Materiały źródłowe

• #1 Atrioventricular (AV) Canal Defect | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/atrioventricular-canal-defect

  An atrioventricular canal defect, or AV canal, is a combination of several closely associated heart problems that result in a large defect in the center of the heart. Also known as atrioventricular septal defect or endocardial cushion defect, the condition is congenital, which means it is present at birth, and occurs in two out of every 10,000 newborns. It is often associated with Down syndrome. […] Like many congenital heart conditions, AV canal defect isn’t actually a single defect but rather a group of closely associated defects in various combinations and with varying degrees of severity: Atrial septal defect, Ventricular septal defect, Abnormalities of the AV valves (mitral and tricuspid) that separate the upper heart chambers (atria) from the lower chambers (ventricles), often resulting in one large “common” valve rather than two separate valves.

• #2 Atrioventricular Canal Defect – Children’s Hospital of Orange County

  https://choc.org/heart/congenital-heart-defects/atrioventricular-canal-defect/

  Atrioventricular canal (AV canal or AVC) defect is a congenital heart defect. That means it is present at birth. Other terms used to describe this defect are endocardial cushion defect and atrioventricular septal defect (AVSD). […] As the fetus is growing, something occurs to affect heart development during the first 8 weeks of pregnancy, and certain areas of the heart do not form properly. […] Atrioventricular canal defects occur in a small percentage of congenital heart disease cases and are more common in infants with Down syndrome. […] The heart forms during the first 8 weeks of fetal development. It begins as a hollow tube, then partitions within the tube develop that eventually become the septa (or walls) dividing the right side of the heart from the left. Atrial and ventricular septal defects occur when the partitioning process does not occur completely, leaving openings in the atrial and ventricular septum. The valves that separate the upper and lower heart chambers are being formed in the latter portion of this period, and they too do not develop properly.

• #3 Atrioventricular Canal Defect – Kidshealth | Akron Children’s

  https://www.akronchildrens.org/kidshealth/en/parents/av-canal-defect.html

  An atrioventricular canal defect (AV canal for short) is a heart problem in which the center of a baby’s heart does not form normally before birth. […] The exact cause of AV canal isn’t known. It happens early in pregnancy while the fetus is first developing. There is no way to prevent it. […] AV canal is more common in babies with Down syndrome.

• #4 About Atrioventricular Septal Defect | Congenital Heart Defects (CHDs) | CDC

  https://www.cdc.gov/heart-defects/about/atrioventricular-septal-defect.html

  Atrioventricular septal defect (pronounced EY-tree-oh-ven-TRIC-u-lar SEP-tal DEE-fekt) or AVSD is a congenital heart defect. Congenital means present at birth. […] The causes of AVSDs among most babies are unknown. Some babies have heart defects because of changes in their genes or chromosomes. A combination of genes and other risk factors may increase the risk for AVSD. These factors can include things in a mother’s environment, what she eats or drinks, or the medications she uses during pregnancy.

• #5 Atrioventricular Canal Defect (AVCD) | surjen | Surjen care

  https://www.surjen.com/surgery-detail/atrioventricular-canal-defect-avc

  Down syndrome (Trisomy 21): Individuals with Down syndrome have an increased risk of AV canal defect, with approximately 40-50% of affected individuals exhibiting this cardiac anomaly. […] Mutations in specific genes involved in cardiac development and function may also contribute to the development of AV canal defects. […] In addition to genetic factors, environmental exposures during pregnancy may influence the risk of atrioventricular canal defects. […] Certain maternal health conditions, lifestyle factors, and exposures to toxins or medications have been implicated as potential environmental risk factors for AV canal defects. […] Factors that may enlarge a baby’s risk of developing atrioventricular canal defect prior to birth include: Down syndrome, Smoking when pregnant, German measles (rubella) or every other viral illness during a mother’s early pregnancy, Alcohol intake during pregnancy, Poorly controlled diabetes throughout pregnancy.

