Wada kanału przedsionkowo-komorowego
Objawy

Wada kanału przedsionkowo-komorowego (AVCD) to wrodzona wada serca charakteryzująca się ubytkami w przegrodach międzyjamowych oraz nieprawidłowościami zastawek przedsionkowo-komorowych. W przypadku całkowitej AVCD objawy pojawiają się w pierwszych tygodniach życia i obejmują sinicę, tachypnoe, tachykardię, obrzęki oraz niewydolność serca wynikającą z lewo-prawego przecieku i przeciążenia prawej komory. Nieleczona wada prowadzi do szybkiej progresji niewydolności serca, infekcji płucnych, powiększenia serca i niedomykalności zastawek, z około 65% śmiertelnością w pierwszym roku życia i średnią długością życia 2-3 lata. Rozwój nadciśnienia płucnego, przebiegający od zwiększonego przepływu krwi do nieodwracalnej przebudowy naczyń płucnych w ciągu 2 lat, jest kluczowym czynnikiem pogarszającym rokowanie.

Objawy wady kanału przedsionkowo-komorowego

Wada kanału przedsionkowo-komorowego (ang. Atrioventricular Canal Defect, AVCD) to wrodzona wada serca polegająca na nieprawidłowym rozwoju centralnej części serca. Charakteryzuje się obecnością ubytków w przegrodach między jamami serca oraz nieprawidłowościami zastawek przedsionkowo-komorowych. Objawy tej wady zależą od jej typu (całkowita lub częściowa) oraz wielkości ubytków.12

Objawy całkowitej wady kanału przedsionkowo-komorowego

W przypadku całkowitej wady kanału przedsionkowo-komorowego objawy zazwyczaj pojawiają się w pierwszych tygodniach lub miesiącach życia dziecka. Związane są one głównie z niewydolnością serca wynikającą ze zwiększonego przepływu krwi do płuc i przeciążenia serca.12 Do najczęstszych objawów należą:

  • Sinica – niebieskoszare zabarwienie skóry, warg i paznokci spowodowane niskim poziomem tlenu we krwi12
  • Trudności z oddychaniem lub przyspieszone oddychanie (tachypnea)12
  • Nadmierne pocenie się, szczególnie podczas karmienia12
  • Zmęczenie1
  • Nieregularne lub przyspieszone bicie serca (tachykardia)12
  • Brak apetytu lub trudności z karmieniem12
  • Słaby przyrost masy ciała12
  • Obrzęk nóg, kostek i stóp1
  • Świszczący oddech (wheezing)12
  • Bladość lub chłodna skóra1
  • Chrypienie lub rzężenie w płucach podczas osłuchiwania1

Objawy te zwykle pojawiają się, gdy opór naczyniowy w płucach spada w pierwszych tygodniach życia, co prowadzi do zwiększonego przepływu krwi z lewej do prawej strony serca (lewo-prawy przeciek) przez ubytek w przegrodzie. Powoduje to przeciążenie prawej komory i zwiększony przepływ krwi do płuc.123

Objawy częściowej wady kanału przedsionkowo-komorowego

W przypadku częściowej wady kanału przedsionkowo-komorowego objawy mogą być łagodniejsze i czasem nie są zauważalne aż do późnego dzieciństwa lub wczesnej dorosłości.12 Do objawów częściowej wady kanału przedsionkowo-komorowego należą:

  • Zmęczenie i osłabienie1
  • Nudności i brak apetytu1
  • Przewlekły kaszel lub świszczący oddech1
  • Szybkie lub nieregularne bicie serca (arytmia)12
  • Zmniejszona zdolność do wysiłku fizycznego12
  • Duszność1
  • Obrzęk nóg, kostek i stóp1
  • Ucisk lub ból w klatce piersiowej1
  • Kołatanie serca1

Te objawy często związane są z powikłaniami takimi jak problemy z zastawką serca, nadciśnienie płucne lub niewydolność serca, które rozwijają się wraz z wiekiem.12

Progresja wady kanału przedsionkowo-komorowego

Nieleczona wada kanału przedsionkowo-komorowego prowadzi do postępujących powikłań, które znacząco wpływają na rozwój i rokowanie pacjenta.12

Progresja choroby u niemowląt i małych dzieci

W przypadku całkowitej wady kanału przedsionkowo-komorowego bez leczenia chirurgicznego następuje szybka progresja objawów niewydolności serca. W pierwszych miesiącach życia zwiększa się przeciążenie hemodynamiczne płuc i prawej komory serca.12 Prowadzi to do:

Bez leczenia chirurgicznego, około 65% niemowląt z całkowitą wadą kanału przedsionkowo-komorowego umiera przed ukończeniem pierwszego roku życia.1 Średnia długość życia u nieleczonych dzieci wynosi około 2-3 lat.1

Rozwój nadciśnienia płucnego

Kluczowym aspektem progresji wady kanału przedsionkowo-komorowego jest rozwój nadciśnienia płucnego. Zwiększony przepływ krwi do płuc przez długi czas powoduje przebudowę naczyń płucnych, która prowadzi do nieodwracalnych zmian.12

Rozwój nadciśnienia płucnego przebiega następująco:

  • Początkowo zwiększony przepływ krwi do płuc powoduje objawy niewydolności serca1
  • Z czasem naczynia płucne ulegają pogrubieniu i zwężeniu1
  • Wzrost oporu naczyniowego w płucach powoduje zmniejszenie przecieku lewo-prawego1
  • Paradoksalnie, pacjenci z wysokim oporem naczyniowym w płucach mogą początkowo wykazywać mniej objawów niewydolności serca i lepszy przyrost masy ciała1
  • Z czasem dochodzi do odwrócenia kierunku przecieku (prawo-lewy), co prowadzi do nasilenia sinicy12

Nieodwracalne uszkodzenie naczyń płucnych może nastąpić w ciągu 2 lat od urodzenia, co podkreśla znaczenie wczesnego leczenia chirurgicznego.1

Powikłania u młodzieży i dorosłych

U pacjentów, którzy nie zostali zdiagnozowani lub leczeni we wczesnym dzieciństwie, choroba może postępować, prowadząc do poważnych powikłań w wieku młodzieńczym lub dorosłym.12 Do najczęstszych powikłań należą:

  • Zaburzenia rytmu serca (arytmie) – mogą się nasilać z wiekiem, szczególnie migotanie przedsionków12
  • Przewlekła niewydolność serca – z objawami duszności, zmęczenia i obrzęków1
  • Zespół Eisenmengera – nieodwracalne nadciśnienie płucne z odwróceniem kierunku przecieku i sinicą12
  • Niedomykalność zastawek przedsionkowo-komorowych – postępująca z wiekiem1
  • Zmniejszona wydolność wysiłkowa – narastająca wraz z progresją choroby1

Nawet u pacjentów z częściową wadą kanału przedsionkowo-komorowego, którzy początkowo mogą nie mieć objawów, z czasem dochodzi do rozwinięcia się objawów związanych z niedomykalnością zastawki mitralnej lub nadciśnieniem płucnym.12

Różnice w progresji między typami wady

Progresja choroby różni się znacząco w zależności od typu wady kanału przedsionkowo-komorowego:123

Typ wady Początek objawów Progresja Zalecany czas operacji
Całkowita Pierwsze tygodnie/miesiące życia Szybka – niewydolność serca, zaburzenia wzrostu 3-6 miesiąc życia
Częściowa Późne dzieciństwo lub wczesna dorosłość Powolna – zależna od stopnia niedomykalności zastawki 2-4 rok życia
Przejściowa Zmienna – zależna od wielkości ubytku międzykomorowego Umiarkowana – objawy mogą nie wystąpić w dzieciństwie 12-36 miesiąc życia

Rokowanie i długoterminowe następstwa

Rokowanie w wadzie kanału przedsionkowo-komorowego zależy głównie od typu wady, czasu interwencji chirurgicznej i obecności towarzyszących wad serca.12

Rokowanie po leczeniu chirurgicznym

Leczenie chirurgiczne znacząco poprawia rokowanie pacjentów z wadą kanału przedsionkowo-komorowego:12

  • Około 90% dzieci po operacji ma 10-letni wskaźnik przeżycia1
  • Około 65% pacjentów żyje co najmniej 20 lat po operacji1
  • U większości dzieci po operacji następuje powrót do normalnej aktywności, apetytu i wzrostu12

Jednak nawet po udanej operacji pacjenci z wadą kanału przedsionkowo-komorowego będą wymagać dożywotniego monitorowania kardiologicznego ze względu na możliwe późne powikłania.12

Powikłania długoterminowe

Najczęstsze długoterminowe powikłania po operacji wady kanału przedsionkowo-komorowego to:12

  • Niedomykalność zastawki mitralnej lub trójdzielnej, która może wymagać kolejnej operacji12
  • Zwężenie drogi odpływu lewej komory1
  • Zaburzenia rytmu serca (arytmie)1
  • Infekcje wsierdzia1
  • Ryzyko niewydolności serca1
  • Ryzyko udaru mózgu1

Długoterminowe rokowanie zależy również od czasu przeprowadzenia operacji. Im wcześniej wada zostanie skorygowana, tym mniejsze ryzyko nieodwracalnych zmian w naczyniach płucnych i trwałego uszkodzenia serca.1

Szczególne aspekty progresji u osób z zespołem Downa

Wada kanału przedsionkowo-komorowego często występuje u pacjentów z zespołem Downa. U tych pacjentów mogą wystąpić pewne szczególne cechy progresji choroby:12

  • Dzieci z zespołem Downa mogą szybciej rozwijać problemy płucne i mogą wymagać wcześniejszej operacji1
  • U pacjentów z zespołem Downa istnieje większe ryzyko rozwoju nadciśnienia płucnego w młodszym wieku1
  • Wada kanału przedsionkowo-komorowego u pacjentów z zespołem Downa często współistnieje z innymi wadami serca, co może wpływać na przebieg choroby1

Szybka diagnoza i wczesne leczenie chirurgiczne są szczególnie ważne u pacjentów z zespołem Downa, aby zapobiec nieodwracalnym zmianom w naczyniach płucnych.1

Kolejne rozdziały

Zapraszamy do dalszego czytania naszego leksykonu.

