePlus Medical EncyclopediaLock
    https://medlineplus.gov/ency/article/001091.htm
    Pulmonary atresia is a form of heart disease in which the pulmonary valve does not form properly. It is present from birth (congenital heart disease). […] As with most congenital heart diseases, there is no known cause of pulmonary atresia. The condition is linked with another type of congenital heart defect called a patent ductus arteriosus (PDA). […] Pulmonary atresia may occur with or without a ventricular septal defect (VSD). […] Although both conditions are called pulmonary atresia, they are, in fact, different defects. […] People with PA/IVS may also have a poorly developed tricuspid valve. They may also have an underdeveloped or very thick right ventricle, and abnormal blood vessels feeding the heart. Less commonly, structures in the left ventricle, aortic valve, and right atrium are involved. […] There is no known way to prevent this condition. […] Some inherited factors may play a role in congenital heart disease. Many family members may be affected. If you are planning to get pregnant, talk to your provider about screening for genetic diseases.
  • #14 Pulmonary atresia: MedlinePlus Medical EncyclopediaLock
    https://medlineplus.gov/ency/article/001091.htm
    Pulmonary atresia is a form of heart disease in which the pulmonary valve does not form properly. It is present from birth (congenital heart disease). […] As with most congenital heart diseases, there is no known cause of pulmonary atresia. The condition is linked with another type of congenital heart defect called a patent ductus arteriosus (PDA). […] Pulmonary atresia may occur with or without a ventricular septal defect (VSD). […] Although both conditions are called pulmonary atresia, they are, in fact, different defects. […] People with PA/IVS may also have a poorly developed tricuspid valve. They may also have an underdeveloped or very thick right ventricle, and abnormal blood vessels feeding the heart. Less commonly, structures in the left ventricle, aortic valve, and right atrium are involved. […] There is no known way to prevent this condition. […] Some inherited factors may play a role in congenital heart disease. Many family members may be affected. If you are planning to get pregnant, talk to your provider about screening for genetic diseases.
  • #15 Pulmonary atresia Information | Mount Sinai – New York
    https://www.mountsinai.org/health-library/diseases-conditions/pulmonary-atresia
    Pulmonary atresia is a form of heart disease in which the pulmonary valve does not form properly. It is present from birth (congenital heart disease). […] As with most congenital heart diseases, there is no known cause of pulmonary atresia. The condition is linked with another type of congenital heart defect called a patent ductus arteriosus (PDA). […] Pulmonary atresia may occur with or without a ventricular septal defect (VSD). […] Although both conditions are called pulmonary atresia, they are, in fact, different defects. […] People with PA/IVS may also have a poorly developed tricuspid valve. They may also have an underdeveloped or very thick right ventricle, and abnormal blood vessels feeding the heart. Less commonly, structures in the left ventricle, aortic valve, and right atrium are involved.
  • #16 Pulmonary atresia | UM Health-Sparrow
    https://www.uofmhealthsparrow.org/departments-conditions/conditions/pulmonary-atresia
    The cause of pulmonary atresia is not clear. During the first six weeks of pregnancy, the baby’s heart begins to form and starts beating. The major blood vessels that run to and from the heart also begin to develop during this critical time. It’s at this point in a baby’s development that a congenital heart defect such as pulmonary atresia may begin to develop. […] In pulmonary atresia, the pulmonary valve doesn’t form as usual so it can’t open. Blood can’t flow from the right ventricle to the lungs. […] Sometimes there’s a second hole in the tissue between the main pumping chambers of the baby’s heart. This hole is a ventricular septal defect (VSD). […] If there’s no VSD, the right lower heart chamber gets little blood flow before birth. The chamber often doesn’t form fully. This is a condition called pulmonary atresia with intact ventricular septum (PA/IVS).
  • #17 Pulmonary artery atresia | Radiology Reference Article | Radiopaedia.org
    https://radiopaedia.org/articles/pulmonary-artery-atresia?lang=us
    Pulmonary artery atresia, sometimes known as pulmonary atresia, is a congenital cardiovascular anomaly where there is complete disruption between the right ventricular outflow tract (RVOT) and the pulmonary trunk. […] The term pulmonary atresia can cover a broad spectrum of abnormalities depending on the extent of the disruption. […] Pulmonary atresia with VSD (PA-VSD) is considered by some authors as a severe form of tetralogy of Fallot. […] Pulmonary atresia is present in two-fifths of right isomerism cases. […] Management varies depending on the presence of a VSD. […] One surgical technique includes the unifocalisation procedure which can be performed in cases with complete pulmonary artery atresia with major aortopulmonary collateral arteries (MAPCAs).
  • #18 Pulmonary atresia with ventricular septal defect – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/pulmonary-atresia-ventricular-septum-defect/symptoms-causes/syc-20580510
    Pulmonary atresia with ventricular septal defect, also called PA-VSD, is a heart condition present at birth. […] The cause of pulmonary atresia with ventricular septal defect, also called PA-VSD, is not clear. Most congenital heart conditions happen during the first six weeks of pregnancy. […] In PA-VSD, the pulmonary valve isn’t fully formed. […] In babies with pulmonary atresia, the lung arteries can be very small. Or they may be missing.
  • #19 Pulmonary atresia with ventricular septal defect – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/pulmonary-atresia-ventricular-septum-defect/symptoms-causes/syc-20580510
    Pulmonary atresia with ventricular septal defect, also called PA-VSD, is a heart condition present at birth. […] The cause of pulmonary atresia with ventricular septal defect, also called PA-VSD, is not clear. Most congenital heart conditions happen during the first six weeks of pregnancy. […] In PA-VSD, the pulmonary valve isn’t fully formed. […] In babies with pulmonary atresia, the lung arteries can be very small. Or they may be missing.
