Wrodzone wady serca
Etiologia i przyczyny

Wrodzone wady serca (WWS) stanowią około 1% noworodków (8-9/1000 żywych urodzeń) i powstają w pierwszych 6-8 tygodniach ciąży na skutek nieprawidłowego rozwoju struktur serca. Etiologia jest w większości przypadków wieloczynnikowa, obejmująca interakcję czynników genetycznych (15-20% przypadków związanych z mutacjami genetycznymi lub aberracjami chromosomowymi, np. trisomia 21, 18, 13, zespół DiGeorge’a) oraz środowiskowych (cukrzyca matczyna, infekcje takie jak różyczka, ekspozycja na leki teratogenne, alkohol, tytoń). Dziedziczenie może mieć charakter autosomalnie dominujący z ryzykiem przekazania wady na poziomie 50%, a ryzyko wystąpienia WWS u kolejnego dziecka w rodzinie wynosi 1,5-5%. Najczęstsze wady to ubytek przegrody międzykomorowej (25%), ASD typu secundum (10%), przetrwały przewód tętniczy, tetralogia Fallota, koarktacja aorty i przełożenie wielkich naczyń. Wady dzieli się na sinicze i niesinicze w zależności od wpływu na saturację tlenem.

Wrodzone wady serca – Etiologia, przyczyny powstawania

Wrodzone wady serca (WWS) to problemy ze strukturą i funkcją serca, które są obecne już w momencie narodzin. Stanowią one najczęstszy typ wad wrodzonych, występując u około 1% noworodków (8-9 na 1000 żywych urodzeń), co przekłada się na około 40 000 nowych przypadków rocznie w Stanach Zjednoczonych.123 Wady te powstają na wczesnym etapie rozwoju płodu, zwykle w pierwszych 6-8 tygodniach ciąży, kiedy serce rozwija się z prostej rurkowatej struktury w w pełni ukształtowany narząd.45

Przyczyny idiopatyczne

W większości przypadków (około 80-90%) przyczyny wrodzonych wad serca pozostają nieznane.67 Naukowcy uważają, że wrodzone wady serca są najczęściej wynikiem złożonej interakcji między wieloma czynnikami genetycznymi i środowiskowymi (dziedziczenie wieloczynnikowe).89 Oznacza to, że kombinacja genów od obojga rodziców oraz nieznane czynniki środowiskowe wspólnie przyczyniają się do powstania wady.10

Wady wrodzone serca pojawiają się, gdy kluczowe etapy rozwoju serca nie przebiegają prawidłowo lub nie zachodzą we właściwej kolejności. Może to prowadzić do powstania pojedynczego naczynia krwionośnego tam, gdzie powinny być dwa naczynia, lub otworu między dwiema komorami serca, które powinny być oddzielone.11

Czynniki genetyczne

Około 15-20% wszystkich wrodzonych wad serca ma związek ze znanymi uwarunkowaniami genetycznymi.1213 Wady serca mogą występować rodzinnie, co sugeruje genetyczne podłoże niektórych z nich.1415 Badania wykazały, że ryzyko wystąpienia wrodzonej wady serca u dziecka wzrasta trzykrotnie, jeśli matka, ojciec lub rodzeństwo ma wadę serca.1617

Dziedziczenie wrodzonych wad serca może przebiegać różnymi drogami:18

  • Niektóre wady mają dziedziczenie autosomalnie dominujące, co oznacza, że rodzic z wadą ma 50% szans na przekazanie jej dziecku przy każdej ciąży
  • Jeśli matka ma wadę serca, ryzyko urodzenia dziecka z wadą waha się od 2,5% do 18%, ze średnim ryzykiem wynoszącym 6,7%
  • Jeśli jedno dziecko rodziców ma wadę serca, ryzyko wystąpienia wady u kolejnego dziecka wynosi od 1,5% do 5%, w zależności od rodzaju wady u pierwszego dziecka

19

Aberracje chromosomowe i zespoły genetyczne

Problemy z liczbą lub strukturą chromosomów często wiążą się ze zwiększonym ryzykiem wrodzonych wad serca. Około 5-8% wszystkich przypadków WWS jest związanych z nieprawidłowościami chromosomowymi.20 U dzieci z zaburzeniami chromosomowymi, około 30% będzie miało wadę serca.21

Do zespołów chromosomowych często powiązanych z wadami serca należą:2223

  • Zespół Downa (trisomia 21) – około 40-50% dzieci z zespołem Downa ma wadę serca
  • Trisomia 18 i trisomia 13 – bardzo wysoki odsetek wad serca (80-95%)
  • Zespół Turnera – często powiązany z koarktacją aorty
  • Zespół DiGeorge’a (22q11) – powiązany z wadami układu naczyniowego i serca
  • Zespół Williamsa
  • Zespół Cri-du-chat
  • Zespół Wolf-Hirschhorn

Ponadto, niektóre zespoły genetyczne spowodowane mutacjami pojedynczych genów również wiążą się ze zwiększonym ryzykiem wad serca:242526

  • Zespół Marfana
  • Zespół Smith-Lemli-Opitz
  • Zespół Ellis-van Creveld
  • Zespół Holt-Oram
  • Zespół Noonana
  • Mukopolisacharydozy
  • Zespół Alagille’a

Czynniki środowiskowe i matczyne

Niektóre wrodzone wady serca występują częściej, gdy matka w pierwszych tygodniach ciąży, kiedy rozwija się serce płodu, jest narażona na określone czynniki środowiskowe.27 Do najważniejszych czynników środowiskowych i matczynych, które mogą zwiększać ryzyko WWS, należą:

Choroby matki

Cukrzyca matczyna – kobiety z cukrzycą przedciążową mają znacznie wyższe ryzyko urodzenia dziecka z wadą serca.2829 Wysokie poziomy insuliny we krwi mogą zakłócać prawidłowy rozwój płodu.30 Istotne jest, aby cukrzyca była dobrze kontrolowana przed i w trakcie ciąży.31

Infekcje podczas ciąży – niektóre infekcje mogą wpływać na rozwój serca płodu:32

  • Różyczka (odra niemiecka) – zakażenie różyczką podczas pierwszego trymestru ciąży znacząco zwiększa ryzyko wad serca u dziecka3334
  • Grypa – kobiety, które przechodzą grypę w pierwszym trymestrze ciąży, mają większe ryzyko urodzenia dziecka z wadą serca35

Inne schorzenia matczyne, które mogą zwiększać ryzyko WWS:36

  • Toczeń rumieniowaty układowy
  • Choroby tkanki łącznej
  • Fenyloketonuria (PKU) – kobiety z PKU, które nie przestrzegają specjalnej diety podczas ciąży, mają większe ryzyko urodzenia dziecka z wadą serca37
  • Otyłość – zwiększa ryzyko wad serca, a im większa otyłość matki, tym większe ryzyko wad38
  • Stan przedrzucawkowy39
Używki i leki

Alkohol – spożywanie alkoholu podczas ciąży może mieć toksyczny wpływ na tkanki płodu i zwiększa ryzyko wad serca.4041 Dzieci z płodowym zespołem alkoholowym mogą mieć wrodzone wady serca, takie jak ubytki przegrody międzyprzedsionkowej lub międzykomorowej.42

Tytoń – palenie podczas ciąży zwiększa ryzyko wad serca u dziecka.4344

Leki – niektóre leki przyjmowane podczas ciąży mogą zwiększać ryzyko WWS:45

  • Leki przeciwpadaczkowe
  • Lit (używany w leczeniu depresji)
  • Izotretynoina (Akutitan, stosowana w leczeniu ciężkiego trądziku)
  • Niektóre leki na ciśnienie krwi i cholesterol
  • Talidomid
Inne czynniki

Do pozostałych czynników środowiskowych, które mogą mieć związek z rozwojem wrodzonych wad serca, należą:46

  • Rozpuszczalniki organiczne – narażenie matek na rozpuszczalniki organiczne może zwiększać ryzyko WWS
  • Wysokość nad poziomem morza – zamieszkiwanie na dużych wysokościach może wpływać na ryzyko niektórych wad serca, zwłaszcza przetrwałego przewodu tętniczego
  • Zanieczyszczenie powietrza i pestycydy
  • Fale upałów

47

Wiek matki – starsze kobiety są bardziej narażone na urodzenie dziecka z wadą serca.4849

Ciąża z technik wspomaganego rozrodu (ART) – może być związana ze zwiększonym ryzykiem WWS.50

Czynniki ochronne

Istnieją również czynniki, które mogą zmniejszać ryzyko wrodzonych wad serca:51

  • Suplementacja kwasu foliowego przed i na początku ciąży
  • Dieta bogata w witaminę B2 (ryboflawinę) i nikotynamid
  • Szczepienie przeciwko różyczce przed ciążą
  • Dobra kontrola glikemii u kobiet z cukrzycą