• #6 Atrioventricular (AV) Canal Defect | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/atrioventricular-canal-defect

  Genetics may play a role in the development of AV canal defect. Many children have associated genetic syndromes. About 15 to 20 percent of children with Down syndrome also have AV canal defect. […] When the heart is forming during the first eight weeks of fetal development, it begins as a hollow tube. Over time, partitions that form within the tube eventually become the walls dividing the right side of the heart from the left. Atrial and ventricular septal defects occur when the partitioning process doesn’t occur completely, leaving openings in the atrial and ventricular walls. The valves that separate the upper and lower heart chambers are formed toward the end of this eight-week period, and often they don’t develop properly. Frequently, instead of two separate AV valves (tricuspid and mitral valve), there is a single large common valve that sits between the upper and lower chambers of the heart, allowing blood to flow freely between the chambers above and below the valve — mixing oxygen-rich and oxygen-poor blood.

• #7 Atrioventricular Canal Defect – Children’s Hospital of Orange County

  https://choc.org/heart/congenital-heart-defects/atrioventricular-canal-defect/

  Genetic influences may contribute to the development of atrioventricular canal defect. […] Half of all children born with Down syndrome have congenital heart disease (CHD). Close to half of these cases have an AV canal defect. Down syndrome is caused by the presence of three #21 chromosomes in the cells of the body, rather than the usual pair #21 chromosomes. […] Similarly, about one-third of all children born with AV canal defect also have Down syndrome. […] Mothers with an AV canal defect are at increased risk of giving birth to a child with the disease. […] Other chromosome abnormalities (in addition to Down syndrome) are linked to this condition. Maternal age can have an effect on the prevalence of the defect.

• #8 Atrioventricular Septal Defect – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562194/

  In almost all patients, the atrioventricular septal defect is caused by genetic mutations, and most of the time, it is associated with syndromes. Every six patients with Down syndrome have associated atrioventricular septal defect, and Down syndrome cell adhesion molecule (DSCAM) gene has been described to be associated with an atrioventricular septal defect and other congenital heart diseases in these patients. […] The other syndromes associated with the atrioventricular septal defect may include CHARGE, Ellis-van-Creveld, Smith-Lemli-Opitz, and 3p. Other than its association with syndromes, gene mutations associated with the atrioventricular septal defect can also be inherited as an autosomal dominant trait. Gestational diabetes and maternal obesity have also been reported to increase the risk of non-syndromic atrioventricular septal defects.

• #9 Atrioventricular Septal Defect – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562194/

  Enrichment of pathogenic variants has been observed in multiple genes VEGF-A, COL6A1, CRELD1, FBLN1, FRZB, GATA5, NOTCH4, and CEP290 among individuals with Down syndrome and AVC anomalies, suggesting a multifactorial and genetically heterogeneous basis for these defects. […] Beyond syndromic associations, familial clustering of AVC anomalies with an autosomal dominant inheritance pattern and incomplete penetrance has been documented, highlighting monogenic contributions. To date, five loci have been definitively associated with non-syndromic atrioventricular septal defects (AVSDs), designated AVSD1 through AVSD5.

• #10 Atrioventricular Canal Defects – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557511/

  Most of the AV canal defects are almost always associated with a syndromic abnormality. The syndromes that carry an association with AV canal defects are CHARGE, Down, Ellis-van-Creveld, Ivemark, Kaufman McKusick, Ritscher-Schinzel, Smith-Lemli-Opitz, and 3p. Down syndrome has a very strong association with AV canal defects.[2] […] Certain studies have proved that factors such as maternal gestational diabetes mellitus (GDM), pregestational diabetes mellitus, and obesity carry a significant association with the development of non-syndromic AV canal defects.[7]

• #11 Atrioventricular Septal Defect – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562194/

  In almost all patients, the atrioventricular septal defect is caused by genetic mutations, and most of the time, it is associated with syndromes. Every six patients with Down syndrome have associated atrioventricular septal defect, and Down syndrome cell adhesion molecule (DSCAM) gene has been described to be associated with an atrioventricular septal defect and other congenital heart diseases in these patients. […] The other syndromes associated with the atrioventricular septal defect may include CHARGE, Ellis-van-Creveld, Smith-Lemli-Opitz, and 3p. Other than its association with syndromes, gene mutations associated with the atrioventricular septal defect can also be inherited as an autosomal dominant trait. Gestational diabetes and maternal obesity have also been reported to increase the risk of non-syndromic atrioventricular septal defects.