  • #20 Pulmonary Atresia With Ventricular Septal Defect – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK562277/
    Pulmonary atresia with ventricular septal defect (PAVSD) is a rare and complex congenital heart anomaly characterized by the underdevelopment or complete obstruction of the pulmonary valve, preventing blood flow from the right ventricle to the lungs. […] The etiology of PAVSD is not completely elucidated yet, but there is a noteworthy connection with genetic syndromes. Results from a study reported a 45% incidence of PAVSD in children with DiGeorge syndrome (22q11 deletion); DiGeorge syndrome is associated with a lack of a thymus, which may be evidenced during surgical correction. […] Several risk factors have been linked with PAVSD: History of congenital heart diseases in either parent, History of intake of teratogenic drugs by the mother during gestation, Smoking during or before pregnancy, Poorly controlled diabetes, Pregnancy at an older age. […] These risk factors are not specific to PAVSD and are also found frequently in other congenital anomalies.
  • #21 Pulmonary atresia: Types, causes, symptoms, and more
    https://www.medicalnewstoday.com/articles/pulmonary-atresia
    Pulmonary atresia is a congenital condition (a condition present at birth) that affects a newborns heart. It limits blood flow from the heart to the lungs. A baby with this condition may need surgery soon after birth. […] The cause of pulmonary atresia is unclear in most cases. However, the condition may result from mutations in the chromosomes or genes. […] There may be a connection between PAVSD and certain genetic syndromes. Some research suggests that PAVSD may occur in 45% of children who have DiGeorge syndrome. DiGeorge syndrome is a congenital condition in which a baby is missing part of chromosome 22. […] Because the exact cause of pulmonary atresia is unclear, it may not be possible to prevent the condition. […] While the exact cause of pulmonary atresia is unclear, a person can take steps to reduce the likelihood that the condition will develop. For example, a person can avoid smoking, avoid drinking alcohol or taking certain drugs during pregnancy, and make sure that they receive proper treatment for diabetes if necessary.
  • #22 Pulmonary atresia | UM Health-Sparrow
    https://www.uofmhealthsparrow.org/departments-conditions/conditions/pulmonary-atresia
    The cause of pulmonary atresia is not clear. During the first six weeks of pregnancy, the baby’s heart begins to form and starts beating. The major blood vessels that run to and from the heart also begin to develop during this critical time. It’s at this point in a baby’s development that a congenital heart defect such as pulmonary atresia may begin to develop. […] In pulmonary atresia, the pulmonary valve doesn’t form as usual so it can’t open. Blood can’t flow from the right ventricle to the lungs. […] Sometimes there’s a second hole in the tissue between the main pumping chambers of the baby’s heart. This hole is a ventricular septal defect (VSD). […] If there’s no VSD, the right lower heart chamber gets little blood flow before birth. The chamber often doesn’t form fully. This is a condition called pulmonary atresia with intact ventricular septum (PA/IVS).
  • #23 Pulmonary atresia: MedlinePlus Medical EncyclopediaLock
    https://medlineplus.gov/ency/article/001091.htm
    Pulmonary atresia is a form of heart disease in which the pulmonary valve does not form properly. It is present from birth (congenital heart disease). […] As with most congenital heart diseases, there is no known cause of pulmonary atresia. The condition is linked with another type of congenital heart defect called a patent ductus arteriosus (PDA). […] Pulmonary atresia may occur with or without a ventricular septal defect (VSD). […] Although both conditions are called pulmonary atresia, they are, in fact, different defects. […] People with PA/IVS may also have a poorly developed tricuspid valve. They may also have an underdeveloped or very thick right ventricle, and abnormal blood vessels feeding the heart. Less commonly, structures in the left ventricle, aortic valve, and right atrium are involved. […] There is no known way to prevent this condition. […] Some inherited factors may play a role in congenital heart disease. Many family members may be affected. If you are planning to get pregnant, talk to your provider about screening for genetic diseases.
  • #24 Pulmonary atresia Information | Mount Sinai – New York
    https://www.mountsinai.org/health-library/diseases-conditions/pulmonary-atresia
    Pulmonary atresia is a form of heart disease in which the pulmonary valve does not form properly. It is present from birth (congenital heart disease). […] As with most congenital heart diseases, there is no known cause of pulmonary atresia. The condition is linked with another type of congenital heart defect called a patent ductus arteriosus (PDA). […] Pulmonary atresia may occur with or without a ventricular septal defect (VSD). […] Although both conditions are called pulmonary atresia, they are, in fact, different defects. […] People with PA/IVS may also have a poorly developed tricuspid valve. They may also have an underdeveloped or very thick right ventricle, and abnormal blood vessels feeding the heart. Less commonly, structures in the left ventricle, aortic valve, and right atrium are involved.
  • #25 Pulmonary Atresia With Intact Ventricular Septum – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK546666/
    Pulmonary atresia with intact ventricular septum is a rare congenital heart disease comprising less than 1% of all heart defects, characterized by membranous or muscular atresia of the right ventricular outflow tract without any ventricular communication, often involving underdevelopment of the right ventricle and tricuspid valve. […] Genetic research highlights that heterotaxy and right ventricular outflow tract obstruction are highly heritable congenital heart disease forms, but the precise cause of PA-IVS remains unknown. Theories suggest that potential causes may include issues with pulmonary valve development, tricuspid valve flow restriction, or coronary artery anomalies. […] Some theories postulated to explain the pathogenesis of this disorder include a primary insult to the pulmonary valve, leading to an atretic valve; an abnormal venous valve that limits flow through the tricuspid valve into the right ventricle; or abnormal coronary arterial development as a result.