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

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

Materiały źródłowe

  • #1 Atrioventricular canal defect | Health Library | Memorial Health System
    https://www.mhsystem.org/health-library/con-20310187/
    Atrioventricular canal defect can involve only the two upper chambers of the heart or all four chambers. In both types, extra blood flows into the lungs. Symptoms depend on whether the defect is partial or complete. […] Symptoms of a complete atrioventricular canal defect usually develop in the first weeks of life. Symptoms are generally similar to those of heart failure. They may include: Blue or gray skin color due to low oxygen levels, Difficulty breathing or rapid breathing, Excessive sweating, Fatigue, Irregular or rapid heartbeat, Lack of appetite, Poor weight gain, Swelling in the legs, ankles and feet, Wheezing. […] Symptoms of a partial atrioventricular canal defect may not appear until early adulthood. The symptoms may be due to complications such as heart valve problems, high blood pressure in the lungs or heart failure. Symptoms may include: Fatigue and weakness, Nausea and lack of appetite, Persistent cough or wheezing, Rapid or irregular heartbeat, also called an arrhythmia, Reduced ability to exercise, Shortness of breath, Swelling in the legs, ankles and feet, Chest pressure or pain.
  • #1 Atrioventricular (AV) Canal in Children – Stanford Medicine Children’s Health
    https://www.stanfordchildrens.org/en/topic/default?id=atrioventricular-av-canal-in-children-90-P01767
    The symptoms of AV canal defect may be similar to symptoms caused by other heart problems. […] Babies with AV canal defects often have symptoms. They can include: Tiredness, Sweating, Pale, cool skin, Fast, heavy breathing, Fast heart rate, Chest congestion, Trouble feeding, Not enough weight gain. […] Your child’s symptoms depend on the size of his or her septal openings. The larger the openings, the more blood is able to pass through them. This can overload your child’s heart and lungs. This means that your child’s symptoms may be more severe. […] Over time, the pressure in your child’s lungs will force blood back to his or her heart. This blood has low oxygen levels, and it’s sent to the rest of the body. This causes your child’s lips, nailbeds, and skin to turn blue (cyanosis).
  • #1 Atrioventricular Canal Defects – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK557511/
    Symptoms of Congestive Heart Failure: These include increased work of breathing, sweating while feeding, poor feeding, lethargy, or increased sleepiness. […] Signs of Congestive Heart Failure: These include tachypnea, tachycardia, failure to thrive (fall across two major centiles on the growth chart), wheezing or rales on lung auscultation, S3 gallop rhythm, apical displacement of the apical impulse, hepatomegaly, or increased jugular venous pressure (JVP). […] The patients will eventually start to develop left to right shunt irrespective of the type of defect, although the magnitude of the shunting depends on the type of defect. In complete AV canal defects, blood from the left to right flows through interatrial, interventricular, and AV valves, while in a partial defect, blood flows through the ostium primum. These individuals develop heart failure symptoms even before the age of one if it is not corrected.
  • #1 Atrioventricular Canal Defects – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK557511/
    In patients with complete atrioventricular canal defects, mostly symptoms of pulmonary over circulation develop before the age of 6 months, and the severity of symptoms depends on the size and the type of the defects. […] Tachypnea and difficulty to gain weight are the first signs noticeable in patients with AV canal defects. The occurrence and severity of symptoms depend on the degree of AV valve regurgitation and other associated CHD, which can contribute to the early development of congestive heart failure (CHF). […] In patients with partial AV canal defect, symptoms might not be detected in the first few years of life and might manifest later in childhood. Of note, ostium primum atrial septal defect (ASD) seen in AV canal defects presents earlier than ostium secundum ASD. The most common presentation is for the evaluation of a murmur, heard secondary to increased flow across the pulmonary valve, which is heard best at the upper left sternal border.
  • #1 Atrioventricular Septal Defect > Fact Sheets > Yale Medicine
    https://www.yalemedicine.org/conditions/atrioventricular-septal-defect
    Symptoms include rapid breathing, shortness of breath, poor weight gain, poor growth, sweating, rapid heart rate […] Babies with a complete atrioventricular septal defect typically do not have symptoms until around a month or two after birth. Symptoms of a complete atrioventricular septal defect may include: Rapid breathing, Shortness of breath while eating, Poor weight gain, Sweating, Poor growth, Rapid heart rate […] Some babies with a partial atrioventricular septal defect may not exhibit symptoms as infants, although they may develop symptoms during adolescence or as young adults, including: Difficulty breathing while exercising, Fatigue, Heart palpitations […] People with transitional atrioventricular septal defects may not experience any symptoms in childhood. They may develop symptoms of heart failure if the hole in the wall separating the ventricles is large enough. Heart failure symptoms include shortness of breath, fatigue, and the buildup of fluid in the legs, among others. […] When a complete or partial atrioventricular septal defect worsens, a person with the condition may develop: Abnormal heart rhythms (arrhythmias), Congestive heart failure, Pulmonary hypertension.
  • #1 Atrioventricular Canal (AVC) Defect
    https://my.clevelandclinic.org/health/diseases/22128-atrioventricular-canal-defect
    Soon after birth, a baby may have atrioventricular canal defect symptoms like: […] Babies with mild partial or transitional AV canal defect may not have symptoms until later in childhood or even their teen years or early adult years. […] Without surgery, children with an AV canal defect may have a life expectancy of two or three years. Some live to be young adults. […] About 90% of children who have repair surgery have a 10-year survival rate. This means they live for at least another 10 years on average after treatment. About 65% are alive 20 years after surgery. […] But even after surgery, someone with an atrioventricular canal defect won’t have a typical heart. They’ll need periodic echocardiograms to monitor their heart’s function and catch complications early.
  • #1 Atrioventricular Canal Defect (AVCD) | Cardinal Glennon
    https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/fetal-heart-program/heart-conditions/av-canal
    Symptoms of congestive heart failure typically develop over the first one to two months of life. These symptoms include trouble feeding, excessive sleepiness, breathing problems, sweating and failure to thrive. […] For complete AVCD, surgery is typically performed in the first four to six months of life. […] For partial defects, surgery is typically performed around two to four years of age.
  • #1 Province of MB | The PCSIR – Ch 2 – Atrioventricular canal defect
    http://www.pediatriccardiacinquest.mb.ca/ch02/av.html
