Atrezja płucna z ubytkiem przegrody międzykomorowej

Atrezja płucna z ubytkiem przegrody międzykomorowej
Etiologia i przyczyny

Atrezja płucna z ubytkiem przegrody międzykomorowej (PA-VSD) to rzadka, złożona wada serca o częstości około 1:10 000 żywych urodzeń, rozwijająca się w pierwszych 8 tygodniach życia płodowego. Charakteryzuje się całkowitym brakiem lub niedorozwojem zastawki płucnej oraz obecnością ubytku w przegrodzie międzykomorowej, co uniemożliwia prawidłowy przepływ krwi z prawej komory do tętnic płucnych. Wada ta jest często powiązana z zespołami genetycznymi, takimi jak zespół DiGeorge’a (delecja 22q11, 45% przypadków PA-VSD), VATER/VACTERL, Alagille’a, CHARGE oraz aberracjami chromosomalnymi (trisomie 13, 18, 21). Czynniki ryzyka środowiskowego obejmują źle kontrolowaną cukrzycę matki (ryzyko wzrasta 10- do 20-krotnie), palenie tytoniu, ekspozycję na alkohol, leki teratogenne (np. kwas walproinowy, fenytoina) oraz zaawansowany wiek matki. Etiologia PA-VSD jest wieloczynnikowa, wynikająca z interakcji predyspozycji genetycznych i czynników środowiskowych, z kluczową rolą zaburzeń migracji komórek grzebienia nerwowego i mezenchymy w rozwoju zastawki płucnej i przegrody międzykomorowej.

Etiologia atrezji płucnej z ubytkiem przegrody międzykomorowej

Podłoże genetyczne
Zaburzenia rozwoju w okresie płodowym
Czynniki ryzyka
Interakcje genetyczno-środowiskowe

Anatomia patologiczna atrezji płucnej z VSD

Główne nieprawidłowości anatomiczne
Alternatywne drogi przepływu krwi
Powiązanie z innymi wadami serca

Wieloczynnikowa teoria powstawania atrezji płucnej z VSD

Teoria wieloczynnikowa
Rola nieprawidłowości migracji komórek
Dziedziczenie rodzinne

Podsumowanie etiologii atrezji płucnej z ubytkiem przegrody międzykomorowej

Kolejne rozdziały

Etiologia atrezji płucnej z ubytkiem przegrody międzykomorowej

Atrezja płucna z ubytkiem przegrody międzykomorowej (PA-VSD) to rzadka i złożona wrodzona wada serca, charakteryzująca się brakiem lub niedorozwojem zastawki płucnej, co uniemożliwia przepływ krwi z prawej komory do płuc, przy jednoczesnej obecności ubytku w przegrodzie międzykomorowej. Ten typ wady występuje z częstością około 1 na 10 000 żywych urodzeń i rozwija się w pierwszych 8 tygodniach życia płodowego.¹²³

Podłoże genetyczne

Mimo że dokładna etiologia PA-VSD nie została w pełni wyjaśniona, istnieje wyraźny związek z uwarunkowaniami genetycznymi. Badania wykazały 45% częstość występowania PA-VSD u dzieci z zespołem DiGeorge’a (delecja 22q11), który wiąże się z brakiem grasicy, co może być zauważalne podczas korekcji chirurgicznej.¹²

PA-VSD bywa również powiązana z innymi zespołami genetycznymi, takimi jak:¹²³

Zespół VATER/VACTERL
Zespół Alagille’a (rokowanie często poważne przy współwystępowaniu z PA-VSD)
Zespół CHARGE
Trisomia 13
Trisomia 18
Trisomia 21 (zespół Downa)
Delecja 5p

¹²³

Wada ta jest często uznawana za skrajną formę tetralogii Fallota i bywa określana jako „tetralogia Fallota z atrezją płucną”.¹²³ Niektórzy autorzy klasyfikują ją również jako typ IV pnia tętniczego Colletta i Edwardsa lub jako pseudotruncus.¹

Zaburzenia rozwoju w okresie płodowym

Atrezja płucna z ubytkiem przegrody międzykomorowej powstaje w wyniku nieprawidłowego rozwoju serca płodu w pierwszych 8 tygodniach ciąży, kiedy formują się główne struktury serca i naczynia krwionośne. W tym krytycznym okresie rozwoju zastawka płucna nie kształtuje się prawidłowo, co prowadzi do jej całkowitego zarośnięcia.¹²³