  • #26 Pulmonary atresia – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/pulmonary-atresia/symptoms-causes/syc-20350727
    In pulmonary atresia, the valve that lets blood flow from the heart to the lungs doesn’t form as it should. […] The cause of pulmonary atresia is not clear. During the first six weeks of pregnancy, the baby’s heart begins to form and starts beating. The major blood vessels that run to and from the heart also begin to develop during this critical time. It’s at this point in a baby’s development that a congenital heart defect such as pulmonary atresia may begin to develop. […] Certain health conditions or illicit drug use during pregnancy may increase a baby’s risk of pulmonary atresia or other congenital heart defects. Risk factors include: Obesity, Alcohol or tobacco use, Diabetes, Use of some types of medicines during pregnancy, such as certain acne and blood pressure medicines. […] Some types of congenital heart defects occur in families. This means they are inherited. If you or someone in your family was born with a heart problem, including pulmonary atresia, ask your care team is genetic screening is right for you. Screening can help show the risk of certain congenital heart defects in future children.
  • #27 Pulmonary atresia | UM Health-Sparrow
    https://www.uofmhealthsparrow.org/departments-conditions/conditions/pulmonary-atresia
    Certain health conditions or illicit drug use during pregnancy may increase a baby’s risk of pulmonary atresia or other congenital heart defects. Risk factors include: Obesity, Alcohol or tobacco use, Diabetes, Use of some types of medicines during pregnancy, such as certain acne and blood pressure medicines. […] Some types of congenital heart defects occur in families. This means they are inherited. If you or someone in your family was born with a heart problem, including pulmonary atresia, ask your care team is genetic screening is right for you. Screening can help show the risk of certain congenital heart defects in future children.
  • #28 Pulmonary atresia – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/pulmonary-atresia/symptoms-causes/syc-20350727
    In pulmonary atresia, the valve that lets blood flow from the heart to the lungs doesn’t form as it should. […] The cause of pulmonary atresia is not clear. During the first six weeks of pregnancy, the baby’s heart begins to form and starts beating. The major blood vessels that run to and from the heart also begin to develop during this critical time. It’s at this point in a baby’s development that a congenital heart defect such as pulmonary atresia may begin to develop. […] Certain health conditions or illicit drug use during pregnancy may increase a baby’s risk of pulmonary atresia or other congenital heart defects. Risk factors include: Obesity, Alcohol or tobacco use, Diabetes, Use of some types of medicines during pregnancy, such as certain acne and blood pressure medicines. […] Some types of congenital heart defects occur in families. This means they are inherited. If you or someone in your family was born with a heart problem, including pulmonary atresia, ask your care team is genetic screening is right for you. Screening can help show the risk of certain congenital heart defects in future children.
  • #29 Pulmonary atresia | UM Health-Sparrow
    https://www.uofmhealthsparrow.org/departments-conditions/conditions/pulmonary-atresia
    Certain health conditions or illicit drug use during pregnancy may increase a baby’s risk of pulmonary atresia or other congenital heart defects. Risk factors include: Obesity, Alcohol or tobacco use, Diabetes, Use of some types of medicines during pregnancy, such as certain acne and blood pressure medicines. […] Some types of congenital heart defects occur in families. This means they are inherited. If you or someone in your family was born with a heart problem, including pulmonary atresia, ask your care team is genetic screening is right for you. Screening can help show the risk of certain congenital heart defects in future children.
  • #30 Pulmonary Atresia: Overview, Causes, Treatment
    https://www.healthline.com/health/pulmonary-atresia
    Pulmonary atresia is a serious congenital heart irregularity that develops during fetal development. In this condition, the pulmonary valve, which controls blood flow from the heart to the lungs, doesn’t form properly. This prevents blood from flowing to the lungs to pick up oxygen, leading to severe health issues such as heart failure. […] The exact cause of pulmonary atresia is unknown, but it’s believed to result from a combination of genetic and environmental factors. […] Pulmonary atresia occurs during fetal development when the baby’s heart is forming. It happens when the valve that controls blood flow from the heart to the lungs doesn’t form correctly, leading to a blockage that prevents blood from reaching the lungs. […] Risk factors for pulmonary atresia include: Genetic factors: A family history of congenital heart irregularities can increase the risk of a child being born with pulmonary atresia. Research has discovered new genes linked to pulmonary atresia through whole exome sequencing. […] Certain maternal factors during pregnancy, such as maternal diabetes, smoking, older age during pregnancy, or intake of teratogenic drugs (medications that affect the fetus), may increase the risk of congenital heart irregularities in the baby, including pulmonary atresia.
  • #31 Pulmonary Atresia: Overview, Causes, Treatment
    https://www.healthline.com/health/pulmonary-atresia
    Pulmonary atresia is a serious congenital heart irregularity that develops during fetal development. In this condition, the pulmonary valve, which controls blood flow from the heart to the lungs, doesn’t form properly. This prevents blood from flowing to the lungs to pick up oxygen, leading to severe health issues such as heart failure. […] The exact cause of pulmonary atresia is unknown, but it’s believed to result from a combination of genetic and environmental factors. […] Pulmonary atresia occurs during fetal development when the baby’s heart is forming. It happens when the valve that controls blood flow from the heart to the lungs doesn’t form correctly, leading to a blockage that prevents blood from reaching the lungs. […] Risk factors for pulmonary atresia include: Genetic factors: A family history of congenital heart irregularities can increase the risk of a child being born with pulmonary atresia. Research has discovered new genes linked to pulmonary atresia through whole exome sequencing. […] Certain maternal factors during pregnancy, such as maternal diabetes, smoking, older age during pregnancy, or intake of teratogenic drugs (medications that affect the fetus), may increase the risk of congenital heart irregularities in the baby, including pulmonary atresia.
  • #32 Pulmonary Atresia: Symptoms, Causes and Treatment
    https://my.clevelandclinic.org/health/diseases/14779-pulmonary-atresia
    Pulmonary atresia is a congenital heart defect, which means its present at birth. […] The exact cause of pulmonary atresia is unknown. Pulmonary valve atresia occurs during the first eight weeks that a fetus is developing in the uterus. […] Genetic factors, such as an abnormal gene or chromosomal defect, may increase the chances of heart defects in certain families. Some children with genetic disorders like DiGeorges syndrome or velocardiofacial syndrome may be at greater risk for pulmonary atresia.