    Atrioventricular (AV) canal defect is a large hole in the centre of the heart. The AV canal defect lets some of the oxygen-rich blood from the heart’s left side pass (or shunt) back into the heart’s right side. There, the oxygen-rich blood mixes with the oxygen-poor venous blood from the body and is sent back to the lungs. This results in the heart pumping an extra amount of blood and working harder than it should. In time, the extra work causes the heart to enlarge. There is also an associated increase in the pressure in the pulmonary artery, which may cause problems. […] With complete AV canal defects, signs and symptoms occur early in infancy. These usually include abnormal heart sounds, congestive heart failure, intermittent cyanosis, respiratory infections, poor feeding and inadequate weight gain. […] In a baby with severe symptoms or high pulmonary artery pressure, surgery must usually be done in infancy.
  • #1 Atrioventricular Canal Defects – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK557511/
    There is a significant regurgitation of blood in the heart chambers due to incompetent AV valves. Most of the regurgitation happens from ventricles to the atrium of the same side, although some occur from LV to RA through the cleft in the anterior mitral leaflet. This can lead to atrial dilatation or ventricular hypertrophy, depending on the defect, which can accelerate the development of congestive heart failure in children.
  • #1 Atrioventricular Canal Defects | Thoracic Key
    https://thoracickey.com/atrioventricular-canal-defects/
    Atrioventricular canal defects have also been called endocardial cushion defects and AV septal defects (AVSDs). These defects are characterized by varying degrees of incomplete development of the septal tissue surrounding the AV valves along with varying degrees of abnormalities of the AV valves themselves. […] Patients with partial AVSD may have an asymptomatic cardiac murmur similar to those with secundum ASDs. However, when left AV valve insufficiency is more pronounced, patients may have symptoms of pulmonary congestion, cardiac failure, and dyspnea. Patients with complete AVSD are more likely to have prominent left-to-right shunting and are similarly more likely to have symptoms of congestive heart failure, fatigue, and dyspnea. Complete AVSD presents with a more malignant course than partial AVSD. With the complete defect, severe cardiac failure is often present in infancy, and severe pulmonary hypertension will eventually develop, resulting in the death of up to 65% of infants before 1 year of age without surgical intervention.
  • #1 Complete Atrioventricular Canal defect (CAVC) | American Heart Association
    https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/complete-atrioventricular-canal-defect-cavc
    A child with AV canal defect may breathe faster and harder than normal. Infants may have trouble feeding and growing at a normal rate. Symptoms may not occur until several weeks after birth. High pressure may occur in the blood vessels in the lungs because more blood than normal is being pumped there. Over time this causes permanent damage to the lung blood vessels. […] High pressure may occur in the blood vessels in the lungs that can lead to permanent damage with pulmonary hypertension that persists into adulthood. […] Many adults who have not had previous repair have pulmonary hypertension (see Eisenmenger’s syndrome). This complication is more common than in patients with an ASD or a VSD. Even in adults without Eisenmenger’s syndrome, symptoms including shortness of breath, intolerance to exercise and palpitations are common. On physical examinations, murmurs due to the blood flow across the defects and due to the valve leak are common.
  • #1 Atrioventricular (AV) Canal Defect in Children
    https://healthlibrary.aultcare.com/Library/DiseasesConditions/Adult/Oral/90,P01767
    If left untreated, an AV canal defect can cause several problems. […] As the arteries in the lungs get thicker, less blood will flow from the left to the right side of the heart and to the lungs. It will be easier for oxygen-poor (blue) blood to flow from the right side into the left side of the heart and on to the rest of the body. This stops the body from getting enough oxygen. This causes a blue coloring to your child’s skin, lips, and nails. […] Many children who have had an AV canal defect will live active, healthy lives after their surgery. Their activity levels, appetite, and growth will return to normal over time. Some children will still have heart valve problems after surgery. They may eventually need another surgery to repair or replace the leaky or blocked valve or valves.
  • #1 Atrioventricular Septal Defect | Symptoms, Diagnosis & Treatment
    https://www.cincinnatichildrens.org/health/a/avsd
    Atrioventricular septal defects (AVSD) are a common group of congenital heart defects. […] The specific type of defect impacts the symptoms that may develop. It also impacts the timing and details of surgical repair. […] Babies with congestive heart failure breathe fast and hard. They often sweat and / or tire out while feeding. They also grow slowly or lose weight. These symptoms develop slowly over the first one to two months of life. […] A small number of infants with a complete atrioventricular septal defect will not develop congestive heart failure. This occurs because the muscle cells that line the small arteries in the lungs get bigger and tighter to protect the lungs from the extra flow and high pressure from the atrioventricular septal defect. […] When there is an increase in pulmonary vascular resistance, the baby may not develop the signs and symptoms of congestive heart failure since the pulmonary vascular resistance reduces the amount of left-to-right shunt.
  • #1 Atrioventricular Septal Defect | Symptoms, Diagnosis & Treatment
    https://www.cincinnatichildrens.org/health/a/avsd
    Infants with a complete atrioventricular septal defect and elevated pulmonary vascular resistance often grow better and look healthier than those with low pulmonary vascular resistance and congestive heart failure. […] Infants with the partial or transitional forms of atrioventricular septal defects have noticeable signs and symptoms. since the hole between the ventricles is small or not present at all. […] Congestive heart failure, growth failure or a very loud murmur in a child with a partial atrioventricular septal defect can occur when the defect in the left-sided valve leaflet causes this valve to be very leaky and causes extra work for the left ventricle.
  • #1 Atrioventricular canal defect | AV canal defect | Children’s Wisconsin
    https://childrenswi.org/medical-care/herma-heart/conditions/atrioventricular-canal
    As the pressure in the lungs rises, blood within the heart will eventually „shunt” through the septal openings from the right heart to the left. This allows oxygen-poor (blue) blood to reach the body, and cyanosis will be noted. Cyanosis gives a blue color to the lips, nailbeds, and skin. The symptoms of AV canal defect may resemble other medical conditions or heart problems. Always consult your child’s physician for a diagnosis.
  • #1 Atrioventricular Canal Defect: What You Need to Know
    https://www.healthline.com/health/atrioventricular-canal-defect
    The severity of symptoms depends on the size and type of AV canal your child has. Symptoms often appear within the first 6 months of life. Some infants with partial AV canals might not have noticeable symptoms for a couple of years. […] The backflow of blood from the left to the right side of your child’s heart can increase pressure in the blood vessels that lead to their lungs. They might experience symptoms such as: rapid breathing, recurrent respiratory infections, poor feeding, an inability to gain weight. […] Your child’s doctor may be able to hear a heart murmur with a stethoscope. Other signs and symptoms can include: pounding heart, weak pulse, blue or ashen skin color, easily tiring, swelling in their belly or legs. […] These symptoms often appear by roughly 6-8 weeks. […] Irreversible damage to the blood vessels leading to the lungs can occur within 2 years.