Etiologia tej wady może być związana z nieprawidłową migracją komórek grzebienia nerwowego i/lub mezenchymy podczas wczesnego rozwoju płodu.¹ PA-VSD odzwierciedla zatrzymanie dojrzewania serca na wcześniejszym etapie niż w przypadku atrezji płucnej z nienaruszoną przegrodą międzykomorową.¹

Czynniki ryzyka

Zidentyfikowano kilka czynników ryzyka związanych z wystąpieniem PA-VSD:¹²³

Wywiad rodzinny – występowanie wrodzonych wad serca u któregokolwiek z rodziców zwiększa ryzyko wystąpienia wady u dziecka
Przyjmowanie leków teratogennych przez matkę w czasie ciąży, w tym leków przeciwpadaczkowych (kwas walproinowy, fenytoina)
Palenie tytoniu przed lub w czasie ciąży
Źle kontrolowana cukrzyca – u matek z cukrzycą występuje 10-krotnie wyższe ryzyko PA-VSD w porównaniu do matek bez cukrzycy, a w przypadku cukrzycy wymagającej leczenia insuliną ryzyko to wzrasta 20-krotnie
Zaawansowany wiek matki podczas ciąży
Ekspozycja na alkohol podczas ciąży
Przyjmowanie benzodiazepin przez matkę (wiąże się z wrodzonymii wadami serca z ilorazem szans 2,15)

¹²³⁴

Warto podkreślić, że te czynniki ryzyka nie są specyficzne wyłącznie dla PA-VSD i są często powiązane z innymi wadami wrodzonymi.¹²

Interakcje genetyczno-środowiskowe

Badania wykazały związek między określonymi genami a czynnikami środowiskowymi, które mogą zwiększać ryzyko wystąpienia wad serca, w tym PA-VSD. Przykładowo, stwierdzono, że matki posiadające genotyp CC w pozycji 677 genu MTHFR, które jednocześnie palą papierosy, mają zwiększone ryzyko posiadania dziecka z wrodzoną wadą serca.¹

Anatomia patologiczna atrezji płucnej z VSD

W atrezji płucnej z ubytkiem przegrody międzykomorowej (PA-VSD) występują charakterystyczne zmiany anatomiczne, które determinują obraz kliniczny i rokowanie.¹²

Główne nieprawidłowości anatomiczne

W PA-VSD występują następujące kluczowe nieprawidłowości:¹²³

Brak zastawki płucnej – całkowity brak lub niedorozwój zastawki płucnej, co uniemożliwia bezpośredni przepływ krwi z prawej komory do tętnicy płucnej
Ubytek przegrody międzykomorowej (VSD) – otwór w przegrodzie między komorami, który pozwala na przepływ krwi między prawą a lewą komorą
Zmienione tętnice płucne – mogą być bardzo małe lub całkowicie nieobecne

¹²³

Obecność ubytku przegrody międzykomorowej pozwala na wzrost i rozwój prawej komory mimo nieprawidłowości zastawki płucnej.¹ Ta cecha anatomiczna odróżnia PA-VSD od atrezji płucnej z nienaruszoną przegrodą międzykomorową (PA/IVS), w której prawa komora jest często hipoplastyczna z powodu braku odpowiedniego przepływu krwi przed urodzeniem.²

Alternatywne drogi przepływu krwi

W PA-VSD organizm rozwija alternatywne drogi przepływu krwi do płuc:¹²³

Przetrwały przewód tętniczy (PDA) – naturalny kanał między aortą a tętnicą płucną, który zazwyczaj zamyka się wkrótce po urodzeniu, ale może pozostać otwarty, zapewniając przepływ krwi do płuc
Główne naczynia oboczne aortalno-płucne (MAPCAs) – dodatkowe naczynia, które tworzą się na głównej tętnicy ciała (aorcie) i pomagają dostarczać krew do płuc; występują szczególnie w przypadkach, gdy natywne krążenie płucne jest niedorozwinięte