  • #33 Pulmonary atresia: Types, causes, symptoms, and more
    https://www.medicalnewstoday.com/articles/pulmonary-atresia
    Pulmonary atresia is a congenital condition (a condition present at birth) that affects a newborns heart. It limits blood flow from the heart to the lungs. A baby with this condition may need surgery soon after birth. […] The cause of pulmonary atresia is unclear in most cases. However, the condition may result from mutations in the chromosomes or genes. […] There may be a connection between PAVSD and certain genetic syndromes. Some research suggests that PAVSD may occur in 45% of children who have DiGeorge syndrome. DiGeorge syndrome is a congenital condition in which a baby is missing part of chromosome 22. […] Because the exact cause of pulmonary atresia is unclear, it may not be possible to prevent the condition. […] While the exact cause of pulmonary atresia is unclear, a person can take steps to reduce the likelihood that the condition will develop. For example, a person can avoid smoking, avoid drinking alcohol or taking certain drugs during pregnancy, and make sure that they receive proper treatment for diabetes if necessary.
  • #34 Pulmonary atresia with ventricular septal defect – Wikipedia
    https://en.wikipedia.org/wiki/Pulmonary_atresia_with_ventricular_septal_defect
    Pulmonary atresia in PAVSD takes place during the first 8 weeks of fetal life, when the pulmonary valve that is supposed to form, fails to form, this doesn’t allow blood to flow through the pulmonary artery from the right ventricle. The ventricular septal defect associated with PAVSD lets the right ventricule form. […] Although this birth defect is congenital, the exact cause is unknown, and it may vary between children with the condition, the following factors have been known to influence the risk of a baby being born with the condition. […] The molecular genetics of this condition isn’t known in most people with PA(VSD), however, there have been candidate genes found to be possibly implicated in the pathogenesis of this condition. […] Some cases of PA(VSD) have been associated with genetic syndromes such as VACTERL association, Alagille syndrome, CHARGE syndrome, trisomy 13, 18, and 21.
  • #35 Pulmonary Atresia: Symptoms, Causes and Treatment
    https://my.clevelandclinic.org/health/diseases/14779-pulmonary-atresia
    Pulmonary atresia is a congenital heart defect, which means its present at birth. […] The exact cause of pulmonary atresia is unknown. Pulmonary valve atresia occurs during the first eight weeks that a fetus is developing in the uterus. […] Genetic factors, such as an abnormal gene or chromosomal defect, may increase the chances of heart defects in certain families. Some children with genetic disorders like DiGeorges syndrome or velocardiofacial syndrome may be at greater risk for pulmonary atresia.
  • #36 Pulmonary Atresia With Ventricular Septal Defect – MD Searchlight
    https://mdsearchlight.com/heart-health/pulmonary-atresia-with-ventricular-septal-defect/
    Pulmonary atresia with a ventricular septal defect (PAVSD) is a type of heart disease present at birth that can cause a blue or purple tinge to the skin (cyanosis). […] The causes of PAVSD, or a specific type of heart defect, arent entirely understood yet, but theres a strong link to certain genetic conditions. For instance, research has found that almost half the children with DiGeorge syndrome, a genetic disorder resulting from a small missing piece of chromosome 22, also have PAVSD. […] Two other genetic syndromes, VATER (or VACTERL association) and Alagille syndrome, are also commonly associated with PAVSD. […] There are several risk factors correlated with PAVSD: Having a parent with a congenital heart disease. Use of certain harmful drugs by the mother during pregnancy. Smoking during or before pregnancy. Poorly managed diabetes. Becoming pregnant at an older age. […] However, these risk factors are not exclusive to PAVSD theyre often linked with other congenital defects as well.
  • #37 Pulmonary atresia with ventricular septal defect – Wikipedia
    https://en.wikipedia.org/wiki/Pulmonary_atresia_with_ventricular_septal_defect
    Pulmonary atresia in PAVSD takes place during the first 8 weeks of fetal life, when the pulmonary valve that is supposed to form, fails to form, this doesn’t allow blood to flow through the pulmonary artery from the right ventricle. The ventricular septal defect associated with PAVSD lets the right ventricule form. […] Although this birth defect is congenital, the exact cause is unknown, and it may vary between children with the condition, the following factors have been known to influence the risk of a baby being born with the condition. […] The molecular genetics of this condition isn’t known in most people with PA(VSD), however, there have been candidate genes found to be possibly implicated in the pathogenesis of this condition. […] Some cases of PA(VSD) have been associated with genetic syndromes such as VACTERL association, Alagille syndrome, CHARGE syndrome, trisomy 13, 18, and 21.
  • #38
    https://continentalhospitals.com/diseases/pulmonary-atresia/
    Pulmonary Atresia is a complex congenital heart defect that affects the pulmonary valve, which is responsible for regulating blood flow from the heart to the lungs. This condition occurs when the pulmonary valve fails to develop properly during fetal development. […] This condition can have several causes, including: […] Some cases of pulmonary atresia are associated with genetic abnormalities or syndromes, such as Down syndrome or DiGeorge syndrome. […] Certain maternal factors during pregnancy, such as exposure to certain medications, infections, or toxins, can increase the risk of congenital heart defects, including pulmonary atresia. […] Exposure to environmental factors, such as maternal smoking or alcohol consumption during pregnancy, can also increase the risk of congenital heart defects.