Najczęstsze typy wrodzonych wad serca

Wrodzone wady serca mogą obejmować problemy z różnymi częściami serca, w tym ścianami, zastawkami, komorami i naczyniami krwionośnymi.52 Mogą one powodować zaburzenia przepływu krwi, prowadząc do spowolnienia przepływu, przepływu krwi do niewłaściwych obszarów, przepływu w niewłaściwym kierunku, blokady lub niewystarczającego transportu tlenu.53

Najczęstsze typy wrodzonych wad serca to:5455

  • Ubytek przegrody międzykomorowej (VSD) – otwór w ścianie dzielącej dolne komory serca (25% przypadków)
  • Ubytek przegrody międzyprzedsionkowej (ASD) typu secundum (10% przypadków)
  • Przetrwały przewód tętniczy (PDA)
  • Tetralogia Fallota
  • Koarktacja aorty
  • Przełożenie wielkich naczyń

Wrodzone wady serca często kategoryzuje się jako sinicze lub niesinicze. Jeśli wada obniża ilość tlenu w organizmie, powodując sinienie skóry dziecka, jest określana jako sinicza. Jeśli wada nie wpływa na poziom tlenu, jest uważana za niesiniczą.56

Znaczenie wczesnej diagnostyki i badań genetycznych

Obecnie większość noworodków w krajach rozwiniętych jest badana pod kątem krytycznych wrodzonych wad serca.57 Wady serca mogą być również wykrywane przed urodzeniem podczas badań ultrasonograficznych płodu.58

Jeśli w rodzinie występują przypadki wrodzonych wad serca, zaleca się konsultację z doradcą genetycznym lub specjalistą genetykiem przed planowaniem ciąży.59 W rodzinach z WWS warto rozważyć wykonanie płodowej echokardiografii w drugim trymestrze ciąży, już od 16. tygodnia, aby wcześnie wykryć potencjalne wady serca u dziecka.60

Analiza chromosomów może być wykonana z małej próbki krwi u dziecka z WWS, aby sprawdzić, czy przyczyną problemu są zaburzenia chromosomowe.61 Postępy w technologii genetycznej umożliwiają lepsze zrozumienie uwarunkowań genetycznych WWS, co przekłada się na bardziej zindywidualizowane poradnictwo genetyczne dla pacjentów i ich rodzin.62

Rokowanie

Rokowanie u dzieci z wrodzonymi wadami serca znacznie się poprawiło w ostatnich dziesięcioleciach dzięki postępom w diagnostyce, leczeniu i opiece kardiologicznej. Współczynniki przeżycia dla pacjentów z wrodzonymi wadami serca są obecnie znacznie powyżej 90%.63

Niektóre łagodne wady mogą samoistnie się zamknąć lub zmniejszyć w miarę wzrostu dziecka, jak np. małe lub umiarkowane ubytki przegrody międzykomorowej.64 Inne wymagają jedynie monitorowania lub leczenia farmakologicznego, podczas gdy około jednej trzeciej niemowląt ma zagrażające życiu wady serca wymagające zabiegu chirurgicznego.65

Złożone wady mogą wymagać serii operacji, które są zwykle kończone, gdy dziecko ma około 3 lat.66 Pacjenci z wrodzonymi wadami serca wymagają regularnej, często całożyciowej opieki kardiologicznej, gdyż istnieje zwiększone ryzyko rozwinięcia innych problemów związanych z sercem, takich jak zaburzenia rytmu serca czy infekcje wsierdzia.67

Zapobieganie wrodzonym wadom serca

Chociaż nie ma sprawdzonych strategii całkowitego zapobiegania wrodzonym wadom serca, istnieją kroki, które kobiety mogą podjąć przed i podczas ciąży, aby zmniejszyć ryzyko:6869

  • Przyjmowanie kwasu foliowego i witamin prenatalnych przed i podczas ciąży
  • Upewnienie się, że szczepienie przeciwko różyczce zostało przeprowadzone przed ciążą
  • Utrzymywanie dobrej kontroli glikemii u kobiet z cukrzycą
  • Unikanie alkoholu, tytoniu i narkotyków podczas ciąży
  • Konsultacja z lekarzem w sprawie wszystkich przyjmowanych leków przed zajściem w ciążę
  • Prowadzenie zdrowego stylu życia, utrzymywanie prawidłowej masy ciała
  • Regularne wizyty przedporodowe

Podsumowując, etiologia wrodzonych wad serca jest złożona i w większości przypadków pozostaje niewyjaśniona. Naukowcy kontynuują badania, aby lepiej zrozumieć przyczyny i mechanizmy powstawania tych wad, co pozwoli na skuteczniejszą profilaktykę i leczenie. Warto podkreślić, że w większości przypadków wady serca występują sporadycznie i rodzice nie powinni obwiniać się za ich powstanie, gdyż najczęściej nie można było im zapobiec.7071