¹²³

Noworodki z PA-VSD zwykle czują się dobrze w pierwszych godzinach życia, dopóki przewód tętniczy pozostaje otwarty. Gdy przewód tętniczy zwęża się lub zamyka, przepływ krwi do płuc jest znacznie ograniczony, co może prowadzić do ciężkiej sinicy.¹²

Powiązanie z innymi wadami serca

PA-VSD jest ściśle powiązana z innymi wrodzonymi wadami serca:¹²

Tetralogia Fallota – PA-VSD jest uważana za skrajną formę tetralogii Fallota
Przetrwały przewód tętniczy (PDA) – często współwystępuje z atrezją płucną
Zespół heterotaksji – atrezja płucna występuje w około 40% przypadków izomeryzmu prawostronnego

¹²³

Ryzyko wystąpienia PA-VSD jest również zwiększone u dzieci osób z tetralogią Fallota, co sugeruje wspólne podłoże genetyczne tych wad.¹²

Wieloczynnikowa teoria powstawania atrezji płucnej z VSD

Atrezja płucna z ubytkiem przegrody międzykomorowej ma złożoną etiologię, która najlepiej opisuje model wieloczynnikowy, uwzględniający zarówno uwarunkowania genetyczne, jak i środowiskowe.¹²³

Teoria wieloczynnikowa

Obecnie przyjmuje się, że PA-VSD powstaje w wyniku interakcji między predyspozycją genetyczną a czynnikami środowiskowymi.¹² Ta wieloczynnikowa etiologia jest podobna do przyczyn innych wrodzonych wad serca, w tym tetralogii Fallota, z którą PA-VSD jest blisko powiązana.¹

Badania rodzinne wykazały, że częstość występowania VSD u rodzeństwa pacjentów z tą samą wadą jest około trzy razy wyższa niż w populacji ogólnej, co potwierdza komponent genetyczny.¹ Jednocześnie wysoka częstość rozbieżności występowania wady nawet u bliźniąt jednojajowych sugeruje istotny wpływ czynników środowiskowych.¹

Rola nieprawidłowości migracji komórek

Jedna z hipotez sugeruje, że PA-VSD może być związana z zaburzeniami migracji komórek mezenchymalnych i/lub komórek grzebienia nerwowego podczas wczesnego rozwoju serca.¹ Komórki te odgrywają kluczową rolę w formowaniu zastawek serca i przegrody międzykomorowej, a ich nieprawidłowy rozwój może prowadzić do powstania tej złożonej wady.¹

Dziedziczenie rodzinne

Największym pojedynczym czynnikiem determinującym wystąpienie wrodzonej wady serca, w tym PA-VSD, jest obecność czynnika ryzyka genetycznego, definiowanego jako wcześniejsze wystąpienie wrodzonej wady serca w rodzinie.¹ Wywiad rodzinny wady serca lub wady niesercowej u rodzica lub poprzedniego rodzeństwa stanowi główny czynnik ryzyka.¹

Jeśli dziecko miało PA-VSD, rodzeństwo będzie miało większe ryzyko niż populacja ogólna. Ryzyko to zależy również od tego, czy znaleziono genetyczną przyczynę wady. Jeśli nie znaleziono genetycznej przyczyny problemu, ryzyko ponownego wystąpienia wady wynosi mniej niż 5%.¹

Rodzinne wrodzone wady serca często są zgodne pod względem fenotypu i mechanizmu rozwojowego. Wśród przypadków z VSD częstość wcześniejszego występowania przełożenia wielkich naczyń, tetralogii Fallota i wspólnego pnia tętniczego jest wyższa niż oczekiwana.¹

Podsumowanie etiologii atrezji płucnej z ubytkiem przegrody międzykomorowej

Atrezja płucna z ubytkiem przegrody międzykomorowej (PA-VSD) to rzadka i złożona wrodzona wada serca, która powstaje w pierwszych 8 tygodniach życia płodowego. Choć dokładna przyczyna pozostaje nie w pełni wyjaśniona, aktualne dane wskazują na wieloczynnikową etiologię obejmującą interakcje między predyspozycjami genetycznymi a czynnikami środowiskowymi.¹²³

Istotną rolę w rozwoju tej wady odgrywają czynniki genetyczne, w tym zespoły genetyczne (DiGeorge’a, VACTERL, Alagille’a), aberracje chromosomalne (trisomie 13, 18, 21) oraz potencjalne mutacje genowe.¹²³