  • #39 Pulmonary atresia: Types, causes, symptoms, and more
    https://www.medicalnewstoday.com/articles/pulmonary-atresia
    Pulmonary atresia is a congenital condition (a condition present at birth) that affects a newborns heart. It limits blood flow from the heart to the lungs. A baby with this condition may need surgery soon after birth. […] The cause of pulmonary atresia is unclear in most cases. However, the condition may result from mutations in the chromosomes or genes. […] There may be a connection between PAVSD and certain genetic syndromes. Some research suggests that PAVSD may occur in 45% of children who have DiGeorge syndrome. DiGeorge syndrome is a congenital condition in which a baby is missing part of chromosome 22. […] Because the exact cause of pulmonary atresia is unclear, it may not be possible to prevent the condition. […] While the exact cause of pulmonary atresia is unclear, a person can take steps to reduce the likelihood that the condition will develop. For example, a person can avoid smoking, avoid drinking alcohol or taking certain drugs during pregnancy, and make sure that they receive proper treatment for diabetes if necessary.
  • #40 Pulmonary Atresia With Ventricular Septal Defect – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK562277/
    Pulmonary atresia with ventricular septal defect (PAVSD) is a rare and complex congenital heart anomaly characterized by the underdevelopment or complete obstruction of the pulmonary valve, preventing blood flow from the right ventricle to the lungs. […] The etiology of PAVSD is not completely elucidated yet, but there is a noteworthy connection with genetic syndromes. Results from a study reported a 45% incidence of PAVSD in children with DiGeorge syndrome (22q11 deletion); DiGeorge syndrome is associated with a lack of a thymus, which may be evidenced during surgical correction. […] Several risk factors have been linked with PAVSD: History of congenital heart diseases in either parent, History of intake of teratogenic drugs by the mother during gestation, Smoking during or before pregnancy, Poorly controlled diabetes, Pregnancy at an older age. […] These risk factors are not specific to PAVSD and are also found frequently in other congenital anomalies.
  • #41 Pulmonary atresia – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/pulmonary-atresia/symptoms-causes/syc-20350727
    In pulmonary atresia, the valve that lets blood flow from the heart to the lungs doesn’t form as it should. […] The cause of pulmonary atresia is not clear. During the first six weeks of pregnancy, the baby’s heart begins to form and starts beating. The major blood vessels that run to and from the heart also begin to develop during this critical time. It’s at this point in a baby’s development that a congenital heart defect such as pulmonary atresia may begin to develop. […] Certain health conditions or illicit drug use during pregnancy may increase a baby’s risk of pulmonary atresia or other congenital heart defects. Risk factors include: Obesity, Alcohol or tobacco use, Diabetes, Use of some types of medicines during pregnancy, such as certain acne and blood pressure medicines. […] Some types of congenital heart defects occur in families. This means they are inherited. If you or someone in your family was born with a heart problem, including pulmonary atresia, ask your care team is genetic screening is right for you. Screening can help show the risk of certain congenital heart defects in future children.
  • #42 Pulmonary atresia | UM Health-Sparrow
    https://www.uofmhealthsparrow.org/departments-conditions/conditions/pulmonary-atresia
    Certain health conditions or illicit drug use during pregnancy may increase a baby’s risk of pulmonary atresia or other congenital heart defects. Risk factors include: Obesity, Alcohol or tobacco use, Diabetes, Use of some types of medicines during pregnancy, such as certain acne and blood pressure medicines. […] Some types of congenital heart defects occur in families. This means they are inherited. If you or someone in your family was born with a heart problem, including pulmonary atresia, ask your care team is genetic screening is right for you. Screening can help show the risk of certain congenital heart defects in future children.
  • #43 Pulmonary atresia | Beacon Health System
    https://www.beaconhealthsystem.org/library/diseases-and-conditions/pulmonary-atresia?content_id=CON-20155225
    The cause of pulmonary atresia is not clear. During the first six weeks of pregnancy, the baby’s heart begins to form and starts beating. The major blood vessels that run to and from the heart also begin to develop during this critical time. It’s at this point in a baby’s development that a congenital heart defect such as pulmonary atresia may begin to develop. […] Certain health conditions or illicit drug use during pregnancy may increase a baby’s risk of pulmonary atresia or other congenital heart defects. Risk factors include: Obesity. Alcohol or tobacco use. Diabetes. Use of some types of medicines during pregnancy, such as certain acne and blood pressure medicines. […] Some types of congenital heart defects occur in families. This means they are inherited. If you or someone in your family was born with a heart problem, including pulmonary atresia, ask your care team is genetic screening is right for you. Screening can help show the risk of certain congenital heart defects in future children.
  • #44 Pulmonary atresia – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/pulmonary-atresia/symptoms-causes/syc-20350727
    In pulmonary atresia, the valve that lets blood flow from the heart to the lungs doesn’t form as it should. […] The cause of pulmonary atresia is not clear. During the first six weeks of pregnancy, the baby’s heart begins to form and starts beating. The major blood vessels that run to and from the heart also begin to develop during this critical time. It’s at this point in a baby’s development that a congenital heart defect such as pulmonary atresia may begin to develop. […] Certain health conditions or illicit drug use during pregnancy may increase a baby’s risk of pulmonary atresia or other congenital heart defects. Risk factors include: Obesity, Alcohol or tobacco use, Diabetes, Use of some types of medicines during pregnancy, such as certain acne and blood pressure medicines. […] Some types of congenital heart defects occur in families. This means they are inherited. If you or someone in your family was born with a heart problem, including pulmonary atresia, ask your care team is genetic screening is right for you. Screening can help show the risk of certain congenital heart defects in future children.
  • #45 Pulmonary atresia | UM Health-Sparrow
    https://www.uofmhealthsparrow.org/departments-conditions/conditions/pulmonary-atresia
    Certain health conditions or illicit drug use during pregnancy may increase a baby’s risk of pulmonary atresia or other congenital heart defects. Risk factors include: Obesity, Alcohol or tobacco use, Diabetes, Use of some types of medicines during pregnancy, such as certain acne and blood pressure medicines. […] Some types of congenital heart defects occur in families. This means they are inherited. If you or someone in your family was born with a heart problem, including pulmonary atresia, ask your care team is genetic screening is right for you. Screening can help show the risk of certain congenital heart defects in future children.