  • #1 Atrioventricular Canal (AVC) Defect | Children’s Mercy Kansas City
    https://www.childrensmercy.org/departments-and-clinics/heart-center/understanding-atrioventricular-canal-defect/
    Many children who have had atrioventricular canal repair will live healthy lives. Activity levels, appetite, and growth typically return to normal in most children. Some children will still have some degree of mitral- or tricuspid-valve abnormality or leakage after surgery, which may require another operation in the future.
  • #1 Atrioventricular Septal Defect – Pediatrics – Merck Manual Professional Edition
    https://www.merckmanuals.com/en-ca/professional/pediatrics/congenital-cardiovascular-anomalies/atrioventricular-septal-defect
    Complete atrioventricular septal defect with a large left-to-right shunt causes signs of heart failure (eg, tachypnea, dyspnea during feeding, poor weight gain, diaphoresis) by age 4 to 6 weeks. […] Symptoms in partial AV septal defects vary with the degree of mitral regurgitation; if mild or absent, symptoms may develop during adolescence or early adulthood, but infants with moderate or severe mitral regurgitation often have manifestations of heart failure. […] Patients with transitional AV septal defects may have signs of heart failure if the ventricular septal defect is moderately restrictive with high flow or may be asymptomatic if the ventricular septal defect is highly restrictive (small).
  • #1 Atrioventricular Septal Defects | IntechOpen
    https://www.intechopen.com/chapters/82479
    Patients with complete and intermediate forms clinically present early and require surgical correction during infancy, whereas partial, and transitional forms become symptomatic in early childhood. […] Patients with complete AV septal defects present in the neonatal period after first few days/weeks of life when pulmonary vascular resistance falls. This is attributed to the large atrial and ventricular level shunts leading to pulmonary over circulation. There will be tachypnea, increased work of breathing, failure to gain weight. More often, they would require high-calorie nutrition, diuretics to decrease the preload. […] Patients with partial AV septal defect (also called primum ASD) remain asymptomatic until early childhood. They rarely present early with failure to thrive depending on the size of the defect and severity of AV valve regurgitation.
  • #1 Atrioventricular (AV) Canal Defect in Children
    http://library.oumedicine.com/MentalHealth/90,P01767
    As the arteries in the lungs get thicker, less blood will flow from the left to the right side of the heart and to the lungs. It will be easier for oxygen-poor (blue) blood to flow from the right side into the left side of the heart and on to the rest of the body. This stops the body from getting enough oxygen. This causes a blue coloring to your child’s skin, lips, and nails. […] Many children who have had an AV canal defect will live active, healthy lives after their surgery. Their activity levels, appetite, and growth will return to normal over time. Some children will still have heart valve problems after surgery. They may eventually need another surgery to repair or replace the leaky or blocked valve or valves.
  • #1 Atrioventricular Canal Defects | Texas Children’s
    https://www.texaschildrens.org/content/conditions/atrioventricular-canal-defects
    In mild cases of partial atrioventricular canal defect, symptoms might not appear until early adulthood when complications occur. […] Surgery is required after birth to repair the atrioventricular canal defect. Surgery is typically recommended within the first year of life. In some cases, the condition may be managed with medications until the baby is big enough for surgery. […] Children born with an atrioventricular canal defect require lifelong follow-up care by a cardiologist experienced in congenital heart conditions, to monitor for any complications.
  • #1 Atrioventricular (AV) Canal Defect | Boston Children’s Hospital
    https://www.childrenshospital.org/conditions/atrioventricular-canal-defect
    A child with atrioventricular canal defect (AV canal) will usually develop symptoms within the first few weeks to months of life. These symptoms may include: Disinterest in feeding, or tiring while feeding […] Poor weight gain […] Fatigue […] Sweating […] Pale skin […] Cool skin […] Rapid breathing […] Heavy breathing […] Rapid heart rate […] Congested breathing […] Blue color. If your child has any of these symptoms, your pediatrician will probably refer you to a pediatric cardiologist for testing, diagnosis, and a determination of treatment. […] Many children who’ve had an AV-canal repair will live healthy lives. Activity levels, appetite, and growth typically return to normal in most children. Some children will still have some degree of mitral- or tricuspid-valve abnormality or leakage after surgery, which may require another operation in the future. Children with AV canal will need lifelong monitoring (some will need medication), since they will always be at some risk for arrhythmias, infections, heart failure, or stroke.
  • #1 Clinical Practice Algorithm For the Follow-Up of Repaired and Unrepaired Atrioventricular Septal Defects – American College of Cardiology
    https://www.acc.org/Latest-in-Cardiology/Articles/2025/02/03/12/17/Clinical-Practice-Algorithm-For-the-Follow-Up-of-Repaired-and-Unrepaired-Atrioventricular-Septal-Defects
    Timing of surgical referral for pediatric atrioventricular septal defect (AVSD) is dependent on the subtype of AVSD with repair in infancy (3-6 months) for complete AVSD and repair during toddler years (12-36 months) for partial/transitional AVSD. […] Left atrioventricular valve insufficiency and left ventricular outflow tract obstruction are the most common postoperative complications and may warrant frequent follow-up and potential reintervention. […] Older children and adults with unrepaired AVSD may require diagnostic cardiac catheterization before surgery, with additional management decisions guided by hemodynamic findings.
  • #1 Orphanet: Partial atrioventricular septal defect
    https://www.orpha.net/en/disease/detail/1330
    Most patients with PAVSD are asymptomatic until late in life. […] The two most common clinical manifestations are impaired exercise capacity and exertional dyspnea. Rarely, cardiac failure may occur in infancy. […] Additional features in adults include palpitations, presyncope or syncope, and sustained atrial arrhythmias. […] Long-term survival after repair of partial AVSD is the rule. The elective age for repair is 3-5 years, but some patients will not present until later in life. The later the repair is made, the greater the loss of ventricular function that occurs. High morbidity and need for reoperation, often related to residual problems of the systemic AV valve such as LAVV regurgitation, may be observed. Furthermore, the prognosis can be severely impaired if the left ventricle and left component of the common atrioventricular valve are hypoplastic or severely malformed.
  • #1 Atrioventricular Canal Defects | Texas Children’s
    https://www.texaschildrens.org/content/conditions/atrioventricular-canal-defects