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

Materiały źródłowe

  • #1 Children’s Heart | About CHDs | Congenital Heart Defects
    https://www.childrensheartfoundation.org/about-chds/chd-facts.html
    Congenital heart defects (CHDs) are problems present at birth that affect the structure and function of the heart. […] Most causes of CHDs are unknown. Only 15-20% of all CHDs are related to known genetic conditions. […] Most CHDs are thought to be caused by a combination of genes and other risk factors, such as environmental exposures and maternal conditions. […] Environmental exposures that may be related to risk of having a CHD include the mothers diet and certain chemicals and medications. Maternal diabetes is a recognized cause of CHDs. […] A babys risk of having a CHD is increased by 3 times if the mother, father, or sibling has a CHD.
  • #2 About Congenital Heart Defects | Congenital Heart Defects (CHDs) | CDC
    https://www.cdc.gov/heart-defects/about/index.html
    Congenital heart defects affect how blood flows through the heart and out to the rest of the body. Congenital means they are present at birth. Heart defects can vary from mild (a small hole in the heart) to severe (missing parts of the heart). […] The causes of heart defects among most babies are unknown. Some babies have heart defects because of changes in their individual genes or chromosomes. A combination of genes, behaviors, and our environment may increase the risk for developing a heart defect. But we don’t fully understand how these factors might work together to cause heart defects. […] While we have more work to do, we have learned about factors that might increase the risk for heart defects. For example, the following has been linked to heart defects in babies: Certain conditions a mother has, like pre-existing diabetes or obesity, Smoking during pregnancy, Certain medications taken during pregnancy.
  • #3 Congenital Heart Defect Fact Sheets
    https://www.aap.org/en/patient-care/congenital-heart-defects/congenital-heart-defect-fact-sheets/?srsltid=AfmBOoqqAIgvQNNrHZyXDYsAtIZzX-b-56KQ4HOEkOyln3cUyuuRToKk
    Congenital heart defects (CHDs) are problems with the hearts structure that are present at birth. […] Most causes of CHDs are unknown. Only 15-20% of all CHDs are related to known genetic conditions. […] Most CHDs are thought to be caused by a combination of genes and other risk factors, such as environmental exposures and maternal conditions. […] Environmental exposures that may be related to risk of having a CHD include the mothers diet and certain chemicals and medications. Maternal diabetes is a recognized cause of CHDs. Maternal obesity, smoking and some infections also may raise the risk of having a baby with a CHD. […] A babys risk of having a CHD is increased by 3 times if the mother, father, or sibling has a CHD.
  • #4
    https://www.nhs.uk/conditions/congenital-heart-disease/causes/
    Congenital heart disease is caused when something disrupts the normal development of the heart. […] It’s thought that most cases occur when something affects the heart’s development during the first 6 weeks of pregnancy. This is when the heart is developing from a simple tube-like structure into a shape more like a fully formed heart. […] While some things are known to increase the risk of congenital heart disease, no obvious cause is identified in most cases. […] Several genetic health conditions that a baby inherits from 1 or both parents can cause congenital heart disease. […] It’s also recognised that certain types of congenital heart disease run in families. […] Down’s syndrome is the most widely-known genetic condition that can cause congenital heart disease. […] About half of all children with Down’s syndrome have congenital heart disease.
  • #5 Congenital Heart Disease | Causes, Types & Treatment
    https://www.cincinnatichildrens.org/health/c/congenital-heart-disease
    One out of every 100 infants born in the United States has a congenital (present at birth) heart defect. Heart defects occur as the babys heart is developing during pregnancy before the baby is born. Congenital heart defects are the most common birth defect. […] Congenital heart defects are a result of crucial development steps not occurring at the right time, or in the correct order. This means the child may be born with a single blood vessel where two vessels should be. Or there may be a hole between two heart chambers that should be separated. […] Most congenital heart defects have no known cause. Mothers (and fathers) often wonder if something they did during the pregnancy caused the heart problem. This is rarely the case. […] Some congenital heart defects do occur more often in families. This shows that there may be a genetic link.
  • #6 Factors Contributing to Congenital Heart Disease
    https://www.cincinnatichildrens.org/health/c/factors-chd
    A congenital heart defect (CHD) is a heart problem that is present at birth, caused by improper development of the heart during fetal development. […] In the majority of the instances when a baby is born with congenital heart disease, there is no known reason for the heart to have formed improperly. […] Scientists know that some types of congenital heart defects can be related to an abnormality of an infant’s chromosomes (5 percent to 6 percent), single gene defects (3 percent to 5 percent) or environmental factors (2 percent). […] In 85 percent to 90 percent of cases, there is no identifiable cause for the heart defect, and it is generally considered to be caused by multifactorial inheritance. Multifactorial inheritance means that „many factors” are involved in causing a birth defect. The factors are usually both genetic and environmental, where a combination of genes from both parents, in addition to unknown environmental factors, produce the trait or condition.
  • #7 Congenital heart disease | Better Health Channel
    https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/congenital-heart-disease
    Sometimes, during fetal development, the heart and blood vessels do not grow properly. […] In 8 out of 10 cases, the cause of heart defects at birth is unknown. […] In around 8 out of 10 cases, the reason for the congenital heart defect is unknown. Some of the known causes of CHD include: Genes 20 per cent of cases have a genetic cause. […] Maternal illness illness of the mother during pregnancy (for example, rubella now rare) may increase the risk of congenital heart disorders. […] Medication and drugs medication (over-the-counter or prescription) or illicit drugs taken by the mother during pregnancy may increase the risk of congenital heart disorders. […] Alcohol a mother who drinks large amounts of alcohol during pregnancy may increase the risk of congenital heart disorders. […] Maternal health factors such as unmanaged diabetes and poor nutrition during pregnancy may increase the risk. […] Maternal age babies of older women are more likely to have a birth defect than babies of younger women.
  • #8 Factors Contributing to Congenital Heart Disease
    https://www.cincinnatichildrens.org/health/c/factors-chd
    A congenital heart defect (CHD) is a heart problem that is present at birth, caused by improper development of the heart during fetal development. […] In the majority of the instances when a baby is born with congenital heart disease, there is no known reason for the heart to have formed improperly. […] Scientists know that some types of congenital heart defects can be related to an abnormality of an infant’s chromosomes (5 percent to 6 percent), single gene defects (3 percent to 5 percent) or environmental factors (2 percent). […] In 85 percent to 90 percent of cases, there is no identifiable cause for the heart defect, and it is generally considered to be caused by multifactorial inheritance. Multifactorial inheritance means that „many factors” are involved in causing a birth defect. The factors are usually both genetic and environmental, where a combination of genes from both parents, in addition to unknown environmental factors, produce the trait or condition.
  • #9 Understand Your Risk for Congenital Heart Defects | American Heart Association
    https://www.heart.org/en/health-topics/congenital-heart-defects/understand-your-risk-for-congenital-heart-defects
    Over 2.4 million Americans alive today have some form of congenital heart defect (CHD). About 40,000 children in the U.S. are born with a heart defect each year. Most of these children can be treated, even if the defect is severe. At least eight of every 1,000 infants born each year have a heart defect. […] The causes of congenital heart defects are still being researched, but scientists and physicians are making progress. […] The exact cause of most heart defects isn’t known. Although it’s presumed to be genetic, only a few genes have been linked to heart defects. That means heart defects are likely due to a combination of multiple genetic and environmental factors. […] Some people with congenital heart defects have a specific genetic condition that can include other health problems. They may or may not be aware that they have such a condition. […] Rarely, congenital heart defects are caused by changes in a single gene. Often, when this is the case, more than one person in the family has a heart defect. […] Heart defects can also be caused by something your mother was exposed to during pregnancy, such as an infection or a drug.
  • #10 Factors That May Lead to a Congenital Heart Defect (CHD)
    https://oumedicine.staywellsolutionsonline.com/Library/DiseasesConditions/Pediatric/90,P01788
    A congenital heart defect (CHD) is a heart problem that a baby has at birth. It is caused by abnormal formation of the heart during growth in the womb. In most cases, when a baby is born with a congenital heart defect, there is no known reason for it. Some types of congenital heart defects can be linked to an abnormality in the number of a baby’s chromosomes. They may be linked to single gene defects. Or they may be linked to environmental factors. In most cases, there is no clear cause that can be found for the heart defect. They are often thought to be caused by many factors. The factors are usually both genes and the environment. This means that genes from both parents plus unknown environmental factors lead to the problem. […] Most cases of congenital heart defect have no known cause. But some types of congenital heart defects occur more often when the birth parent comes in contact with some types of substances in the first few weeks of pregnancy. This is the time when the baby’s heart is growing. Some illnesses a mother may have or medicines for these illnesses can affect the heart’s growth. Other illnesses or medicines seem to have no effect on the baby’s heart.
  • #11 Congenital Heart Disease | Causes, Types & Treatment
    https://www.cincinnatichildrens.org/health/c/congenital-heart-disease
    One out of every 100 infants born in the United States has a congenital (present at birth) heart defect. Heart defects occur as the babys heart is developing during pregnancy before the baby is born. Congenital heart defects are the most common birth defect. […] Congenital heart defects are a result of crucial development steps not occurring at the right time, or in the correct order. This means the child may be born with a single blood vessel where two vessels should be. Or there may be a hole between two heart chambers that should be separated. […] Most congenital heart defects have no known cause. Mothers (and fathers) often wonder if something they did during the pregnancy caused the heart problem. This is rarely the case. […] Some congenital heart defects do occur more often in families. This shows that there may be a genetic link.