Czynniki środowiskowe, takie jak źle kontrolowana cukrzyca matki, palenie tytoniu, spożywanie alkoholu, przyjmowanie leków teratogennych oraz zaawansowany wiek matki podczas ciąży, również zwiększają ryzyko wystąpienia tej wady.¹²³

Wada ta związana jest z nieprawidłowym rozwojem zastawki płucnej oraz obecnością ubytku w przegrodzie międzykomorowej. Rozwój alternatywnych dróg przepływu krwi, takich jak przetrwały przewód tętniczy (PDA) i główne naczynia oboczne aortalno-płucne (MAPCAs), jest kluczowy dla przeżycia dzieci z tą wadą.¹²³

Rozumienie złożonej etiologii PA-VSD jest istotne dla poradnictwa genetycznego, diagnostyki prenatalnej oraz opracowywania skutecznych strategii terapeutycznych dla pacjentów z tą poważną wadą serca.¹²

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Materiały źródłowe

#1 Pulmonary Atresia With Ventricular Septal Defect – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/sites/books/NBK562277/
Pulmonary atresia with ventricular septal defect 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.
#1 Pulmonary atresia with ventricular septal defect – Wikipedia
https://en.wikipedia.org/wiki/Pulmonary_atresia_with_ventricular_septal_defect
Pulmonary atresia with ventricular septal defect is a rare birth defect characterized by pulmonary valve atresia occurring alongside a defect on the right ventricular outflow tract. […] 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. […] 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: […] 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.
#1 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. […] It can be classified into three types: pulmonary atresia with intact interventricular septum (PA-IVS), pulmonary atresia with VSD (PA-VSD), and complex pulmonary atresia (pulmonary atresia with complex cardiac malformation). […] Tetralogy of Fallot: PA-VSD is considered by some authors as a severe form of tetralogy of Fallot. […] Truncus arteriosus (Collett and Edwards type IV) or pseudotruncus: recognized to be a form of PA-VSD rather than truncus arteriosus. […] Heterotaxy syndrome: pulmonary atresia is present in two-fifths of right isomerism cases.
#1 Pulmonary atresia with ventricular septal defect | UM Health-Sparrow
https://www.uofmhealthsparrow.org/departments-conditions/conditions/pulmonary-atresia-ventricular-septal-defect
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. The major blood vessels that run to and from the heart also begin to grow at this time. This is when a congenital heart defect such as pulmonary atresia may occur. […] In PA-VSD, the pulmonary valve isn’t fully formed. There also is a hole in the heart called a ventricular septal defect. The hole lets blood flow into and out of the right lower heart chamber. Some blood also may flow through a natural opening called the ductus arteriosus. The ductus arteriosus usually closes soon after birth. But medicines can keep it open. […] In babies with pulmonary atresia, the lung arteries can be very small. Or they may be missing. If the blood vessels are missing, other vessels form on the body’s main artery, called the aorta. These new vessels help send blood to the lungs. They are called major aortopulmonary collateral arteries, also called MAPCAs.
#1 ð Pulmonary atresia and ventricular septal defect
https://thefetus.net/content/pulmonary-atresia-and-ventricular-septal-defect
The etiology of this condition may be related to an abnormality of mesenchymal and/or neural crest migration. […] Pulmonary atresia with ventricular septal defect reflects an arrest of the heart maturation earlier than that of pulmonary atresia with and intact ventricular septum.
#1 Mayo Clinic Health Library – Pulmonary atresia with ventricular septal defect | Swiss Medical Network
https://www.swissmedical.net/en/healtcare-library/con-20380877
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. There also is a hole in the heart called a ventricular septal defect. […] In babies with pulmonary atresia, the lung arteries can be very small. Or they may be missing.
#1 Partners in Care | Pulmonary Atresia With Ventricular Septal Defectâ¦
https://partnersincare.health/conditions/pulmonary-atresia-with-ventricular-septal-defect
Pulmonary atresia (PA) is a congenital heart defect in which the one-way valve (pulmonary valve) between the right ventricle (responsible for pumping oxygen-poor blood through the pulmonary artery and to the lungs) and pulmonary artery (responsible for carrying blood to the lungs) does not develop at all. […] Pulmonary atresia occurs when the pulmonary valve, which opens to allow blood to be pumped from the right ventricle to the lungs through the pulmonary artery, is not formed, blocking the flow of blood from traveling directly from the right ventricle to the lungs. […] Pulmonary atresia with ventricular septal defect occurs when a hole between the two pumping chambers of the heart (ventricular septal defect) is also present. […] The ventricular septal defect allows the right ventricle to grow and develop despite the pulmonary valve abnormality.