• #12 Atrioventricular Canal Defect: What You Need to Know

  https://www.healthline.com/health/atrioventricular-canal-defect

  An atrioventricular canal is a congenital heart defect that connects chambers of your childs heart that shouldnt be connected. Atrioventricular canals usually require surgical treatment. […] It usually isnt known what causes an AV canal, but they occur in nearly half of people who also have Down syndrome. Theyre also associated with other genetic syndromes such as Ivemark syndrome and Smith-Lemli-Opitz syndrome. […] AV canal defects can be complete or partial. […] A complete AV canal is when a large hole forms in the middle of your heart and connects all four chambers. […] A partial AV canal occurs when a hole in the heart causes blood to flow through two chambers that are not normally connected. […] People with partial AV canals usually have fully formed valves in their heart, but one of their valves may not close properly.

• #13 Atrioventricular Septal Defect – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562194/

  Enrichment of pathogenic variants has been observed in multiple genes VEGF-A, COL6A1, CRELD1, FBLN1, FRZB, GATA5, NOTCH4, and CEP290 among individuals with Down syndrome and AVC anomalies, suggesting a multifactorial and genetically heterogeneous basis for these defects. […] Beyond syndromic associations, familial clustering of AVC anomalies with an autosomal dominant inheritance pattern and incomplete penetrance has been documented, highlighting monogenic contributions. To date, five loci have been definitively associated with non-syndromic atrioventricular septal defects (AVSDs), designated AVSD1 through AVSD5.

• #14 Atrioventricular Septal Defect – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562194/

  Enrichment of pathogenic variants has been observed in multiple genes VEGF-A, COL6A1, CRELD1, FBLN1, FRZB, GATA5, NOTCH4, and CEP290 among individuals with Down syndrome and AVC anomalies, suggesting a multifactorial and genetically heterogeneous basis for these defects. […] Beyond syndromic associations, familial clustering of AVC anomalies with an autosomal dominant inheritance pattern and incomplete penetrance has been documented, highlighting monogenic contributions. To date, five loci have been definitively associated with non-syndromic atrioventricular septal defects (AVSDs), designated AVSD1 through AVSD5.

• #15 Genetics of atrioventricular canal defects | Italian Journal of Pediatrics | Full Text

  https://ijponline.biomedcentral.com/articles/10.1186/s13052-020-00825-4

  Atrioventricular canal defect (AVCD) represents a quite common congenital heart defect (CHD) accounting for 7.4% of all cardiac malformations. […] AVCD has also been described in several pedigrees suggesting a pattern of familiar recurrence. […] Given the complexity of cardiac embryology, it is not surprising that multiple genes deeply implicated in cardiogenesis have been described mutated in patients with AVCD. […] The AVCD is associated with extracardiac defects in about 75% of the cases and presents strong genetic association. […] The best known genetic syndrome associated with AVCD is Down syndrome (DS) (45% of the cases). […] It is notable that among non-syndromic cases, a percentage of about 3.5% show a familial pattern of recurrence. […] It is noteworthy that AVCD displays anatomic variability possibly related to different and distinct genetic causes.

• #16 Genetics of atrioventricular canal defects | Italian Journal of Pediatrics | Full Text

  https://ijponline.biomedcentral.com/articles/10.1186/s13052-020-00825-4

  In fact, clinical and molecular studies have demonstrated that several disease genes implicated in syndromes with AVCD encode proteins that participate in ciliary function. […] A link between AVCD and cilia abnormalities through a specific pathogenetic pathway involving Hedgehog signaling has been recognized in several syndromes with AVCD. […] The studies cited above indicate that isolated non-syndromic AVCD is a highly genetically heterogeneous malformation that probably requires an unknown combination of factors to break the theoretical disease threshold. […] Noteworthy, specific genes implicated in different steps of cardiogenesis can have a contributory role in different CHD. […] The molecular basis of familial AVCD are largely unknown. […] Some genes deeply implicated in cardiogenesis have been found in pedigrees with AVCD.

• #17 Atrioventricular (AV) Canal Defect | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/atrioventricular-canal-defect

  Genetics may play a role in the development of AV canal defect. Many children have associated genetic syndromes. About 15 to 20 percent of children with Down syndrome also have AV canal defect. […] When the heart is forming during the first eight weeks of fetal development, it begins as a hollow tube. Over time, partitions that form within the tube eventually become the walls dividing the right side of the heart from the left. Atrial and ventricular septal defects occur when the partitioning process doesn’t occur completely, leaving openings in the atrial and ventricular walls. The valves that separate the upper and lower heart chambers are formed toward the end of this eight-week period, and often they don’t develop properly. Frequently, instead of two separate AV valves (tricuspid and mitral valve), there is a single large common valve that sits between the upper and lower chambers of the heart, allowing blood to flow freely between the chambers above and below the valve — mixing oxygen-rich and oxygen-poor blood.