  • #12 Children’s Heart | About CHDs | Congenital Heart Defects
    https://www.childrensheartfoundation.org/about-chds/chd-facts.html
    Congenital heart defects (CHDs) are problems present at birth that affect the structure and function of the heart. […] Most causes of CHDs are unknown. Only 15-20% of all CHDs are related to known genetic conditions. […] Most CHDs are thought to be caused by a combination of genes and other risk factors, such as environmental exposures and maternal conditions. […] Environmental exposures that may be related to risk of having a CHD include the mothers diet and certain chemicals and medications. Maternal diabetes is a recognized cause of CHDs. […] A babys risk of having a CHD is increased by 3 times if the mother, father, or sibling has a CHD.
  • #13 Congenital Heart Defect Fact Sheets
    https://www.aap.org/en/patient-care/congenital-heart-defects/congenital-heart-defect-fact-sheets/?srsltid=AfmBOoqqAIgvQNNrHZyXDYsAtIZzX-b-56KQ4HOEkOyln3cUyuuRToKk
    Congenital heart defects (CHDs) are problems with the hearts structure that are present at birth. […] Most causes of CHDs are unknown. Only 15-20% of all CHDs are related to known genetic conditions. […] Most CHDs are thought to be caused by a combination of genes and other risk factors, such as environmental exposures and maternal conditions. […] Environmental exposures that may be related to risk of having a CHD include the mothers diet and certain chemicals and medications. Maternal diabetes is a recognized cause of CHDs. Maternal obesity, smoking and some infections also may raise the risk of having a baby with a CHD. […] A babys risk of having a CHD is increased by 3 times if the mother, father, or sibling has a CHD.
  • #14 Congenital heart defects in children – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/congenital-heart-defects-children/symptoms-causes/syc-20350074
    Some medicines. Taking certain medicines during pregnancy can cause congenital heart disease and other health problems present at birth. […] Drinking alcohol during pregnancy increases the risk of congenital heart defects in the baby. […] Smoking during pregnancy increases the risk of congenital heart defects in the baby. […] Genetics. Congenital heart defects appear to run in families, which means they are inherited. Changes in genes have been linked to heart problems present at birth.
  • #15
    https://www.nhs.uk/conditions/congenital-heart-disease/causes/
    Congenital heart disease is caused when something disrupts the normal development of the heart. […] It’s thought that most cases occur when something affects the heart’s development during the first 6 weeks of pregnancy. This is when the heart is developing from a simple tube-like structure into a shape more like a fully formed heart. […] While some things are known to increase the risk of congenital heart disease, no obvious cause is identified in most cases. […] Several genetic health conditions that a baby inherits from 1 or both parents can cause congenital heart disease. […] It’s also recognised that certain types of congenital heart disease run in families. […] Down’s syndrome is the most widely-known genetic condition that can cause congenital heart disease. […] About half of all children with Down’s syndrome have congenital heart disease.
  • #16 Children’s Heart | About CHDs | Congenital Heart Defects
    https://www.childrensheartfoundation.org/about-chds/chd-facts.html
    Congenital heart defects (CHDs) are problems present at birth that affect the structure and function of the heart. […] Most causes of CHDs are unknown. Only 15-20% of all CHDs are related to known genetic conditions. […] Most CHDs are thought to be caused by a combination of genes and other risk factors, such as environmental exposures and maternal conditions. […] Environmental exposures that may be related to risk of having a CHD include the mothers diet and certain chemicals and medications. Maternal diabetes is a recognized cause of CHDs. […] A babys risk of having a CHD is increased by 3 times if the mother, father, or sibling has a CHD.
  • #17 Congenital Heart Defect Fact Sheets
    https://www.aap.org/en/patient-care/congenital-heart-defects/congenital-heart-defect-fact-sheets/?srsltid=AfmBOoqqAIgvQNNrHZyXDYsAtIZzX-b-56KQ4HOEkOyln3cUyuuRToKk
    Congenital heart defects (CHDs) are problems with the hearts structure that are present at birth. […] Most causes of CHDs are unknown. Only 15-20% of all CHDs are related to known genetic conditions. […] Most CHDs are thought to be caused by a combination of genes and other risk factors, such as environmental exposures and maternal conditions. […] Environmental exposures that may be related to risk of having a CHD include the mothers diet and certain chemicals and medications. Maternal diabetes is a recognized cause of CHDs. Maternal obesity, smoking and some infections also may raise the risk of having a baby with a CHD. […] A babys risk of having a CHD is increased by 3 times if the mother, father, or sibling has a CHD.
  • #18 Factors That May Lead to a Congenital Heart Defect (CHD)
    https://healthlibrary.ecuhealth.org/library/diseasesconditions/Pediatric/NormalNewborn/90,P01788
    Counseling is important for people with chronic illnesses before becoming pregnant. Always talk with your healthcare provider before taking any medicines while you are pregnant. […] Rubella is known to cause birth defects. Rubella is a virus that most people in the U.S. are protected from when they get the measles, mumps, and rubella (MMR) vaccine. A person who has never had rubella or the vaccine should talk with their healthcare provider before becoming pregnant. A person who has rubella during their pregnancy has a very high chance of having a baby with birth defects, including CHD. […] Family history and CHDs About 1 in 100 children are born with a congenital heart defect each year. There is an overall 3 times increased risk for CHD when a first-degree relative has a CHD. […] Some heart defects have autosomal-dominant inheritance. This means that with each pregnancy, a parent with the defect has a 1 in 2 chance of having a child with the same heart defect. Males and females are equally affected. There is also a 1 in 2 chance that a baby will not be affected.
  • #19 Factors Contributing to Congenital Heart Disease
    https://www.cincinnatichildrens.org/health/c/factors-chd
    In the general population, about 1 percent of all children are born with congenital heart disease. However, the risk increases when either parent has congenital heart disease (CHD), or when another sibling was born with CHD. […] If you have had one child with congenital heart disease, the chance that another child will be born with CHD ranges from 1.5 percent to 5 percent, depending on the type of CHD in the first child. […] If the mother has CHD, the risk for a child to be born with CHD ranges from 2.5 percent to 18 percent, with an average risk of 6.7 percent. […] Problems with chromosomes that result in genetic syndromes, such as Down syndrome, often result in a higher incidence of infant heart malformations. […] Five percent to 8 percent of all babies with CHD have a chromosome abnormality.
  • #20 Factors Contributing to Congenital Heart Disease
    https://www.cincinnatichildrens.org/health/c/factors-chd
    In the general population, about 1 percent of all children are born with congenital heart disease. However, the risk increases when either parent has congenital heart disease (CHD), or when another sibling was born with CHD. […] If you have had one child with congenital heart disease, the chance that another child will be born with CHD ranges from 1.5 percent to 5 percent, depending on the type of CHD in the first child. […] If the mother has CHD, the risk for a child to be born with CHD ranges from 2.5 percent to 18 percent, with an average risk of 6.7 percent. […] Problems with chromosomes that result in genetic syndromes, such as Down syndrome, often result in a higher incidence of infant heart malformations. […] Five percent to 8 percent of all babies with CHD have a chromosome abnormality.
  • #21 Factors That May Lead to a Congenital Heart Defect (CHD) – Stanford Medicine Children’s Health
    https://www.stanfordchildrens.org/en/topic/default?id=factors-that-may-lead-to-a-congenital-heart-defect-chd-90-P01788
    Rubella is known to cause birth defects. A mother who has rubella during her pregnancy has a very high chance of having a baby with birth defects, including CHD. […] About 1% of all children are born with a congenital heart defect. There is an overall 3 times increased risk for CHD when a first-degree relative has a CHD. […] Problems with chromosomes that lead to genetic syndromes, such as Down syndrome, often result in a higher risk of heart problems in babies. In babies with chromosome abnormalities, around 30% will have a heart defect. […] There are a number of chromosome problems linked with CHD. Some of these include: Down syndrome (trisomy 21), Trisomy 18 and trisomy 13, Williams syndrome, Turner’s syndrome, Cri-du-chat syndrome, Wolf-Hirshhorn syndrome, DiGeorge syndrome (22q11).
  • #22 Factors That May Lead to a Congenital Heart Defect (CHD) – Stanford Medicine Children’s Health
    https://www.stanfordchildrens.org/en/topic/default?id=factors-that-may-lead-to-a-congenital-heart-defect-chd-90-P01788
    Rubella is known to cause birth defects. A mother who has rubella during her pregnancy has a very high chance of having a baby with birth defects, including CHD. […] About 1% of all children are born with a congenital heart defect. There is an overall 3 times increased risk for CHD when a first-degree relative has a CHD. […] Problems with chromosomes that lead to genetic syndromes, such as Down syndrome, often result in a higher risk of heart problems in babies. In babies with chromosome abnormalities, around 30% will have a heart defect. […] There are a number of chromosome problems linked with CHD. Some of these include: Down syndrome (trisomy 21), Trisomy 18 and trisomy 13, Williams syndrome, Turner’s syndrome, Cri-du-chat syndrome, Wolf-Hirshhorn syndrome, DiGeorge syndrome (22q11).
  • #23 Factors That May Lead to a Congenital Heart Defect (CHD)
    https://oumedicine.staywellsolutionsonline.com/Library/DiseasesConditions/Pediatric/90,P01788
    Rubella is known to cause birth defects. A person who has rubella during their pregnancy has a very high chance of having a baby with birth defects, including CHD. […] About 1 in 100 children are born with a congenital heart defect each year. There is an overall 3 times increased risk for CHD when a first-degree relative has a CHD. […] Problems with chromosomes that lead to genetic syndromes, such as Down syndrome, often result in a higher risk of heart problems in babies. In babies with chromosome abnormalities, around 3 in 10 will have a heart defect. […] There are a number of chromosome problems linked with CHD. Some of these include: Down syndrome (trisomy 21), Trisomy 18 and trisomy 13, Williams syndrome, Turner syndrome, Cri-du-chat syndrome, Wolf-Hirschhorn syndrome, DiGeorge syndrome (22q11).