  • #46 Pulmonary Valve Atresia
    https://www.rwjbh.org/treatment-care/heart-and-vascular-care/diseases-conditions/congenital-heart-disease/pulmonary-valve-atresia/
    Pulmonary valve atresia is typically caused by a heart defect present at birth (congenital). […] Other causes include: A parent who has a congenital heart defect. A mother who is obese before getting pregnant. Smoking before or during pregnancy. A mother who has poorly controlled diabetes. Use of some types of medications during pregnancy, such as certain acne drugs and blood pressure medications.
  • #47 Azthena logo with the word Azthena
    https://www.news-medical.net/health/Pulmonary-Atresia-Congenital-Heart-Defect.aspx
    The exact cause of this congenital heart defect is not known, but a number of risk factors that may cause the condition have been delineated. […] The risk of the baby being born with pulmonary atresia increases if the pregnant mother has suffered from rubella or any other viral infection during early pregnancy. […] Drinking or smoking during pregnancy also increases the risk of a congenital heart defect. […] Mothers who have diabetes or suffer from an autoimmune disease called lupus, have a higher chance of bearing babies with Pulmonary Atresia. […] The use of medications for bipolar disorder, acne drug isotretinoin, or anti-seizure medication during pregnancy can also increase the risk. […] Those parents who have had a congenital heart defect may also pass on the faulty gene to the baby. […] As there is no way to identify the exact cause of pulmonary atresia, there is no way to prevent it.
  • #48 Pulmonary atresia with ventricular septal defect – Wikipedia
    https://en.wikipedia.org/wiki/Pulmonary_atresia_with_ventricular_septal_defect
    While congenital heart defects can’t be acquired, they can also be caused by environmental factors the mother exposed herself to before and/or during pregnancy, these include: Smoking, Certain medications (e.g. thalidomide, retinoids, or vitamin A coegers), Alcohol consumption, Vehicle exhaust components, By-products of disinfectants, Incinerators (proximity), Agricultural pesticides, Solvents, Landfill sites, Heavy metals. […] A link between certain genes and maternal smoking has been shown to increase the chance of having children with congenital heart disease (including PAVSD): mothers who have a CC genotype at position 677 of the MTHFR gene have an increased chance of having a CHD-ridden child. Other genes that increase the chance of a child with CHD in smoker mothers who carry genetic variations in them include ERCC1, ERCC5, PARP2, and OSGEP.
  • #49 Pulmonary atresia with ventricular septal defect – Wikipedia
    https://en.wikipedia.org/wiki/Pulmonary_atresia_with_ventricular_septal_defect
    While congenital heart defects can’t be acquired, they can also be caused by environmental factors the mother exposed herself to before and/or during pregnancy, these include: Smoking, Certain medications (e.g. thalidomide, retinoids, or vitamin A coegers), Alcohol consumption, Vehicle exhaust components, By-products of disinfectants, Incinerators (proximity), Agricultural pesticides, Solvents, Landfill sites, Heavy metals. […] A link between certain genes and maternal smoking has been shown to increase the chance of having children with congenital heart disease (including PAVSD): mothers who have a CC genotype at position 677 of the MTHFR gene have an increased chance of having a CHD-ridden child. Other genes that increase the chance of a child with CHD in smoker mothers who carry genetic variations in them include ERCC1, ERCC5, PARP2, and OSGEP.
  • #50 Pulmonary Atresia With Intact Ventricular Septum – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK546666/
    Pulmonary atresia with intact ventricular septum is a rare congenital heart disease comprising less than 1% of all heart defects, characterized by membranous or muscular atresia of the right ventricular outflow tract without any ventricular communication, often involving underdevelopment of the right ventricle and tricuspid valve. […] Genetic research highlights that heterotaxy and right ventricular outflow tract obstruction are highly heritable congenital heart disease forms, but the precise cause of PA-IVS remains unknown. Theories suggest that potential causes may include issues with pulmonary valve development, tricuspid valve flow restriction, or coronary artery anomalies. […] Some theories postulated to explain the pathogenesis of this disorder include a primary insult to the pulmonary valve, leading to an atretic valve; an abnormal venous valve that limits flow through the tricuspid valve into the right ventricle; or abnormal coronary arterial development as a result.
  • #51 Pulmonary Atresia With Intact Ventricular Septum – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK546666/
    Pulmonary atresia with intact ventricular septum is a rare congenital heart disease comprising less than 1% of all heart defects, characterized by membranous or muscular atresia of the right ventricular outflow tract without any ventricular communication, often involving underdevelopment of the right ventricle and tricuspid valve. […] Genetic research highlights that heterotaxy and right ventricular outflow tract obstruction are highly heritable congenital heart disease forms, but the precise cause of PA-IVS remains unknown. Theories suggest that potential causes may include issues with pulmonary valve development, tricuspid valve flow restriction, or coronary artery anomalies. […] Some theories postulated to explain the pathogenesis of this disorder include a primary insult to the pulmonary valve, leading to an atretic valve; an abnormal venous valve that limits flow through the tricuspid valve into the right ventricle; or abnormal coronary arterial development as a result.
  • #52 Pulmonary atresia: MedlinePlus Medical EncyclopediaLock
    https://medlineplus.gov/ency/article/001091.htm
    Pulmonary atresia is a form of heart disease in which the pulmonary valve does not form properly. It is present from birth (congenital heart disease). […] As with most congenital heart diseases, there is no known cause of pulmonary atresia. The condition is linked with another type of congenital heart defect called a patent ductus arteriosus (PDA). […] Pulmonary atresia may occur with or without a ventricular septal defect (VSD). […] Although both conditions are called pulmonary atresia, they are, in fact, different defects. […] People with PA/IVS may also have a poorly developed tricuspid valve. They may also have an underdeveloped or very thick right ventricle, and abnormal blood vessels feeding the heart. Less commonly, structures in the left ventricle, aortic valve, and right atrium are involved. […] There is no known way to prevent this condition. […] Some inherited factors may play a role in congenital heart disease. Many family members may be affected. If you are planning to get pregnant, talk to your provider about screening for genetic diseases.