    Atrioventricular (AV) canal defects are congenital heart defects, meaning they are present at birth. The condition occurs when the heart doesn’t form correctly during fetal development. It is often associated with Down syndrome. It can be associated with other heart abnormalities as well. […] In addition, the tricuspid valve (right side of the heart) and mitral valve (left side of the heart) that control the flow of blood between the upper and lower chambers of the heart often are not formed correctly, causing them to leak. In many cases instead of two valves there is only a single common valve leading from the upper chambers into the bottom chambers of the heart (known as a common AV valve). As a result of these defects, excess blood flows to the lungs, causing the heart and lungs to work harder than normal. Untreated, an infant with an AV canal defect may have rapid breathing and difficulty growing. Surgery is typically performed during infancy to correct the defects.
  • #1 Atrioventricular (AV) Canal Defect in Children
    https://library.ouhealth.com/library/Wellness/YourBody/90,P01767
    The symptoms of AV canal defect may be similar to symptoms caused by other heart problems. […] Babies with AV canal defects often have symptoms. They can include: Tiredness, Sweating, Pale, cool skin, Fast, heavy breathing, Fast heart rate, Chest congestion, Trouble feeding, Not enough weight gain. […] Your child’s symptoms depend on the size of their septal openings. The larger the openings, the more blood is able to pass through them. This can overload your child’s heart and lungs. This means that your child’s symptoms may be more severe. […] Over time, the pressure in your child’s lungs will force blood back to their heart. This blood has low oxygen levels, and it’s sent to the rest of the body. This causes your child’s lips, nail beds, and skin to turn blue (cyanosis). […] Most children have surgery by the age of 6 months. Children with Down syndrome may develop lung problems earlier and may need to have surgery at a younger age.
  • #2 Atrioventricular Canal Defects | Texas Children’s
    https://www.texaschildrens.org/content/conditions/atrioventricular-canal-defects
    Atrioventricular (AV) canal defects are congenital heart defects, meaning they are present at birth. The condition occurs when the heart doesn’t form correctly during fetal development. It is often associated with Down syndrome. It can be associated with other heart abnormalities as well. […] In addition, the tricuspid valve (right side of the heart) and mitral valve (left side of the heart) that control the flow of blood between the upper and lower chambers of the heart often are not formed correctly, causing them to leak. In many cases instead of two valves there is only a single common valve leading from the upper chambers into the bottom chambers of the heart (known as a common AV valve). As a result of these defects, excess blood flows to the lungs, causing the heart and lungs to work harder than normal. Untreated, an infant with an AV canal defect may have rapid breathing and difficulty growing. Surgery is typically performed during infancy to correct the defects.
  • #2 Atrioventricular Septal Defect > Fact Sheets > Yale Medicine
    https://www.yalemedicine.org/conditions/atrioventricular-septal-defect
    Symptoms include rapid breathing, shortness of breath, poor weight gain, poor growth, sweating, rapid heart rate […] Babies with a complete atrioventricular septal defect typically do not have symptoms until around a month or two after birth. Symptoms of a complete atrioventricular septal defect may include: Rapid breathing, Shortness of breath while eating, Poor weight gain, Sweating, Poor growth, Rapid heart rate […] Some babies with a partial atrioventricular septal defect may not exhibit symptoms as infants, although they may develop symptoms during adolescence or as young adults, including: Difficulty breathing while exercising, Fatigue, Heart palpitations […] People with transitional atrioventricular septal defects may not experience any symptoms in childhood. They may develop symptoms of heart failure if the hole in the wall separating the ventricles is large enough. Heart failure symptoms include shortness of breath, fatigue, and the buildup of fluid in the legs, among others. […] When a complete or partial atrioventricular septal defect worsens, a person with the condition may develop: Abnormal heart rhythms (arrhythmias), Congestive heart failure, Pulmonary hypertension.
  • #2 Atrioventricular Canal Defect (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/av-canal-defect.html
    A baby with a complete AV canal usually starts showing symptoms in the first days or weeks of life. These can include: wheezing or fast breathing, an irregular or fast heartbeat, not moving as much as other babies the same age, poor growth and weight gain, trouble feeding, blue lips, skin, and nails (called cyanosis). […] A baby with a partial AV canal may have milder symptoms that aren’t noticed until later in childhood or early adulthood. […] There is increased blood flow to the lungs, which can cause heart failure over time. And the blood that goes to the body doesn’t have enough oxygen in it for the baby to grow and thrive.
  • #2 Atrioventricular Canal Defects – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK557511/
    In patients with complete atrioventricular canal defects, mostly symptoms of pulmonary over circulation develop before the age of 6 months, and the severity of symptoms depends on the size and the type of the defects. […] Tachypnea and difficulty to gain weight are the first signs noticeable in patients with AV canal defects. The occurrence and severity of symptoms depend on the degree of AV valve regurgitation and other associated CHD, which can contribute to the early development of congestive heart failure (CHF). […] In patients with partial AV canal defect, symptoms might not be detected in the first few years of life and might manifest later in childhood. Of note, ostium primum atrial septal defect (ASD) seen in AV canal defects presents earlier than ostium secundum ASD. The most common presentation is for the evaluation of a murmur, heard secondary to increased flow across the pulmonary valve, which is heard best at the upper left sternal border.
  • #2 Atrioventricular Canal Defects – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK557511/
    Symptoms of Congestive Heart Failure: These include increased work of breathing, sweating while feeding, poor feeding, lethargy, or increased sleepiness. […] Signs of Congestive Heart Failure: These include tachypnea, tachycardia, failure to thrive (fall across two major centiles on the growth chart), wheezing or rales on lung auscultation, S3 gallop rhythm, apical displacement of the apical impulse, hepatomegaly, or increased jugular venous pressure (JVP). […] The patients will eventually start to develop left to right shunt irrespective of the type of defect, although the magnitude of the shunting depends on the type of defect. In complete AV canal defects, blood from the left to right flows through interatrial, interventricular, and AV valves, while in a partial defect, blood flows through the ostium primum. These individuals develop heart failure symptoms even before the age of one if it is not corrected.
  • #2 Atrioventricular Canal Defect (AVCD) | Cardinal Glennon
    https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/fetal-heart-program/heart-conditions/av-canal