• #18 Atrioventricular Canal (AVC) Defect | Children’s Mercy Kansas City

  https://www.childrensmercy.org/departments-and-clinics/heart-center/understanding-atrioventricular-canal-defect/

  Atrioventricular (AV) canal defects are a relatively common family of congenital heart defects anatomical differences that are present at birth. […] Atrioventricular canal defect is a complex heart problem that involves several abnormalities of structures inside the heart, including the following: […] When the heart is forming during the first eight weeks of fetal development, it begins as a hollow tube. The partitions that form within the tube eventually become the walls dividing the right side of the heart from the left side. Sometimes, as the fetus is growing, something occurs to affect heart development during the first eight weeks of pregnancy and certain areas of the heart do not form properly. […] Atrial and ventricular septal defects occur when the partitioning process doesn’t occur completely, leaving openings in the atrial and ventricular walls. The valves that separate the upper and lower heart chambers are formed toward the end of this eight-week period, and often they don’t develop properly either. Frequently, instead of two separate AV valves (tricuspid and mitral valve), there is a single large common valve that sits between the upper and lower chambers of the heart, allowing blood to flow freely between the chambers above and below the valve mixing oxygen-rich and oxygen-poor blood.

• #19 Atrioventricular septal defect – Wikipedia

  https://en.wikipedia.org/wiki/Atrioventricular_septal_defect

  AVCD is caused by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum.[3] […] Other risk factors include: having a parent with a congenital heart defect, alcohol use while pregnant, uncontrolled diabetes treatment during pregnancy and some medications during pregnancy.[5] […] Like other congenital heart defects, major associations have been found between AVCD and genes regulating embryonic cell cilia.[10] […] Chromosome 21 harbors important regulators for cilia, and trisomy 21 (Down syndrome) can de-regulate them.[12]

• #20 Atrioventricular Septal Defects (AVSD) – TeachMePaediatrics

  https://teachmepaediatrics.com/cardiology/congenital-heart-defects/atrioventricular-septal-defects-avsd/

  In normal development, the primitive AV canal connects the atria to the ventricles. At 4-5 weeks of gestation, the superior and inferior endocardial cushions of the common AV canal fuse and contribute to formation of AV valves (mitral and tricuspid) and the AV septum. […] Defects arise due to failure of endocardial cushions to fuse correctly leading to apical displacement of AV valves and causing the inlet portion of ventricular septum to be scooped out. […] Complete failure of superior and inferior endocardial cushions to fuse causes an ASD (primum atrial septal defect) and VSD (ventricular septal defect) and a single common atrio ventricular valve. […] Incomplete fusion between the superior and inferior endocardial cushions results in partial AV canal defects with a primum ASD, a common valvular annulus with two separate AV valve orifices, and a cleft in anterior mitral leaflet.

• #21 Atrioventricular Septal Defects (AVSD) – TeachMePaediatrics

  https://teachmepaediatrics.com/cardiology/congenital-heart-defects/atrioventricular-septal-defects-avsd/

  In normal development, the primitive AV canal connects the atria to the ventricles. At 4-5 weeks of gestation, the superior and inferior endocardial cushions of the common AV canal fuse and contribute to formation of AV valves (mitral and tricuspid) and the AV septum. […] Defects arise due to failure of endocardial cushions to fuse correctly leading to apical displacement of AV valves and causing the inlet portion of ventricular septum to be scooped out. […] Complete failure of superior and inferior endocardial cushions to fuse causes an ASD (primum atrial septal defect) and VSD (ventricular septal defect) and a single common atrio ventricular valve. […] Incomplete fusion between the superior and inferior endocardial cushions results in partial AV canal defects with a primum ASD, a common valvular annulus with two separate AV valve orifices, and a cleft in anterior mitral leaflet.