  • #53 Pulmonary atresia: Types, causes, symptoms, and more
    https://www.medicalnewstoday.com/articles/pulmonary-atresia
    Pulmonary atresia is a congenital condition (a condition present at birth) that affects a newborns heart. It limits blood flow from the heart to the lungs. A baby with this condition may need surgery soon after birth. […] The cause of pulmonary atresia is unclear in most cases. However, the condition may result from mutations in the chromosomes or genes. […] There may be a connection between PAVSD and certain genetic syndromes. Some research suggests that PAVSD may occur in 45% of children who have DiGeorge syndrome. DiGeorge syndrome is a congenital condition in which a baby is missing part of chromosome 22. […] Because the exact cause of pulmonary atresia is unclear, it may not be possible to prevent the condition. […] While the exact cause of pulmonary atresia is unclear, a person can take steps to reduce the likelihood that the condition will develop. For example, a person can avoid smoking, avoid drinking alcohol or taking certain drugs during pregnancy, and make sure that they receive proper treatment for diabetes if necessary.
  • #54 Health Library
    https://www.limamemorial.org/m/health-library/HIE%20Multimedia-TextOnly/1/001091
    Pulmonary atresia is a form of heart disease in which the pulmonary valve does not form properly. […] As with most congenital heart diseases, there is no known cause of pulmonary atresia. […] Some inherited factors may play a role in congenital heart disease. Many family members may be affected.
  • #55 Pulmonary atresia: Types, causes, symptoms, and more
    https://www.medicalnewstoday.com/articles/pulmonary-atresia
    Pulmonary atresia is a congenital condition (a condition present at birth) that affects a newborns heart. It limits blood flow from the heart to the lungs. A baby with this condition may need surgery soon after birth. […] The cause of pulmonary atresia is unclear in most cases. However, the condition may result from mutations in the chromosomes or genes. […] There may be a connection between PAVSD and certain genetic syndromes. Some research suggests that PAVSD may occur in 45% of children who have DiGeorge syndrome. DiGeorge syndrome is a congenital condition in which a baby is missing part of chromosome 22. […] Because the exact cause of pulmonary atresia is unclear, it may not be possible to prevent the condition. […] While the exact cause of pulmonary atresia is unclear, a person can take steps to reduce the likelihood that the condition will develop. For example, a person can avoid smoking, avoid drinking alcohol or taking certain drugs during pregnancy, and make sure that they receive proper treatment for diabetes if necessary.
  • #56 Pulmonary atresia: Types, causes, symptoms, and more
    https://www.medicalnewstoday.com/articles/pulmonary-atresia
    Pulmonary atresia is a congenital condition (a condition present at birth) that affects a newborns heart. It limits blood flow from the heart to the lungs. A baby with this condition may need surgery soon after birth. […] The cause of pulmonary atresia is unclear in most cases. However, the condition may result from mutations in the chromosomes or genes. […] There may be a connection between PAVSD and certain genetic syndromes. Some research suggests that PAVSD may occur in 45% of children who have DiGeorge syndrome. DiGeorge syndrome is a congenital condition in which a baby is missing part of chromosome 22. […] Because the exact cause of pulmonary atresia is unclear, it may not be possible to prevent the condition. […] While the exact cause of pulmonary atresia is unclear, a person can take steps to reduce the likelihood that the condition will develop. For example, a person can avoid smoking, avoid drinking alcohol or taking certain drugs during pregnancy, and make sure that they receive proper treatment for diabetes if necessary.
  • #57 Pulmonary atresia – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/pulmonary-atresia/symptoms-causes/syc-20350727
    In pulmonary atresia, the valve that lets blood flow from the heart to the lungs doesn’t form as it should. […] The cause of pulmonary atresia is not clear. During the first six weeks of pregnancy, the baby’s heart begins to form and starts beating. The major blood vessels that run to and from the heart also begin to develop during this critical time. It’s at this point in a baby’s development that a congenital heart defect such as pulmonary atresia may begin to develop. […] Certain health conditions or illicit drug use during pregnancy may increase a baby’s risk of pulmonary atresia or other congenital heart defects. Risk factors include: Obesity, Alcohol or tobacco use, Diabetes, Use of some types of medicines during pregnancy, such as certain acne and blood pressure medicines. […] Some types of congenital heart defects occur in families. This means they are inherited. If you or someone in your family was born with a heart problem, including pulmonary atresia, ask your care team is genetic screening is right for you. Screening can help show the risk of certain congenital heart defects in future children.
  • #58 Pulmonary atresia | UM Health-Sparrow
    https://www.uofmhealthsparrow.org/departments-conditions/conditions/pulmonary-atresia
    Certain health conditions or illicit drug use during pregnancy may increase a baby’s risk of pulmonary atresia or other congenital heart defects. Risk factors include: Obesity, Alcohol or tobacco use, Diabetes, Use of some types of medicines during pregnancy, such as certain acne and blood pressure medicines. […] Some types of congenital heart defects occur in families. This means they are inherited. If you or someone in your family was born with a heart problem, including pulmonary atresia, ask your care team is genetic screening is right for you. Screening can help show the risk of certain congenital heart defects in future children.