    Symptoms of congestive heart failure typically develop over the first one to two months of life. These symptoms include trouble feeding, excessive sleepiness, breathing problems, sweating and failure to thrive. […] For complete AVCD, surgery is typically performed in the first four to six months of life. […] For partial defects, surgery is typically performed around two to four years of age.
  • #2 Atrioventricular Canal (AVC) Defects | Children’s Hospital of Philadelphia
    https://www.chop.edu/conditions-diseases/atrioventricular-canal-defects
    In a complete atrioventricular canal defect, the following symptoms may be present within several days or weeks of birth: […] Blue or purple tint to lips, skin and nails (cyanosis) […] Difficulty breathing […] Poor weight gain and growth […] Heart murmur: the heart sounds abnormal when a doctor listens with a stethoscope. […] Partial atrioventricular canal defects may cause fewer symptoms than some other heart defects and may not be diagnosed until later in children or rarely in early adulthood. Then, the young adult may begin to experience an irregular heartbeat (arrhythmia), leaky heart valves or other effects.
  • #2 About Atrioventricular Septal Defect | Congenital Heart Defects (CHDs) | CDC
    https://www.cdc.gov/heart-defects/about/atrioventricular-septal-defect.html
    Babies with a complete AVSD usually have symptoms within the first few weeks after birth. When symptoms occur, they may include: […] Certain symptoms may indicate that a baby’s complete AVSD or partial AVSD is getting worse. These symptoms include: […] For partial AVSDs, the holes between the chambers of the heart may not be large. Therefore, signs and symptoms may not occur in the newborn or infancy periods. In these cases, people with a partial AVSD might not be diagnosed for years.
  • #2 Atrioventricular canal defect – Vejthani Hospital | JCI Accredited International Hospital in Bangkok, Thailand.
    https://www.vejthani.com/diseases-conditions/atrioventricular-canal-defect/
    Signs and symptoms are not noticeable until early adulthood or cardiac complications develop such as high blood pressure in the lung, heart failure or heart valve problems. […] Signs and symptoms of partial AVSD can include: Heart arrhythmia, Shortness of breath or breathing difficulty, Chest pain, Dry cough, Swelling of legs and feet, Loss of appetite, Tiredness or fatigue, Inability to work out.
  • #2 Atrioventricular Canal Defect – Irish Congenital Heart Centre
    https://congenitalheartcentre.ie/congenital-heart-conditions/atrioventricular-canal-defect/
    Atrioventricular canal defect can involve only the two upper chambers of the heart (partial) or all four chambers (complete). In either type, extra blood circulates in the lungs. […] Signs and symptoms usually develop in the first several weeks of life. These signs and symptoms are generally similar to those associated with heart failure and might include: Difficulty breathing or rapid breathing, Wheezing, Fatigue, Lack of appetite, Poor weight gain, Pale skin color, Bluish discoloration of the lips and skin, Excessive sweating, Irregular or rapid heartbeat, Swelling in the legs, ankles and feet (edema). […] Signs and symptoms might not appear until early adulthood and might be related to complications that develop as a result of the defect. These signs and symptoms can include: Abnormal heartbeat (arrhythmia), Shortness of breath, High blood pressure in the lungs (pulmonary hypertension), Heart valve problems, Heart failure. […] Untreated, atrioventricular canal defect can cause heart failure and high blood pressure in the lungs.
  • #2 Atrioventricular Septal Defects – Children’s Health Issues – MSD Manual Consumer Version
    https://www.msdmanuals.com/home/children-s-health-issues/birth-defects-of-the-heart/atrioventricular-septal-defects
    Children who have no defect in the ventricle or only a small defect may have no symptoms. […] If the ventricular septal defect is large, infants may have difficulty breathing while they are eating, poor growth, a rapid heart rate, and sweating. […] Complete atrioventricular septal defect often causes a large left-to-right shunt, which means some blood that has already picked up oxygen from the lungs goes through the hole and back to the lungs. These infants may develop heart failure, which causes symptoms such as rapid breathing, shortness of breath while eating, poor weight gain, failure to thrive, and sweating by age 4 to 6 weeks. Eventually, the blood vessels between the lungs and the heart may develop high blood pressure (pulmonary hypertension) and lead to heart failure or reversal of the shunt to right-to-left (Eisenmenger syndrome).
  • #2 Pediatric Atrioventricular Canal (AV canal or AVC) – Conditions and Treatments | Children’s National Hospital
    https://www.childrensnational.org/get-care/health-library/atrioventricular-canal-av-canal-or-avc
    If left untreated, an AV canal defect can cause several problems. […] Blue coloring to your child’s skin, lips, and nails. As the arteries in the lungs get thicker, less blood will flow from the left to the right side of the heart and to the lungs. It will be easier for oxygen-poor (blue) blood to flow from the right side into the left side of the heart and on to the rest of the body. This stops the body from getting enough oxygen. This causes a blue coloring to your child’s skin, lips and nails. […] Many children who have had an AV canal defect will live active, healthy lives after their surgery. Their activity levels, appetite, and growth will return to normal over time. Some children will still have heart valve problems after surgery. They may eventually need another surgery to repair or replace the leaky or blocked valve or valves.
  • #2 Atrioventricular Canal Defects | Thoracic Key
    https://thoracickey.com/atrioventricular-canal-defects/
    Physical examination often reveals a variety of cardiac murmurs. A systolic ejection murmur may be found in the pulmonary area because of increased flow across the pulmonary valve. A holosystolic apical murmur is also present when left AV valve regurgitation is significant. The ASD and VSD may also have associated cardiac murmurs. A chest radiograph often reveals enlargement of the pulmonary artery. The film may also show right ventricular hypertrophy as symptoms of failure progress and left ventricular enlargement with significant left AV valve regurgitation. […] The natural history of untreated AVSD depends on the morphology of the lesion and dictates the indications and timing of surgical intervention. Partial AVSD without significant left AV valve regurgitation has a natural history similar to that of secundum ASD. Up to 15% of patients may develop high pulmonary arteriolar resistance in their adult life. The development of symptoms in adulthood often relates to the onset of atrial fibrillation. The natural history of partial AVSD with significant left AV valve regurgitation is much worse. These patients present earlier in life, and without surgical treatment, many may die in the first decade of life. Infants with complete AVSD have an even more malignant presentation, and without surgical correction, the majority die within the first year of life.
  • #2 Atrioventricular Septal Defect – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK562194/