#1 Pulmonary Atresia And Pulmonary Stenosis
https://www.pediatriconcall.com/articles/pediatric-cardiology/pulmonary-atresia-and-pulmonary-stenosis/pulmonary-atresia-and-pulmonary-stenosis-introduction
Pulmonary atresia (PA) is hypoplasia and complete closure of the outflow part of the right ventricle and/or pulmonary artery and the crucial factor for the primary presentation and prognosis is the existence or non-existence of patent ductus arteriosis (PDA). […] Genetic, environmental, and familial factors are included in the multifactorial etiology of pulmonary atresia and stenosis. […] Pulmonary atresia with a ventricular septal defect is synonymous with an extreme form of Tetralogy of Fallot and Type IV truncus arteriosus or psueudotruncus. […] Newborns with PA and VSD are good in the first hours of life until ductus arteriosus closes. […] PA with the intact interventricular septum (IVS) is a very rare congenital heart defect.
#1 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). […] If the person has both problems, the condition is called pulmonary atresia with VSD. This is an extreme form of tetralogy of Fallot. […] Although both conditions are called pulmonary atresia, they are, in fact, different defects.
#1 Pulmonary artesia with ventricular septal defect
https://www.isuog.org/clinical-resources/patient-information-series/patient-information-pregnancy-conditions/heart/pulmonary-artesia-with-ventricular-septal-defect.html
Pulmonary Atresia with Ventricular Septal Defect (PA-VSD) is a complex congenital heart defect (CHD). It occurs in less than 1 in 10,000 fetuses. […] There appears to be a genetic component in PA-VSD, however in many cases no specific cause can be found. It may occur in genetic conditions such as DiGeorge syndrome (a change in a small portion of the genetic material called chromosome 22) or Trisomy 21 (also known as Down Syndrome), or others. There is an increased risk of PA-VSD in siblings of a previous child with this defect, and in the children of individuals with a heart condition called Tetralogy of Fallot. […] It appears that there is a genetic component to PA-VSD. As mentioned, if a child suffered from PA-VSD, their siblings will be at a greater risk than the general population. This also depends on whether a genetic cause was found to explain the PA-VSD. If no genetic reason was found for the problem, the risk of this happening again is less than 5%.
#1 Ventricular Septal Defects: Background, Anatomy, Pathophysiology
https://emedicine.medscape.com/article/892980-overview
For the purposes of etiologic analysis, clustering the defect types mentioned earlier (see Anatomy) according to potential pathogenic mechanisms is beneficial. The following pathologic classification allows comparison of similar defects: […] At present, a multifactorial etiology based on an interaction between hereditary predisposition and environmental influences is assumed to cause the defects. […] Maternal diabetes has long been recognized as a risk factor for congenital cardiovascular malformations (CCVMs). The risk of CCVMs remains high for infants of women with poorly controlled elevated phenylalanine levels. […] The single largest determinant in the BWIS data set is the presence of a genetic risk factor defined as a previous occurrence of a congenital cardiovascular defect in the family. A family history of a cardiac or noncardiac defect in either a parent or a preceding sibling is a major risk factor.
#1 Ventricular Septal Defects: Background, Anatomy, Pathophysiology
https://emedicine.medscape.com/article/892980-overview
The incidence of VSD in siblings of patients with the same malformation is about three times that of the general population. VSDs have been reported in identical twins, but the frequency of discordance is high, even in identical twins. […] Familial congenital heart defects are often concordant by phenotype and developmental mechanism. Among cases with VSDs, previous occurrence of transposition, tetralogy of Fallot (TOF), and truncus arteriosus is higher than expected.
#1 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. […] Maternal factors: 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.
#2 Pulmonary Atresia with Ventricular Septal Defect | Children’s Mercy Kansas City
https://www.childrensmercy.org/departments-and-clinics/heart-center/pulmonary-atresia-with-ventricular-septal-defect/
Pulmonary atresia occurs in about every 1 in 10,000 live births and occurs in the first 8 weeks of fetal development. […] The exact cause is not known, though it can be related to certain genetic conditions.