  • #59 Pulmonary atresia | Beacon Health System
    https://www.beaconhealthsystem.org/library/diseases-and-conditions/pulmonary-atresia?content_id=CON-20155225
    The cause of pulmonary atresia is not clear. During the first six weeks of pregnancy, the baby’s heart begins to form and starts beating. The major blood vessels that run to and from the heart also begin to develop during this critical time. It’s at this point in a baby’s development that a congenital heart defect such as pulmonary atresia may begin to develop. […] Certain health conditions or illicit drug use during pregnancy may increase a baby’s risk of pulmonary atresia or other congenital heart defects. Risk factors include: Obesity. Alcohol or tobacco use. Diabetes. Use of some types of medicines during pregnancy, such as certain acne and blood pressure medicines. […] Some types of congenital heart defects occur in families. This means they are inherited. If you or someone in your family was born with a heart problem, including pulmonary atresia, ask your care team is genetic screening is right for you. Screening can help show the risk of certain congenital heart defects in future children.
  • #60 Pulmonary artery atresia | Radiology Reference Article | Radiopaedia.org
    https://radiopaedia.org/articles/pulmonary-artery-atresia?lang=us
    Pulmonary artery atresia, sometimes known as pulmonary atresia, is a congenital cardiovascular anomaly where there is complete disruption between the right ventricular outflow tract (RVOT) and the pulmonary trunk. […] The term pulmonary atresia can cover a broad spectrum of abnormalities depending on the extent of the disruption. […] Pulmonary atresia with VSD (PA-VSD) is considered by some authors as a severe form of tetralogy of Fallot. […] Pulmonary atresia is present in two-fifths of right isomerism cases. […] Management varies depending on the presence of a VSD. […] One surgical technique includes the unifocalisation procedure which can be performed in cases with complete pulmonary artery atresia with major aortopulmonary collateral arteries (MAPCAs).
  • #61 Pulmonary Atresia
    https://healthlibrary.umcno.org/Library/DiseasesConditions/Adult/NervousSystem/90,P01809
    Pulmonary atresia (PA) is a heart defect. It happens when the baby’s heart doesnt form as it should in the uterus. This can happen during the first 8 weeks of pregnancy. […] Some congenital heart defects may happen more often in some families (genetic). Most of the time, there is no known cause. […] Pulmonary atresia is an abnormal development of the pulmonary valve. […] Without repair, the heart cant pump oxygenated blood to the body and cant support life.
  • #62 Pulmonary Atresia
    https://healthlibrary.ecuhealth.org/library/Wellness/Behavior/90,P01809
    Pulmonary atresia (PA) is a heart defect. It happens when the baby’s heart doesnt form as it should in the uterus. This can happen during the first 8 weeks of pregnancy. […] Some congenital heart defects may happen more often in some families (genetic). Most of the time, there is no known cause. […] Pulmonary atresia is an abnormal development of the pulmonary valve. […] Without repair, the heart cant pump oxygenated blood to the body and cant support life. […] Your child will need lifetime follow-up care with a pediatric cardiologist and adult cardiologist familiar with congenital heart defects.
  • #63 Pulmonary Atresia
    https://healthlibrary.ecuhealth.org/library/Wellness/Behavior/90,P01809
    Pulmonary atresia (PA) is a heart defect. It happens when the baby’s heart doesnt form as it should in the uterus. This can happen during the first 8 weeks of pregnancy. […] Some congenital heart defects may happen more often in some families (genetic). Most of the time, there is no known cause. […] Pulmonary atresia is an abnormal development of the pulmonary valve. […] Without repair, the heart cant pump oxygenated blood to the body and cant support life. […] Your child will need lifetime follow-up care with a pediatric cardiologist and adult cardiologist familiar with congenital heart defects.
  • #64 Pulmonary Atresia – Seattle Children’s
    https://www.seattlechildrens.org/conditions/pulmonary-atresia/
    Pulmonary atresia (pronounced PULL-mun-airy ah-TREE-sha) is a very rare, complex birth defect of the pulmonary valve. […] In babies with pulmonary atresia, the pulmonary valve is missing or blocked. This means there is no way for blood to get from the right ventricle to the pulmonary artery. […] Other factors that may affect your child’s health include: […] If your child has a chromosomal or genetic issue. […] If your baby is born early (preterm) and how much they weigh at birth. […] Doctors can diagnose pulmonary atresia when a baby is in the womb using a fetal echocardiogram (fetal echo). […] The exact procedures and timing depend on your child’s condition, including how serious it is and whether they have other heart defects. […] Sometimes babies with pulmonary atresia will need a heart transplant.
  • #65 Pulmonary Atresia – Seattle Children’s
    https://www.seattlechildrens.org/conditions/pulmonary-atresia/
    Pulmonary atresia (pronounced PULL-mun-airy ah-TREE-sha) is a very rare, complex birth defect of the pulmonary valve. […] In babies with pulmonary atresia, the pulmonary valve is missing or blocked. This means there is no way for blood to get from the right ventricle to the pulmonary artery. […] Other factors that may affect your child’s health include: […] If your child has a chromosomal or genetic issue. […] If your baby is born early (preterm) and how much they weigh at birth. […] Doctors can diagnose pulmonary atresia when a baby is in the womb using a fetal echocardiogram (fetal echo). […] The exact procedures and timing depend on your child’s condition, including how serious it is and whether they have other heart defects. […] Sometimes babies with pulmonary atresia will need a heart transplant.
  • #66 Pulmonary Atresia – Seattle Children’s
    https://www.seattlechildrens.org/conditions/pulmonary-atresia/
    Pulmonary atresia (pronounced PULL-mun-airy ah-TREE-sha) is a very rare, complex birth defect of the pulmonary valve. […] In babies with pulmonary atresia, the pulmonary valve is missing or blocked. This means there is no way for blood to get from the right ventricle to the pulmonary artery. […] Other factors that may affect your child’s health include: […] If your child has a chromosomal or genetic issue. […] If your baby is born early (preterm) and how much they weigh at birth. […] Doctors can diagnose pulmonary atresia when a baby is in the womb using a fetal echocardiogram (fetal echo). […] The exact procedures and timing depend on your child’s condition, including how serious it is and whether they have other heart defects. […] Sometimes babies with pulmonary atresia will need a heart transplant.