  • #24 Factors Contributing to Congenital Heart Disease
    https://www.cincinnatichildrens.org/health/c/factors-chd
    Several health problems with one genetic cause are often referred to as a syndrome. Some of the genetic syndromes associated with a higher incidence of heart defects include: Marfan syndrome, Smith-Lemli-Opitz syndrome, Ellis-van Creveld, Holt-Oram syndrome, Noonan syndrome, Mucopolysaccharidoses. […] If a child has been diagnosed with a chromosomal or other genetic abnormality, genetic counseling is helpful to determine the risk of heart defects occurring in future children.
  • #25 Factors That May Lead to a Congenital Heart Defect (CHD) – Stanford Medicine Children’s Health
    https://www.stanfordchildrens.org/en/topic/default?id=factors-that-may-lead-to-a-congenital-heart-defect-chd-90-P01788
    When a single gene is changed, a number of health problems may occur. When several health problems occur from 1 genetic cause, its called a syndrome. Some of the genetic syndromes that have a higher rate of heart defects include: Marfan syndrome, Smith-Lemli-Opitz syndrome, Ellis-van Creveld syndrome, Holt-Oram syndrome, Noonan syndrome, Mucopolysaccharidoses, Alagille syndrome.
  • #26 Factors That May Lead to a Congenital Heart Defect (CHD)
    https://oumedicine.staywellsolutionsonline.com/Library/DiseasesConditions/Pediatric/90,P01788
    When a single gene is changed, a number of health problems may occur. When several health problems occur from one genetic cause, it’s called a syndrome. Some of the genetic syndromes that have a higher rate of heart defects include: Marfan syndrome, Smith-Lemli-Opitz syndrome, Ellis-van Creveld syndrome, Holt-Oram syndrome, Noonan syndrome, Mucopolysaccharidoses, Alagille syndrome.
  • #27 Factors Contributing to Congenital Heart Disease
    https://www.cincinnatichildrens.org/health/c/factors-chd
    However, some types of congenital heart defects are known to occur more often when the mother comes in contact with certain substances during the first few weeks of pregnancy, while the baby’s heart is developing. […] Some maternal illnesses and medications taken for these illnesses have been shown to affect the heart’s development. […] Women who have seizure disorders and need to take anti-seizure medications may have a higher risk for having a child with congenital heart disease, as do women who take lithium to treat depression. […] Mothers who have phenylketonuria (PKU) who do not adhere to the special diet necessary to manage the disease during pregnancy have a higher risk of having a child with congenital heart disease. […] Also, women with insulin-dependent diabetes (particularly if the diabetes is not well-controlled) or lupus may have a higher risk of having a child with heart defects.
  • #28 Children’s Heart | About CHDs | Congenital Heart Defects
    https://www.childrensheartfoundation.org/about-chds/chd-facts.html
    Congenital heart defects (CHDs) are problems present at birth that affect the structure and function of the heart. […] Most causes of CHDs are unknown. Only 15-20% of all CHDs are related to known genetic conditions. […] Most CHDs are thought to be caused by a combination of genes and other risk factors, such as environmental exposures and maternal conditions. […] Environmental exposures that may be related to risk of having a CHD include the mothers diet and certain chemicals and medications. Maternal diabetes is a recognized cause of CHDs. […] A babys risk of having a CHD is increased by 3 times if the mother, father, or sibling has a CHD.
  • #29
    https://www.nhs.uk/conditions/congenital-heart-disease/causes/
    Women with diabetes have a higher risk of giving birth to a baby with congenital heart disease than women who don’t have diabetes. […] The increased risk is thought to be caused by high levels of the hormone insulin in the blood, which may interfere with the normal development of a foetus. […] If a pregnant woman drinks too much alcohol during pregnancy, it can have a poisonous effect on the tissue of the foetus. […] Children with foetal alcohol spectrum disorder can have congenital heart disease, such as atrial or ventricular septal defects. […] A rubella infection can cause multiple birth defects, including congenital heart disease. […] Women who get flu during the first trimester of pregnancy are at greater risk of having a baby with congenital heart disease than the general population.
  • #30
    https://www.nhs.uk/conditions/congenital-heart-disease/causes/
    Women with diabetes have a higher risk of giving birth to a baby with congenital heart disease than women who don’t have diabetes. […] The increased risk is thought to be caused by high levels of the hormone insulin in the blood, which may interfere with the normal development of a foetus. […] If a pregnant woman drinks too much alcohol during pregnancy, it can have a poisonous effect on the tissue of the foetus. […] Children with foetal alcohol spectrum disorder can have congenital heart disease, such as atrial or ventricular septal defects. […] A rubella infection can cause multiple birth defects, including congenital heart disease. […] Women who get flu during the first trimester of pregnancy are at greater risk of having a baby with congenital heart disease than the general population.
  • #31 Congenital heart disease: current knowledge about causes and inheritance | The Medical Journal of Australia
    https://www.mja.com.au/journal/2012/197/3/congenital-heart-disease-current-knowledge-about-causes-and-inheritance
    The contribution of specific environmental exposures to the causation of CHD in general is unknown, as most associations have been derived from small observational studies. […] The best documented maternal risk factor is maternal diabetes, with a reported fivefold increased risk of CHD from pregestational diabetes. […] Strict glycaemic control before conception and during pregnancy has been reported to reduce the risk of infants developing CHD. […] Despite the inconclusive evidence reported, it seems reasonable to suggest a few basic recommendations aimed at minimising possible CHD risk factors for women who are or intend to become pregnant. […] In a minority of cases, it is possible to provide a precise recurrence risk for CHD, based on known Mendelian inheritance in a family or on risk figures related to a chromosomal anomaly.
  • #32 Congenital heart defects in children – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/congenital-heart-defects-children/symptoms-causes/syc-20350074
    A congenital heart defect is a problem with the structure of the heart that a child is born with. […] Congenital heart disease, also called a defect, refers to one or more problems with the heart structure that are present at birth. These abnormalities occur when the heart or blood vessels don’t form correctly in utero. […] Researchers aren’t sure what causes most types of congenital heart defects. They think that gene changes, certain medicines or health conditions, and environmental or lifestyle factors, such as smoking, may play a role. […] The exact cause of most congenital heart defects is unknown. But some risk factors have been identified. […] Risk factors for congenital heart defects include: Rubella, also called German measles. Having rubella during pregnancy can cause changes in a baby’s heart development.
  • #33 Factors That May Lead to a Congenital Heart Defect (CHD) – Stanford Medicine Children’s Health
    https://www.stanfordchildrens.org/en/topic/default?id=factors-that-may-lead-to-a-congenital-heart-defect-chd-90-P01788
    Rubella is known to cause birth defects. A mother who has rubella during her pregnancy has a very high chance of having a baby with birth defects, including CHD. […] About 1% of all children are born with a congenital heart defect. There is an overall 3 times increased risk for CHD when a first-degree relative has a CHD. […] Problems with chromosomes that lead to genetic syndromes, such as Down syndrome, often result in a higher risk of heart problems in babies. In babies with chromosome abnormalities, around 30% will have a heart defect. […] There are a number of chromosome problems linked with CHD. Some of these include: Down syndrome (trisomy 21), Trisomy 18 and trisomy 13, Williams syndrome, Turner’s syndrome, Cri-du-chat syndrome, Wolf-Hirshhorn syndrome, DiGeorge syndrome (22q11).
  • #34 Etiology of Congenital Heart Disease | SpringerLink
    https://link.springer.com/chapter/10.1007/978-1-4471-1814-5_1
    The care of children with congenital heart defects has undergone remarkable change during the past 30 years. […] Interest is now focused on etiology, specifically, information which would aid counselling, prenatal diagnosis and ultimately, prevention of births of children with congenital heart disease. […] Nora JJ (1971) Etiologic factors in congenital heart disease. […] Nora JJ (1983) Etiologic aspects of heart disease. […] Nora JJ, Nora AH (1983) Genetic epidemiology of congenital heart diseases. […] Nora JJ, Nora AH (1987) Maternal transmission of congenital heart diseases: new recurrence risk figures and question of cytoplasmic inheritance and vulnerability to teratogens.
  • #35
    https://www.nhs.uk/conditions/congenital-heart-disease/causes/
    Women with diabetes have a higher risk of giving birth to a baby with congenital heart disease than women who don’t have diabetes. […] The increased risk is thought to be caused by high levels of the hormone insulin in the blood, which may interfere with the normal development of a foetus. […] If a pregnant woman drinks too much alcohol during pregnancy, it can have a poisonous effect on the tissue of the foetus. […] Children with foetal alcohol spectrum disorder can have congenital heart disease, such as atrial or ventricular septal defects. […] A rubella infection can cause multiple birth defects, including congenital heart disease. […] Women who get flu during the first trimester of pregnancy are at greater risk of having a baby with congenital heart disease than the general population.
  • #36 Factors That May Lead to a Congenital Heart Defect (CHD)
    https://healthlibrary.ecuhealth.org/library/diseasesconditions/Pediatric/NormalNewborn/90,P01788
    Birth parent factors and CHDs Most cases of congenital heart defect have no known cause. But some types of congenital heart defects occur more often when the birth parent comes in contact with some types of substances in the first few weeks of pregnancy. This is the time when the baby’s heart is growing. Some illnesses a mother may have or medicines for these illnesses can affect the heart’s growth. Other illnesses or medicines seem to have no effect on the baby’s heart. Always talk to your healthcare provider for more information. […] These things can lead to a higher risk of a birth parent having a child with CHD: Seizure disorder and the need to take antiseizure medicines […] Taking lithium to treat depression […] Having phenylketonuria (PKU) and not staying on the special PKU diet during pregnancy […] Insulin-dependent diabetes, especially if blood sugar is not well-controlled […] Lupus […] A connective tissue disorder […] A pregnancy from assisted reproductive technology (ART).
  • #37
    https://www.nhs.uk/conditions/congenital-heart-disease/causes/