#2 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. […] 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.
#2 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, aren’t entirely understood yet, but there’s 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. Notably, when Alagille syndrome occurs alongside PAVSD, the prognosis tends to be quite serious. […] 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 they’re often linked with other congenital defects as well.
#2 Pulmonary Atresia And Pulmonary Stenosis
https://www.pediatriconcall.com/articles/pediatric-cardiology/pulmonary-atresia-and-pulmonary-stenosis/pulmonary-atresia-and-pulmonary-stenosis-introduction
Pulmonary atresia (PA) is hypoplasia and complete closure of the outflow part of the right ventricle and/or pulmonary artery and the crucial factor for the primary presentation and prognosis is the existence or non-existence of patent ductus arteriosis (PDA). […] Genetic, environmental, and familial factors are included in the multifactorial etiology of pulmonary atresia and stenosis. […] Pulmonary atresia with a ventricular septal defect is synonymous with an extreme form of Tetralogy of Fallot and Type IV truncus arteriosus or psueudotruncus. […] Newborns with PA and VSD are good in the first hours of life until ductus arteriosus closes. […] PA with the intact interventricular septum (IVS) is a very rare congenital heart defect.
#2 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. […] 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.
#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. […] Maternal factors: 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.
#2 Partners in Care | Pulmonary Atresia With Ventricular Septal Defectâ¦
https://partnersincare.health/conditions/pulmonary-atresia-with-ventricular-septal-defect
Pulmonary atresia (PA) is a congenital heart defect in which the one-way valve (pulmonary valve) between the right ventricle (responsible for pumping oxygen-poor blood through the pulmonary artery and to the lungs) and pulmonary artery (responsible for carrying blood to the lungs) does not develop at all. […] Pulmonary atresia occurs when the pulmonary valve, which opens to allow blood to be pumped from the right ventricle to the lungs through the pulmonary artery, is not formed, blocking the flow of blood from traveling directly from the right ventricle to the lungs. […] Pulmonary atresia with ventricular septal defect occurs when a hole between the two pumping chambers of the heart (ventricular septal defect) is also present. […] The ventricular septal defect allows the right ventricle to grow and develop despite the pulmonary valve abnormality.
#2 Pulmonary atresia | Altru Health System
https://www.altru.org/health-library/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).
#2 Partners in Care | Pulmonary Atresia With Ventricular Septal Defectâ¦
https://partnersincare.health/conditions/pulmonary-atresia-with-ventricular-septal-defect
PA with VSD can present in many different ways and is sometimes associated with major aortapulmonary collateral arteries (MAPCAs). […] When native pulmonary circulation is underdeveloped, MAPCAs will arise (branch) from the aorta (the major blood vessel that takes blood from the heart to the rest of the body) to supply blood to the lungs.
#2 Single Ventricle Defects | American Heart Association
https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/single-ventricle-defects
In pulmonary atresia no pulmonary valve exists. Blood can’t flow from the right ventricle into the pulmonary artery and on to the lungs. The right ventricle and tricuspid valve are often poorly developed. […] In most children, the cause isn’t known. Some children can have other heart defects along with pulmonary atresia. […] An opening in the atrial septum lets blood exit the right atrium, so low-oxygen blood mixes with the oxygen-rich blood in the left atrium. […] If the PDA narrows or closes, the lung blood flow is reduced to critically low levels. This can cause very severe cyanosis. Symptoms may develop soon after birth. […] A more complete repair depends on the size of the pulmonary artery and right ventricle. If the pulmonary artery and right ventricle are very small, it may not be possible to correct the defect with surgery.
#2 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. […] It can be classified into three types: pulmonary atresia with intact interventricular septum (PA-IVS), pulmonary atresia with VSD (PA-VSD), and complex pulmonary atresia (pulmonary atresia with complex cardiac malformation). […] Tetralogy of Fallot: PA-VSD is considered by some authors as a severe form of tetralogy of Fallot. […] Truncus arteriosus (Collett and Edwards type IV) or pseudotruncus: recognized to be a form of PA-VSD rather than truncus arteriosus. […] Heterotaxy syndrome: pulmonary atresia is present in two-fifths of right isomerism cases.