• #22 Atrioventricular Septal Defects (AVSD) – TeachMePaediatrics

  https://teachmepaediatrics.com/cardiology/congenital-heart-defects/atrioventricular-septal-defects-avsd/

  In normal development, the primitive AV canal connects the atria to the ventricles. At 4-5 weeks of gestation, the superior and inferior endocardial cushions of the common AV canal fuse and contribute to formation of AV valves (mitral and tricuspid) and the AV septum. […] Defects arise due to failure of endocardial cushions to fuse correctly leading to apical displacement of AV valves and causing the inlet portion of ventricular septum to be scooped out. […] Complete failure of superior and inferior endocardial cushions to fuse causes an ASD (primum atrial septal defect) and VSD (ventricular septal defect) and a single common atrio ventricular valve. […] Incomplete fusion between the superior and inferior endocardial cushions results in partial AV canal defects with a primum ASD, a common valvular annulus with two separate AV valve orifices, and a cleft in anterior mitral leaflet.

• #23 Atrioventricular canal defect | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/atrioventricular-canal-defect

  Atrioventricular canal defect occurs before birth when a baby’s heart is developing. Experts aren’t sure of the cause. Having Down syndrome might increase the risk. […] Things that might increase the risk of atrioventricular canal defect include: […] Genetics. Congenital heart disease appears to run in families. It’s associated with many genetic syndromes. For instance, children with Down syndrome often have heart problems present at birth. […] German measles, also called rubella. Having rubella during pregnancy may affect how the baby’s heart develops while in the womb. […] Diabetes. Poorly controlled diabetes during pregnancy may affect a baby’s heart development. Gestational diabetes generally doesn’t increase the risk of congenital heart disease. […] Alcohol use. Drinking alcohol while pregnant has been linked to an increased risk of heart defects in the baby.

• #24 Atrioventricular Canal (AVC) Defect

  https://my.clevelandclinic.org/health/diseases/22128-atrioventricular-canal-defect

  An atrioventricular canal defect is a congenital (present at birth) heart condition. It means theres a hole in the center of your childs heart and issues with the valves in their heart. It may affect some or all heart chambers. […] Researchers are unclear about what causes atrioventricular septal defect. Its likely a combination of genetic and environmental factors. Theres a strong correlation between this congenital heart condition and Down syndrome. Atrioventricular septal defect occur in up to 40% of fetuses with this syndrome. […] Experts havent identified the exact risk factors for atrioventricular septal defect. Genetics may be a factor. A fetus can inherit an abnormal gene or genes from a parent, which may make them more likely to develop a heart condition in the uterus. […] Other risk factors during pregnancy that may increase the chances of giving birth to a baby with a congenital heart issue include: Certain medications. Recreational drugs. Alcohol-containing beverages. Exposure to environmental toxins or chemicals. Nutrient or vitamin deficiencies. Obesity. Tobacco products. Unmanaged chronic health conditions like diabetes or high blood pressure (hypertension). Viruses or fevers, like influenza (flu).

• #25 Atrioventricular Canal Defects – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557511/

  Most of the AV canal defects are almost always associated with a syndromic abnormality. The syndromes that carry an association with AV canal defects are CHARGE, Down, Ellis-van-Creveld, Ivemark, Kaufman McKusick, Ritscher-Schinzel, Smith-Lemli-Opitz, and 3p. Down syndrome has a very strong association with AV canal defects.[2] […] Certain studies have proved that factors such as maternal gestational diabetes mellitus (GDM), pregestational diabetes mellitus, and obesity carry a significant association with the development of non-syndromic AV canal defects.[7]

• #26 Atrioventricular canal defect | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/atrioventricular-canal-defect

  Atrioventricular canal defect occurs before birth when a baby’s heart is developing. Experts aren’t sure of the cause. Having Down syndrome might increase the risk. […] Things that might increase the risk of atrioventricular canal defect include: […] Genetics. Congenital heart disease appears to run in families. It’s associated with many genetic syndromes. For instance, children with Down syndrome often have heart problems present at birth. […] German measles, also called rubella. Having rubella during pregnancy may affect how the baby’s heart develops while in the womb. […] Diabetes. Poorly controlled diabetes during pregnancy may affect a baby’s heart development. Gestational diabetes generally doesn’t increase the risk of congenital heart disease. […] Alcohol use. Drinking alcohol while pregnant has been linked to an increased risk of heart defects in the baby.