    There are several medicines linked to an increased risk of a baby being born with congenital heart disease. […] Pregnant mothers with PKU who don’t do this are more likely to give birth to a baby with congenital heart disease than the general population. […] Women who are exposed to some organic solvents may be more likely to give birth to a baby with congenital heart disease than the general population.
  • #38 Congenital heart defect – Wikipedia
    https://en.wikipedia.org/wiki/Congenital_heart_defect
    A congenital heart defect (CHD), also known as a congenital heart anomaly, congenital cardiovascular malformation, and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. The cause of a congenital heart defect is often unknown. Risk factors include certain infections during pregnancy such as rubella, use of certain medications or drugs such as alcohol or tobacco, parents being closely related, or poor nutritional status or obesity in the mother. Having a parent with a congenital heart defect is also a risk factor. A number of genetic conditions are associated with heart defects, including Down syndrome, Turner syndrome, and Marfan syndrome. […] The cause of congenital heart disease may be genetic, environmental, or a combination of both. Genetic mutations, often sporadic, represent the largest known cause of congenital heart defects. Known environmental factors include certain infections during pregnancy such as rubella, drugs (alcohol, hydantoin, lithium and thalidomide) and maternal illness (diabetes mellitus, phenylketonuria, and systemic lupus erythematosus). Being overweight or obese increases the risk of congenital heart disease. Additionally, as maternal obesity increases, the risk of heart defects also increases. […] Congenital heart defects happen more often in twins than in single babies. Monochorionic twins, who share a placenta, have a greater risk of these heart defects compared to dichorionic twins, who have their own placentas.
  • #39 Congenital heart disease • Heart Research Institute
    https://www.hri.org.au/health/learn/cardiovascular-disease/congenital-heart-disease
    Congenital heart defects in CHD occur due to the heart not developing normally while the baby is in the womb. The defects can involve the walls and valves of the heart, as well as the arteries and veins near the heart. There is no known reason for CHD in most cases, although a combination of genetic and environmental factors in thought to play a part, as does family history. […] Risk factors include the following. […] Diabetes: Women with diabetes have a higher risk of giving birth to a baby with CHD than women who do not. This increased risk could be due to high levels of insulin (a hormone) in the blood, which may interfere with the normal development of the baby in the womb. […] Overweight and obesity: The mother being above a healthy weight can play a part in CHD risk. […] Preeclampsia: Having this high blood pressure condition during pregnancy can increase the risk of CHD.
  • #40 Congenital heart defects in children – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/congenital-heart-defects-children/symptoms-causes/syc-20350074
    Some medicines. Taking certain medicines during pregnancy can cause congenital heart disease and other health problems present at birth. […] Drinking alcohol during pregnancy increases the risk of congenital heart defects in the baby. […] Smoking during pregnancy increases the risk of congenital heart defects in the baby. […] Genetics. Congenital heart defects appear to run in families, which means they are inherited. Changes in genes have been linked to heart problems present at birth.
  • #41
    https://www.nhs.uk/conditions/congenital-heart-disease/causes/
    Women with diabetes have a higher risk of giving birth to a baby with congenital heart disease than women who don’t have diabetes. […] The increased risk is thought to be caused by high levels of the hormone insulin in the blood, which may interfere with the normal development of a foetus. […] If a pregnant woman drinks too much alcohol during pregnancy, it can have a poisonous effect on the tissue of the foetus. […] Children with foetal alcohol spectrum disorder can have congenital heart disease, such as atrial or ventricular septal defects. […] A rubella infection can cause multiple birth defects, including congenital heart disease. […] Women who get flu during the first trimester of pregnancy are at greater risk of having a baby with congenital heart disease than the general population.
  • #42
    https://www.nhs.uk/conditions/congenital-heart-disease/causes/
    Women with diabetes have a higher risk of giving birth to a baby with congenital heart disease than women who don’t have diabetes. […] The increased risk is thought to be caused by high levels of the hormone insulin in the blood, which may interfere with the normal development of a foetus. […] If a pregnant woman drinks too much alcohol during pregnancy, it can have a poisonous effect on the tissue of the foetus. […] Children with foetal alcohol spectrum disorder can have congenital heart disease, such as atrial or ventricular septal defects. […] A rubella infection can cause multiple birth defects, including congenital heart disease. […] Women who get flu during the first trimester of pregnancy are at greater risk of having a baby with congenital heart disease than the general population.
  • #43 Congenital heart defects in children – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/congenital-heart-defects-children/symptoms-causes/syc-20350074
    Some medicines. Taking certain medicines during pregnancy can cause congenital heart disease and other health problems present at birth. […] Drinking alcohol during pregnancy increases the risk of congenital heart defects in the baby. […] Smoking during pregnancy increases the risk of congenital heart defects in the baby. […] Genetics. Congenital heart defects appear to run in families, which means they are inherited. Changes in genes have been linked to heart problems present at birth.
  • #44 Five abnormal signs that might indicate heart disease in the kids | Bangkok Heart Hospital
    https://www.bangkokhospital.com/en/bangkok-heart/content/five-abnormal-signs-that-might-indicate-heart-disease-in-the-kids
    Heart disease does not only occur in adults and the elderly, newborn babies and kids can also develop cardiac disease. Some congenital heart defects in children are simple and treatments are not necessarily required. Other congenital heart defects in children seem to be more complex and may require several surgeries performed over a period of several years. Serious congenital heart defects are often diagnosed before or soon after the child is born. […] The causes of pediatric heart disease can be divided into 2 main categories: […] Congenital heart defects in children. During the first six weeks of pregnancy, the heart of the fetus begins taking shape and starts beating. The major blood vessels that reach to and run from the heart also begin to develop during this critical time of the gestation. At this point, the heart defects may begin to develop. Contributing factors might include genetics, certain medical conditions, some medications and environmental factors such as smoking. The statistical data reveals that the average incidence rate of congenital heart defects reported in different studies is up to 8 per 1000 live births. Serious congenital heart defects are often diagnosed before or soon after the baby is born.
  • #45
    https://www.nhs.uk/conditions/congenital-heart-disease/causes/
    There are several medicines linked to an increased risk of a baby being born with congenital heart disease. […] Pregnant mothers with PKU who don’t do this are more likely to give birth to a baby with congenital heart disease than the general population. […] Women who are exposed to some organic solvents may be more likely to give birth to a baby with congenital heart disease than the general population.
  • #46
    https://www.nhs.uk/conditions/congenital-heart-disease/causes/
    There are several medicines linked to an increased risk of a baby being born with congenital heart disease. […] Pregnant mothers with PKU who don’t do this are more likely to give birth to a baby with congenital heart disease than the general population. […] Women who are exposed to some organic solvents may be more likely to give birth to a baby with congenital heart disease than the general population.
  • #47 Congenital heart disease | Heart and Stroke Foundation
    https://www.heartandstroke.ca/heart-disease/conditions/congenital-heart-disease
    Congenital heart disease is a heart condition you are born with. The word congenital means present at birth. Congenital heart disease can range from very minor conditions which never cause problems, to more serious conditions that require treatment. […] A congenital heart defect happens when the chambers, walls or valves of your heart or the blood vessels near the heart dont develop normally before birth. […] In many cases, the cause of congenital heart disease is unknown. However, known causes include: exposure of the fetus to maternal illnesses such as diabetes, German measles (rubella), fever illnesses and issues with metabolizing an amino acid during pregnancy (phenylketonuria), smoking, alcohol or recreational drug use during pregnancy, certain therapeutic drugs, such as thalidomide, environmental factors like air pollution, pesticides and extreme heat waves, specific inherited genetic defects and chromosomal abnormalities. […] Diets rich in folic acid, vitamin B2, riboflavin and nicotinamide have been shown to help protect unborn children from congenital heart disease.
  • #48 Congenital heart disease | Better Health Channel
    https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/congenital-heart-disease
    Sometimes, during fetal development, the heart and blood vessels do not grow properly. […] In 8 out of 10 cases, the cause of heart defects at birth is unknown. […] In around 8 out of 10 cases, the reason for the congenital heart defect is unknown. Some of the known causes of CHD include: Genes 20 per cent of cases have a genetic cause. […] Maternal illness illness of the mother during pregnancy (for example, rubella now rare) may increase the risk of congenital heart disorders. […] Medication and drugs medication (over-the-counter or prescription) or illicit drugs taken by the mother during pregnancy may increase the risk of congenital heart disorders. […] Alcohol a mother who drinks large amounts of alcohol during pregnancy may increase the risk of congenital heart disorders. […] Maternal health factors such as unmanaged diabetes and poor nutrition during pregnancy may increase the risk. […] Maternal age babies of older women are more likely to have a birth defect than babies of younger women.
  • #49 Congenital heart disease • Heart Research Institute
    https://www.hri.org.au/health/learn/cardiovascular-disease/congenital-heart-disease
    Age: Older women are more likely to have a baby with CHD than younger women. […] Genetics are a factor in CHD, with family history playing a key role. […] If either parent has CHD, the risk of CHD increases in a pregnancy. The risk is slightly higher if the mother is the affected parent. […] If one child of the parents has CHD and no other family members have it, the risk of CHD occurring in a future pregnancy is only slightly above the risk in the general population. […] If more than one child of the parents has CHD, the risk of having another child with CHD is increased.
  • #50 Factors That May Lead to a Congenital Heart Defect (CHD)