#2 Ventricular Septal Defects: Background, Anatomy, Pathophysiology
https://emedicine.medscape.com/article/892980-overview
The incidence of VSD in siblings of patients with the same malformation is about three times that of the general population. VSDs have been reported in identical twins, but the frequency of discordance is high, even in identical twins. […] Familial congenital heart defects are often concordant by phenotype and developmental mechanism. Among cases with VSDs, previous occurrence of transposition, tetralogy of Fallot (TOF), and truncus arteriosus is higher than expected.
#2 Ventricular Septal Defects: Background, Anatomy, Pathophysiology
https://emedicine.medscape.com/article/892980-overview
For the purposes of etiologic analysis, clustering the defect types mentioned earlier (see Anatomy) according to potential pathogenic mechanisms is beneficial. The following pathologic classification allows comparison of similar defects: […] At present, a multifactorial etiology based on an interaction between hereditary predisposition and environmental influences is assumed to cause the defects. […] Maternal diabetes has long been recognized as a risk factor for congenital cardiovascular malformations (CCVMs). The risk of CCVMs remains high for infants of women with poorly controlled elevated phenylalanine levels. […] The single largest determinant in the BWIS data set is the presence of a genetic risk factor defined as a previous occurrence of a congenital cardiovascular defect in the family. A family history of a cardiac or noncardiac defect in either a parent or a preceding sibling is a major risk factor.
#2 Pulmonary atresia with ventricular septal defect: systematic review – Document – Gale OneFile: Health and Medicine
https://go.gale.com/ps/i.do?id=GALE%7CA366169426&sid=googleScholar&v=2.1&it=r&linkaccess=abs&issn=1995705X&p=HRCA&sw=w
Pulmonary atresia with ventricular septal defect (PA-VSD) is synonymous with Tetralogy of Fallot-pulmonary atresia and this defect may be considered as an extreme form of classic Tetralogy of Fallot. […] Genetic, environmental, and familial factors play a causative role in etiology of PA-VSD and therefore it remains multifactorial in nature. […] PA-VSD occurs more often with DiGeorge syndrome and associated with Chromosome 22q11 microdeletion. Other recognizable syndromes associated with this lesion include VACTER, CHARGE and Alagille syndromes. Chromosomal anomalies such as Trosomy 13, Trisomy 21 and Deletion 5p have also been reported in babies with PA-VSD. A ten-fold higher incidence of PA-VSD has been reported in infants of diabetic mothers compared to non-diabetic mothers and the incidence is 20-fold higher if diabetes was severe enough to need treatment with insulin. Maternal intake of benzodiazepines was associated with congenital heart disease with an Odds ratio of 2.15.
#3 Mayo Clinic Health Library – Pulmonary atresia with ventricular septal defect | Swiss Medical Network
https://www.swissmedical.net/en/healtcare-library/con-20380877
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. There also is a hole in the heart called a ventricular septal defect. […] In babies with pulmonary atresia, the lung arteries can be very small. Or they may be missing.
#3 Pulmonary atresia with ventricular septal defect: systematic review – Document – Gale OneFile: Health and Medicine
https://go.gale.com/ps/i.do?id=GALE%7CA366169426&sid=googleScholar&v=2.1&it=r&linkaccess=abs&issn=1995705X&p=HRCA&sw=w
Pulmonary atresia with ventricular septal defect (PA-VSD) is synonymous with Tetralogy of Fallot-pulmonary atresia and this defect may be considered as an extreme form of classic Tetralogy of Fallot. […] Genetic, environmental, and familial factors play a causative role in etiology of PA-VSD and therefore it remains multifactorial in nature. […] PA-VSD occurs more often with DiGeorge syndrome and associated with Chromosome 22q11 microdeletion. Other recognizable syndromes associated with this lesion include VACTER, CHARGE and Alagille syndromes. Chromosomal anomalies such as Trosomy 13, Trisomy 21 and Deletion 5p have also been reported in babies with PA-VSD. A ten-fold higher incidence of PA-VSD has been reported in infants of diabetic mothers compared to non-diabetic mothers and the incidence is 20-fold higher if diabetes was severe enough to need treatment with insulin. Maternal intake of benzodiazepines was associated with congenital heart disease with an Odds ratio of 2.15.
#3 Pulmonary Atresia With Ventricular Septal Defect | SCAI – Seconds Count