• #27 Atrioventricular Septal Defect – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562194/

  In almost all patients, the atrioventricular septal defect is caused by genetic mutations, and most of the time, it is associated with syndromes. Every six patients with Down syndrome have associated atrioventricular septal defect, and Down syndrome cell adhesion molecule (DSCAM) gene has been described to be associated with an atrioventricular septal defect and other congenital heart diseases in these patients. […] The other syndromes associated with the atrioventricular septal defect may include CHARGE, Ellis-van-Creveld, Smith-Lemli-Opitz, and 3p. Other than its association with syndromes, gene mutations associated with the atrioventricular septal defect can also be inherited as an autosomal dominant trait. Gestational diabetes and maternal obesity have also been reported to increase the risk of non-syndromic atrioventricular septal defects.

• #28 Atrioventricular Canal Defect – Causes, Symptoms, Diagnosis, and Treatment

  https://www.apollohospitals.com/diseases-and-conditions/atrioventricular-canal-defect

  Atrioventricular Canal Defect (AV Canal Defect) is a congenital heart condition that affects the heart’s structure and function. […] While the exact cause of AV Canal Defect is often unknown, certain infectious agents and environmental factors during pregnancy may contribute to its development. […] Genetic factors are significant contributors to the development of AV Canal Defect. […] Maternal lifestyle choices and dietary habits can influence the risk of AV Canal Defect. […] Women over the age of 35 are at a higher risk of having a child with congenital heart defects. […] Certain regions may have higher incidences of congenital heart defects due to environmental factors or genetic predispositions. […] Conditions such as diabetes, obesity, and certain autoimmune diseases in mothers can increase the risk of AV Canal Defect.

• #29 Atrioventricular canal defect | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/atrioventricular-canal-defect

  Atrioventricular canal defect occurs before birth when a baby’s heart is developing. Experts aren’t sure of the cause. Having Down syndrome might increase the risk. […] Things that might increase the risk of atrioventricular canal defect include: […] Genetics. Congenital heart disease appears to run in families. It’s associated with many genetic syndromes. For instance, children with Down syndrome often have heart problems present at birth. […] German measles, also called rubella. Having rubella during pregnancy may affect how the baby’s heart develops while in the womb. […] Diabetes. Poorly controlled diabetes during pregnancy may affect a baby’s heart development. Gestational diabetes generally doesn’t increase the risk of congenital heart disease. […] Alcohol use. Drinking alcohol while pregnant has been linked to an increased risk of heart defects in the baby.

• #30 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. […] The cause is typically unknown. The condition occurs in the first eight weeks of fetal development as the heart is forming. The tissues that form the septum don’t completely grow together, leaving a hole in the wall. The heart valves also don’t form properly. […] Factors that may increase the risk of an AV canal defect include: German measles (rubella) in the mother early in pregnancy, Alcohol or tobacco use during pregnancy, Uncontrolled diabetes in the mother during pregnancy, Certain medications taken during pregnancy, Having a parent who had a congenital heart defect, Having a genetic abnormality such as Down syndrome (trisomy 21).

• #31 Atrioventricular canal defect | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/atrioventricular-canal-defect

  Atrioventricular canal defect occurs before birth when a baby’s heart is developing. Experts aren’t sure of the cause. Having Down syndrome might increase the risk. […] Things that might increase the risk of atrioventricular canal defect include: […] Genetics. Congenital heart disease appears to run in families. It’s associated with many genetic syndromes. For instance, children with Down syndrome often have heart problems present at birth. […] German measles, also called rubella. Having rubella during pregnancy may affect how the baby’s heart develops while in the womb. […] Diabetes. Poorly controlled diabetes during pregnancy may affect a baby’s heart development. Gestational diabetes generally doesn’t increase the risk of congenital heart disease. […] Alcohol use. Drinking alcohol while pregnant has been linked to an increased risk of heart defects in the baby.

• #32 Atrioventricular septal defect: Definition, symptoms, and more

  https://www.medicalnewstoday.com/articles/atrioventricular-septal-defect

  The causes of AVSDs are unknown. […] However, the CDC notes that certain genetic changes may increase the risk of developing an AVSD. For example, it states that AVSDs are common in babies with Down syndrome. […] In addition to genetic changes, environmental factors that a parent experiences exposure to during pregnancy can also increase the risk of congenital heart defects, such as AVSDs. […] Factors that contribute to the likelihood of a congenital heart defect may include: alcohol consumption, smoking, exposure to air pollutants, becoming pregnant later in life. […] Some pharmacological treatments may also increase the risk of a heart defect.