    https://healthlibrary.ecuhealth.org/library/diseasesconditions/Pediatric/NormalNewborn/90,P01788
    Birth parent factors and CHDs Most cases of congenital heart defect have no known cause. But some types of congenital heart defects occur more often when the birth parent comes in contact with some types of substances in the first few weeks of pregnancy. This is the time when the baby’s heart is growing. Some illnesses a mother may have or medicines for these illnesses can affect the heart’s growth. Other illnesses or medicines seem to have no effect on the baby’s heart. Always talk to your healthcare provider for more information. […] These things can lead to a higher risk of a birth parent having a child with CHD: Seizure disorder and the need to take antiseizure medicines […] Taking lithium to treat depression […] Having phenylketonuria (PKU) and not staying on the special PKU diet during pregnancy […] Insulin-dependent diabetes, especially if blood sugar is not well-controlled […] Lupus […] A connective tissue disorder […] A pregnancy from assisted reproductive technology (ART).
  • #51 Congenital heart disease | Heart and Stroke Foundation
    https://www.heartandstroke.ca/heart-disease/conditions/congenital-heart-disease
    Congenital heart disease is a heart condition you are born with. The word congenital means present at birth. Congenital heart disease can range from very minor conditions which never cause problems, to more serious conditions that require treatment. […] A congenital heart defect happens when the chambers, walls or valves of your heart or the blood vessels near the heart dont develop normally before birth. […] In many cases, the cause of congenital heart disease is unknown. However, known causes include: exposure of the fetus to maternal illnesses such as diabetes, German measles (rubella), fever illnesses and issues with metabolizing an amino acid during pregnancy (phenylketonuria), smoking, alcohol or recreational drug use during pregnancy, certain therapeutic drugs, such as thalidomide, environmental factors like air pollution, pesticides and extreme heat waves, specific inherited genetic defects and chromosomal abnormalities. […] Diets rich in folic acid, vitamin B2, riboflavin and nicotinamide have been shown to help protect unborn children from congenital heart disease.
  • #52 Congenital Heart Defects and What Causes Them –
    https://www.carnegieimaging.com/blog/congenital-heart-defects-and-what-causes-them/
    Heart complications can take a serious toll on your health even when you’re an adult. Babies born with heart defects can face an uphill battle when it comes to remaining healthy throughout life, meaning it’s important to set your child up for success by preventing heart defects and ensuring they have the care they need. Here’s what to know about congenital heart defects and what you can do about them. […] Congenital heart defects (CHDs) are heart conditions that are present at birth. They can be serious or mild, but nearly 1 in 100 babies are born with CHDs, making it the most common birth defect. CHDs that are serious are called critical congenital heart defects. Heart defects can affect many different areas of the heart, including the heart chambers, the septum (the wall that divides the two halves of the heart), the heart valves, and the nearby arteries and veins. In some cases, CHDs can affect your baby’s blood flow, causing it to slow down, flow to the wrong areas, flow in the wrong direction, be blocked, or be insufficient at carrying oxygen.
  • #53 Congenital Heart Defects and What Causes Them –
    https://www.carnegieimaging.com/blog/congenital-heart-defects-and-what-causes-them/
    Heart complications can take a serious toll on your health even when you’re an adult. Babies born with heart defects can face an uphill battle when it comes to remaining healthy throughout life, meaning it’s important to set your child up for success by preventing heart defects and ensuring they have the care they need. Here’s what to know about congenital heart defects and what you can do about them. […] Congenital heart defects (CHDs) are heart conditions that are present at birth. They can be serious or mild, but nearly 1 in 100 babies are born with CHDs, making it the most common birth defect. CHDs that are serious are called critical congenital heart defects. Heart defects can affect many different areas of the heart, including the heart chambers, the septum (the wall that divides the two halves of the heart), the heart valves, and the nearby arteries and veins. In some cases, CHDs can affect your baby’s blood flow, causing it to slow down, flow to the wrong areas, flow in the wrong direction, be blocked, or be insufficient at carrying oxygen.
  • #54 Congenital Heart Defects in Children | Doernbecher Children’s Hospital | OHSU
    https://www.ohsu.edu/doernbecher/congenital-heart-defects-children
    Some mild conditions heal on their own or can be managed with medication. More serious conditions may need surgery in the first year of life. […] Children with complex conditions may need additional surgeries and follow-up care, sometimes throughout life. […] Ventricular septal defects are the most common heart defect.
  • #55 Congenital Heart Disease
    https://fpnotebook.com/CV/Peds/CngntlHrtDs.htm
    Incidence: 75 cases per 1000 live births (up to 1%, or 40,000 per year in U.S.) […] Serious causes requiring surgery in first year of life occur in 25% of cases […] Congenital Heart Defects are the leading congenital cause of death in infants […] Up to 60% of Congenital Heart Disease has a delayed diagnosis […] Ventricular Septal Defects account for 25% of cases […] Secundum-type Atrial Septal Defects (Ostium Secundum) account for 10% of cases […] Maternal Diabetes Mellitus […] Family History of Congenital Heart Disease […] Maternal history: 5-10% CHD risk […] Sibling history: 2-3% CHD risk […] Rubella exposure in first trimester (PDA) […] Residence at high altitude (PDA) […] Systemic Lupus Erythematosus […] Maternal medications and substances […] Trisomy 21 (50% Incidence of Congenital Heart Disease, Endocardial Cushion Defects)
  • #56 Congenital Heart Disease: Understanding Causes and Types of Heart Defects in Kids
    https://mydoctor.kaiserpermanente.org/mas/news/congenital-heart-disease-understanding-causes-and-types-of-heart-defects-in-kids-1929009
    However, there are certain factors that can increase the risk of having a child with a congenital heart disease. These include family history of certain heart conditions, drug/alcohol use during pregnancy, genetic conditions of the baby such as Down syndrome and Turner syndrome, uncontrolled maternal diabetes, autoimmune disorders, and taking certain medications during pregnancy, such as antiseizure medications. […] Congenital heart disease can be very mild or severe. A defect can be a hole in the heart, or a defect can be abnormalities in the valves, the chambers, the vessels, the heart muscle, electrical problems or a combination of these. […] Congenital heart defects are often categorized as noncyanotic or cyanotic defects. If the defect lowers the amount of oxygen in the body – for example, the baby turns blue – the condition is called cyanotic. If the condition doesn’t affect oxygen levels, it is considered non-cyanotic or acyanotic heart disease.
  • #57 Congenital Heart Defects in Children | Doernbecher Children’s Hospital | OHSU
    https://www.ohsu.edu/doernbecher/congenital-heart-defects-children
    Pediatric heart surgeon Ashok Muralidaran specializes in treating congenital heart conditions. […] Congenital heart defects are problems with the heart’s structure that are present at birth. They develop during the first eight weeks of pregnancy, when the heart is formed. A defect can happen when development takes a wrong turn somewhere along the way. […] Some heart problems run in families or are linked to genetic syndromes, such as Trisomy 21 (Down syndrome). Most of the time, though, doctors don’t know the exact cause. There is nothing parents did or didn’t do to cause their baby’s heart disease. […] Almost all newborns in the United States are screened for congenital heart defects. Doctors also find heart defects before birth during fetal ultrasounds. […] Doernbecher offers leading-edge care for all types of congenital heart conditions. Your child’s treatment will depend on the specific diagnosis.
  • #58 Congenital Heart Defects in Children | Doernbecher Children’s Hospital | OHSU
    https://www.ohsu.edu/doernbecher/congenital-heart-defects-children
    Pediatric heart surgeon Ashok Muralidaran specializes in treating congenital heart conditions. […] Congenital heart defects are problems with the heart’s structure that are present at birth. They develop during the first eight weeks of pregnancy, when the heart is formed. A defect can happen when development takes a wrong turn somewhere along the way. […] Some heart problems run in families or are linked to genetic syndromes, such as Trisomy 21 (Down syndrome). Most of the time, though, doctors don’t know the exact cause. There is nothing parents did or didn’t do to cause their baby’s heart disease. […] Almost all newborns in the United States are screened for congenital heart defects. Doctors also find heart defects before birth during fetal ultrasounds. […] Doernbecher offers leading-edge care for all types of congenital heart conditions. Your child’s treatment will depend on the specific diagnosis.
  • #59 Congenital Heart Defects (CHDs) | Boston Children’s Hospital
    https://www.childrenshospital.org/conditions/congenital-heart-defects
    A congenital heart defect (CHD) is a structural problem of the heart that develops during pregnancy. About one out of 100 babies is born with a congenital heart defect. There are many types of congenital heart defects, ranging from simple to complex. Most are diagnosed and treated early in infancy. […] Many congenital heart diseases in babies have a genetic cause. Some known associations include: Chromosome abnormalities, such as Down syndrome, trisomy 18 and trisomy 13, and Turner syndrome; Microdeletion or microduplication syndromes, such as DiGeorge syndrome; Single gene defects; Environmental factors. […] If you have a congenital heart defect, we recommend you speak with a genetic counselor or genetic specialist before becoming pregnant.
  • #60 Factors That May Lead to a Congenital Heart Defect (CHD)
    https://healthlibrary.ecuhealth.org/library/diseasesconditions/Pediatric/NormalNewborn/90,P01788
    Counseling is important for people with chronic illnesses before becoming pregnant. Always talk with your healthcare provider before taking any medicines while you are pregnant. […] Rubella is known to cause birth defects. Rubella is a virus that most people in the U.S. are protected from when they get the measles, mumps, and rubella (MMR) vaccine. A person who has never had rubella or the vaccine should talk with their healthcare provider before becoming pregnant. A person who has rubella during their pregnancy has a very high chance of having a baby with birth defects, including CHD. […] Family history and CHDs About 1 in 100 children are born with a congenital heart defect each year. There is an overall 3 times increased risk for CHD when a first-degree relative has a CHD. […] Some heart defects have autosomal-dominant inheritance. This means that with each pregnancy, a parent with the defect has a 1 in 2 chance of having a child with the same heart defect. Males and females are equally affected. There is also a 1 in 2 chance that a baby will not be affected.