https://www.secondscount.org/condition/pulmonary-atresia-ventricular-septal-defect
Pulmonary atresia with ventricular septal defect (PA/VSD) occurs when theres a hole between the two bottom pumping chambers of the heart and theres no direct connection from the pumping chamber of the heart to the lung arteries. […] PA/VSD, along with tetralogy of Fallot, interrupted aortic arch (IAA), and truncus arteriosus may be associated with DiGeorge syndrome, which is a chromosomal abnormality caused by a missing section (deletion) of the 22nd chromosome. […] If MAPCAs exist, the options will be more complicated.
#3 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.
#3 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, aren’t entirely understood yet, but there’s 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. Notably, when Alagille syndrome occurs alongside PAVSD, the prognosis tends to be quite serious. […] 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 they’re often linked with other congenital defects as well.
#3 Pulmonary atresia with ventricular septal defect | UM Health-Sparrow
https://www.uofmhealthsparrow.org/departments-conditions/conditions/pulmonary-atresia-ventricular-septal-defect
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. The major blood vessels that run to and from the heart also begin to grow at this time. This is when a congenital heart defect such as pulmonary atresia may occur. […] In PA-VSD, the pulmonary valve isn’t fully formed. There also is a hole in the heart called a ventricular septal defect. The hole lets blood flow into and out of the right lower heart chamber. Some blood also may flow through a natural opening called the ductus arteriosus. The ductus arteriosus usually closes soon after birth. But medicines can keep it open. […] In babies with pulmonary atresia, the lung arteries can be very small. Or they may be missing. If the blood vessels are missing, other vessels form on the body’s main artery, called the aorta. These new vessels help send blood to the lungs. They are called major aortopulmonary collateral arteries, also called MAPCAs.
#3 Pulmonary Atresia And Pulmonary Stenosis
https://www.pediatriconcall.com/articles/pediatric-cardiology/pulmonary-atresia-and-pulmonary-stenosis/pulmonary-atresia-and-pulmonary-stenosis-introduction
Pulmonary atresia (PA) is hypoplasia and complete closure of the outflow part of the right ventricle and/or pulmonary artery and the crucial factor for the primary presentation and prognosis is the existence or non-existence of patent ductus arteriosis (PDA). […] Genetic, environmental, and familial factors are included in the multifactorial etiology of pulmonary atresia and stenosis. […] Pulmonary atresia with a ventricular septal defect is synonymous with an extreme form of Tetralogy of Fallot and Type IV truncus arteriosus or psueudotruncus. […] Newborns with PA and VSD are good in the first hours of life until ductus arteriosus closes. […] PA with the intact interventricular septum (IVS) is a very rare congenital heart defect.
#3 Ventricular Septal Defects: Background, Anatomy, Pathophysiology
https://emedicine.medscape.com/article/892980-overview
For the purposes of etiologic analysis, clustering the defect types mentioned earlier (see Anatomy) according to potential pathogenic mechanisms is beneficial. The following pathologic classification allows comparison of similar defects: […] At present, a multifactorial etiology based on an interaction between hereditary predisposition and environmental influences is assumed to cause the defects. […] Maternal diabetes has long been recognized as a risk factor for congenital cardiovascular malformations (CCVMs). The risk of CCVMs remains high for infants of women with poorly controlled elevated phenylalanine levels. […] The single largest determinant in the BWIS data set is the presence of a genetic risk factor defined as a previous occurrence of a congenital cardiovascular defect in the family. A family history of a cardiac or noncardiac defect in either a parent or a preceding sibling is a major risk factor.
#3
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.
#3 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.
#3 Partners in Care | Pulmonary Atresia With Ventricular Septal Defectâ¦
https://partnersincare.health/conditions/pulmonary-atresia-with-ventricular-septal-defect
PA with VSD can present in many different ways and is sometimes associated with major aortapulmonary collateral arteries (MAPCAs). […] When native pulmonary circulation is underdeveloped, MAPCAs will arise (branch) from the aorta (the major blood vessel that takes blood from the heart to the rest of the body) to supply blood to the lungs.
#4 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.