    Symptoms of heart failure in infants may include difficulty in feeding, sleepiness, lethargy, and failure to thrive, while children may have a complaint of dyspnea. […] In patients with complete atrioventricular septal defect, signs of pulmonary congestion, and right heart failure develop in early infancy due to significant left to right shunt as pulmonary vascular resistance drops after birth. Heart failure and Eisenminger may develop even earlier if these patients have associated atrioventricular valve regurgitation, ventricular imbalance, or coarctation of the aorta. […] Signs of heart failure include: Tachypnea, tachycardia, S3 gallop, rales on chest auscultation, raised jugular venous pressure, tender hepatomegaly, wide fixed splitting due to atrial septal defect, pansystolic murmur due to atrioventricular valve regurgitation, pulmonary flow murmur due to increased flow through the pulmonary valve, mid diastolic flow murmur due to increased flow through the tricuspid valve.
  • #2 Atrioventricular Septal Defect – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK562194/
    The prognosis of untreated atrioventricular septal defect is dismal. Around 50% of the patients die during infancy, either due to heart failure or pulmonary infections. […] Patients undergoing surgical repair have 15 years of survival of around 90%, and 9% to 10% of those require reoperation within 15 years.
  • #2 Atrioventricular (AV) Canal Defect | Boston Children’s Hospital
    https://www.childrenshospital.org/conditions/atrioventricular-canal-defect
    A child with atrioventricular canal defect (AV canal) will usually develop symptoms within the first few weeks to months of life. These symptoms may include: Disinterest in feeding, or tiring while feeding […] Poor weight gain […] Fatigue […] Sweating […] Pale skin […] Cool skin […] Rapid breathing […] Heavy breathing […] Rapid heart rate […] Congested breathing […] Blue color. If your child has any of these symptoms, your pediatrician will probably refer you to a pediatric cardiologist for testing, diagnosis, and a determination of treatment. […] Many children who’ve had an AV-canal repair will live healthy lives. Activity levels, appetite, and growth typically return to normal in most children. Some children will still have some degree of mitral- or tricuspid-valve abnormality or leakage after surgery, which may require another operation in the future. Children with AV canal will need lifelong monitoring (some will need medication), since they will always be at some risk for arrhythmias, infections, heart failure, or stroke.
  • #2 Atrioventricular canal defect – Diagnosis & treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/atrioventricular-canal-defect/diagnosis-treatment/drc-20361528
    Atrioventricular canal defect might be diagnosed in a baby before birth during a pregnancy ultrasound or special heart imaging. […] After birth, symptoms of complete atrioventricular canal defect are usually noticeable within the first weeks. When listening to a baby’s heart, a health care provider might hear a whooshing sound. The sound is called a heart murmur. […] Many people who have corrective surgery for atrioventricular canal defect don’t need more surgery. However, some complications, such as heart valve leaks, may require treatment.
  • #2 Clinical Practice Algorithm For the Follow-Up of Repaired and Unrepaired Atrioventricular Septal Defects – American College of Cardiology
    https://www.acc.org/Latest-in-Cardiology/Articles/2025/02/03/12/17/Clinical-Practice-Algorithm-For-the-Follow-Up-of-Repaired-and-Unrepaired-Atrioventricular-Septal-Defects
    Timing of surgical referral for pediatric atrioventricular septal defect (AVSD) is dependent on the subtype of AVSD with repair in infancy (3-6 months) for complete AVSD and repair during toddler years (12-36 months) for partial/transitional AVSD. […] Left atrioventricular valve insufficiency and left ventricular outflow tract obstruction are the most common postoperative complications and may warrant frequent follow-up and potential reintervention. […] Older children and adults with unrepaired AVSD may require diagnostic cardiac catheterization before surgery, with additional management decisions guided by hemodynamic findings.
  • #2 Atrioventricular (AV) Canal Defect in Children
    http://library.oumedicine.com/MentalHealth/90,P01767
    As the arteries in the lungs get thicker, less blood will flow from the left to the right side of the heart and to the lungs. It will be easier for oxygen-poor (blue) blood to flow from the right side into the left side of the heart and on to the rest of the body. This stops the body from getting enough oxygen. This causes a blue coloring to your child’s skin, lips, and nails. […] Many children who have had an AV canal defect will live active, healthy lives after their surgery. Their activity levels, appetite, and growth will return to normal over time. Some children will still have heart valve problems after surgery. They may eventually need another surgery to repair or replace the leaky or blocked valve or valves.
  • #2 Atrioventricular (AV) Canal Defect in Children
    https://library.ouhealth.com/library/Wellness/YourBody/90,P01767
    The symptoms of AV canal defect may be similar to symptoms caused by other heart problems. […] Babies with AV canal defects often have symptoms. They can include: Tiredness, Sweating, Pale, cool skin, Fast, heavy breathing, Fast heart rate, Chest congestion, Trouble feeding, Not enough weight gain. […] Your child’s symptoms depend on the size of their septal openings. The larger the openings, the more blood is able to pass through them. This can overload your child’s heart and lungs. This means that your child’s symptoms may be more severe. […] Over time, the pressure in your child’s lungs will force blood back to their heart. This blood has low oxygen levels, and it’s sent to the rest of the body. This causes your child’s lips, nail beds, and skin to turn blue (cyanosis). […] Most children have surgery by the age of 6 months. Children with Down syndrome may develop lung problems earlier and may need to have surgery at a younger age.
  • #3 Complete Atrioventricular Canal defect (CAVC) | American Heart Association
    https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/complete-atrioventricular-canal-defect-cavc
    A child with AV canal defect may breathe faster and harder than normal. Infants may have trouble feeding and growing at a normal rate. Symptoms may not occur until several weeks after birth. High pressure may occur in the blood vessels in the lungs because more blood than normal is being pumped there. Over time this causes permanent damage to the lung blood vessels. […] High pressure may occur in the blood vessels in the lungs that can lead to permanent damage with pulmonary hypertension that persists into adulthood. […] Many adults who have not had previous repair have pulmonary hypertension (see Eisenmenger’s syndrome). This complication is more common than in patients with an ASD or a VSD. Even in adults without Eisenmenger’s syndrome, symptoms including shortness of breath, intolerance to exercise and palpitations are common. On physical examinations, murmurs due to the blood flow across the defects and due to the valve leak are common.
  • #3 Atrioventricular Septal Defects – Children’s Health Issues – MSD Manual Consumer Version
    https://www.msdmanuals.com/home/children-s-health-issues/birth-defects-of-the-heart/atrioventricular-septal-defects
    Children with transitional AV septal defects may have no symptoms if the ventricular defect is small. Children with larger defects may have signs of heart failure. […] Partial AV septal defects do not usually cause symptoms during childhood unless valve leakage (regurgitation) is severe. However, symptoms (eg, exercise intolerance, fatigue, palpitations) may develop during adolescence or early adulthood. Infants with moderate or severe valve regurgitation often have signs of heart failure.