  • #61 Factors That May Lead to a Congenital Heart Defect (CHD)
    https://healthlibrary.ecuhealth.org/library/diseasesconditions/Pediatric/NormalNewborn/90,P01788
    People with congenital heart defect should talk with a genetic counselor or genetic specialist before becoming pregnant. In families with CHD in the parents or other children, talk with your healthcare provider about fetal echocardiography. This test can be done in the second trimester, as early as 16 weeks of pregnancy. It looks for major heart defects in the baby. […] Chromosome abnormalities and CHDs Chromosomes are the structures in your cells that contain your genes. Genes contain the code for your traits such as eye color and blood type. Usually, there are 46 chromosomes in each cell of the body. Having too many or too few chromosomes leads to health problems and birth defects. Structural defects of the chromosomes may sometimes occur. This is when a piece of a chromosome is missing. Or it may be duplicated. These also cause health problems.
  • #62 Congenital heart disease: current knowledge about causes and inheritance | The Medical Journal of Australia
    https://www.mja.com.au/journal/2012/197/3/congenital-heart-disease-current-knowledge-about-causes-and-inheritance
    Recurrence risks also vary considerably among different types of CHD. […] Recent advances in technology provide us with the potential to better understand conditions with a genetic component that have not previously been well understood. […] Accelerated gene discovery in CHD will translate into more individualised genetic counselling for patients and their families.
  • #63 Congenital Heart Disease: Understanding Causes and Types of Heart Defects in Kids
    https://mydoctor.kaiserpermanente.org/mas/news/congenital-heart-disease-understanding-causes-and-types-of-heart-defects-in-kids-1929009
    Parents should know that the diagnosis of a congenital heart disease usually is not a dire diagnosis. With the advancement in the management and treatment options over the past decades, these defects are usually fixable and treatable. The prognosis for patients with congenital heart defects is excellent, with survival rates well above 90 percent.
  • #64 Congenital Heart Defects (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/if-heart-defect.html
    A heart defect is a problem in the heart’s structure. Kids who have a heart defect were born with it. Heart defects are often called „congenital,” which means „present at birth.” […] There are many different types of congenital heart defects. […] Some problems, such as small- or moderate-sized ventricular septal defects, may close or get smaller as a child grows. […] Complex defects found early might need a series of operations that are finished when a child is about 3 years old. […] Signs of a possible congenital heart problem include fast breathing, slower growth, and in older kids, shortness of breath or heart palpitations (feeling their heart beating fast or differently). […] Doctors can diagnose a congenital heart defect in several ways. Sometimes, they make a diagnosis before a child is born using a fetal echocardiogram (an ultrasound done before birth). […] Some babies or children might have a heart murmur. But most heart murmurs are harmless (called innocent murmurs). […] Kids with heart defects should take good care of their teeth. They should brush and floss daily, and have regular dental visits and cleanings as often as the dentist recommends.
  • #65 Congenital heart disease – Children’s Health Cardiology
    https://www.childrens.com/specialties-services/conditions/congenital-heart-disease
    Congenital heart disease, also called a congenital heart defect, is the most common birth defect. These heart conditions develop before a baby is born and affect the way a child’s heart looks and works. Some children with congenital heart disease need only monitoring or medications. But about one in three infants have life-threatening heart defects that require surgery. […] Experts are still trying to determine why some children develop heart defects. […] Potential causes may include: […] Chromosome changes – Certain chromosomal conditions, such as Down syndrome, increase a child’s chances of having congenital heart disease. […] Environmental exposures – Taking certain medications, drinking alcohol, smoking or abusing substances during pregnancy may affect an unborn baby’s heart development.
  • #66 Congenital Heart Defects (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/if-heart-defect.html
    A heart defect is a problem in the heart’s structure. Kids who have a heart defect were born with it. Heart defects are often called „congenital,” which means „present at birth.” […] There are many different types of congenital heart defects. […] Some problems, such as small- or moderate-sized ventricular septal defects, may close or get smaller as a child grows. […] Complex defects found early might need a series of operations that are finished when a child is about 3 years old. […] Signs of a possible congenital heart problem include fast breathing, slower growth, and in older kids, shortness of breath or heart palpitations (feeling their heart beating fast or differently). […] Doctors can diagnose a congenital heart defect in several ways. Sometimes, they make a diagnosis before a child is born using a fetal echocardiogram (an ultrasound done before birth). […] Some babies or children might have a heart murmur. But most heart murmurs are harmless (called innocent murmurs). […] Kids with heart defects should take good care of their teeth. They should brush and floss daily, and have regular dental visits and cleanings as often as the dentist recommends.
  • #67 Congenital Heart Defects in Children Signs & Symptoms | Rush | Rush System
    https://www.rush.edu/kids/conditions/congenital-heart-defects-children
    Congenital heart defects are structural problems in a babys heart that do not allow the heart to work properly. […] Congenital heart defects are the most common type of birth defects. […] There is no known cause for many congenital heart conditions. However, the following factors can increase women’s risk of having a baby with heart disease: Maternal diseases (e.g., lupus, diabetes), Family history of having a child with congenital heart disease, Late maternal age, Exposure to certain medications during pregnancy, Pregnancy conceived with artificial reproductive techniques, Having a baby with other suspected health problem. […] People with congenital heart defects have an increased risk of developing other heart-related problems, such as arrhythmia (irregular heartbeat) or endocarditis (heart infection). […] Children born with heart defects face unique challenges when they reach adulthood including the need for additional surgery and an increased risk of sudden cardiac death.
  • #68 Congenital Heart Disease: Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/21674-congenital-heart-disease
    Congenital heart disease (CHD) is a problem with how your heart forms before birth. Some issues are more severe than others, but all of them prevent normal blood flow through your heart and beyond. Advances in diagnosis and treatment help most children with a CHD live to become adults. […] CHD happens when the fetal heart doesn’t develop correctly in the uterus. Scientists don’t fully understand why that happens, but it may be related to: […] Researchers consider these to be the risk factors for congenital heart disease. […] There aren’t any proven strategies to prevent CHD. People are born with it, usually from unknown causes. It’s beyond their control. […] Scientists don’t have all the answers yet as to what causes congenital heart defects other than random gene mutations. But some things like smoking, alcohol and certain medications place you at a higher risk, and you should avoid these during pregnancy.
  • #69
    https://abcnews.go.com/Health/HeartDiseaseLivingWith/story?id=4224649
    What is a congenital heart defect and what causes it? How common is it? Can it affect risk for developing heart disease either as a child or as an adult? […] We don’t really know the cause of congenital heart defects. We do believe that there are both genetic factors, and that means a defect in a gene or a part of a gene that leads to development of the heart defect, and also environmental factors — exposure to infectious agents or exposure to certain toxic agents, or even not receiving pre-natal vitamins. […] If someone wants to prevent a heart defect, all they can do is make sure they receive pre-natal vitamins, they don’t smoke, and they try to lead a healthy lifestyle during pregnancy. Beyond that, there’s not really much a parent can do to prevent a heart defect in their child. […] The fact is we don’t know the answer to that. We don’t believe that it does. We still think the usual risk factors: obesity, hypertension, smoking, genetics, diabetes — those are the things that affect the risk for developing heart disease, and we think those are much more important than any history of congenital heart defects or prior surgery.
  • #70 Congenital Heart Disease (CHD) in Children | Children’s Hospital of Philadelphia
    https://www.chop.edu/conditions-diseases/congenital-heart-disease
    Congenital (meaning present at birth) heart disease is a term used to describe a number of different conditions that affect the heart. These heart abnormalities are problems that occur as the baby’s heart is developing during pregnancy, before the baby is born. Congenital heart disease (CHD) affects 1 in 120 babies born in the United States, making heart defects the most common birth defects. […] Often, congenital heart disease is a result of one of these crucial steps not happening at the right time. […] Most forms of congenital heart disease have no known cause. Mothers will often wonder if something they did during the pregnancy caused the heart problem. In most cases, nothing can be attributed to the heart defect. […] Some heart problems do occur more often in families, so there may be a genetic link to some heart conditions. Other CHDs are likely to occur if the mother had a disease while pregnant and was taking medications, such as anti-seizure medicines. However, most of the time there is no identifiable reason as to why the heart condition occurred.
  • #71 Congenital Heart Defects – Children’s Hospital of Orange County
    https://choc.org/heart/congenital-heart-defects/
    Multifactorial inheritance means that „many factors” (multifactorial) are involved in causing a birth defect. The factors are usually both genetic and environmental, which means a combination of genes from both parents, in addition to unknown environmental factors, produce the trait or condition. […] Many mothers of babies born with a congenital heart defect may blame themselves for their child’s illness. It is important to remember that the cause of most congenital heart defects are not known. However, some types of congenital heart defects are known to occur more often when the mother comes in contact with certain substances during the first few weeks of pregnancy while the baby’s heart is developing. […] Some maternal illnesses and medications taken for these illnesses have been shown to affect the heart’s development.