• #33 Atrioventricular canal defect | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/atrioventricular-canal-defect

  Smoking. If you smoke, quit. Smoking during pregnancy increases the risk of congenital heart defects in the baby. […] Some medicines. Taking certain medications while pregnant may cause heart problems and other birth defects in the baby. Always tell your health care provider about the medications you take.

• #34 Atrioventricular canal defect | Altru Health System

  https://www.altru.org/health-library/conditions/atrioventricular-canal-defect

  Smoking. If you smoke, quit. Smoking during pregnancy increases the risk of congenital heart defects in the baby. […] Some medicines. Taking certain medications while pregnant may cause heart problems and other birth defects in the baby. Always tell your health care provider about the medications you take.

• #35 Atrioventricular canal defect | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/atrioventricular-canal-defect

  Smoking. If you smoke, quit. Smoking during pregnancy increases the risk of congenital heart defects in the baby. […] Some medicines. Taking certain medications while pregnant may cause heart problems and other birth defects in the baby. Always tell your health care provider about the medications you take.

• #36 Atrioventricular Canal (AVC) Defect

  https://my.clevelandclinic.org/health/diseases/22128-atrioventricular-canal-defect

  An atrioventricular canal defect is a congenital (present at birth) heart condition. It means theres a hole in the center of your childs heart and issues with the valves in their heart. It may affect some or all heart chambers. […] Researchers are unclear about what causes atrioventricular septal defect. Its likely a combination of genetic and environmental factors. Theres a strong correlation between this congenital heart condition and Down syndrome. Atrioventricular septal defect occur in up to 40% of fetuses with this syndrome. […] Experts havent identified the exact risk factors for atrioventricular septal defect. Genetics may be a factor. A fetus can inherit an abnormal gene or genes from a parent, which may make them more likely to develop a heart condition in the uterus. […] Other risk factors during pregnancy that may increase the chances of giving birth to a baby with a congenital heart issue include: Certain medications. Recreational drugs. Alcohol-containing beverages. Exposure to environmental toxins or chemicals. Nutrient or vitamin deficiencies. Obesity. Tobacco products. Unmanaged chronic health conditions like diabetes or high blood pressure (hypertension). Viruses or fevers, like influenza (flu).

• #37 Atrioventricular septal defect: Definition, symptoms, and more

  https://www.medicalnewstoday.com/articles/atrioventricular-septal-defect

  The causes of AVSDs are unknown. […] However, the CDC notes that certain genetic changes may increase the risk of developing an AVSD. For example, it states that AVSDs are common in babies with Down syndrome. […] In addition to genetic changes, environmental factors that a parent experiences exposure to during pregnancy can also increase the risk of congenital heart defects, such as AVSDs. […] Factors that contribute to the likelihood of a congenital heart defect may include: alcohol consumption, smoking, exposure to air pollutants, becoming pregnant later in life. […] Some pharmacological treatments may also increase the risk of a heart defect.

• #38 Atrioventricular Canal (AVC) Defect

  https://my.clevelandclinic.org/health/diseases/22128-atrioventricular-canal-defect

  An atrioventricular canal defect is a congenital (present at birth) heart condition. It means theres a hole in the center of your childs heart and issues with the valves in their heart. It may affect some or all heart chambers. […] Researchers are unclear about what causes atrioventricular septal defect. Its likely a combination of genetic and environmental factors. Theres a strong correlation between this congenital heart condition and Down syndrome. Atrioventricular septal defect occur in up to 40% of fetuses with this syndrome. […] Experts havent identified the exact risk factors for atrioventricular septal defect. Genetics may be a factor. A fetus can inherit an abnormal gene or genes from a parent, which may make them more likely to develop a heart condition in the uterus. […] Other risk factors during pregnancy that may increase the chances of giving birth to a baby with a congenital heart issue include: Certain medications. Recreational drugs. Alcohol-containing beverages. Exposure to environmental toxins or chemicals. Nutrient or vitamin deficiencies. Obesity. Tobacco products. Unmanaged chronic health conditions like diabetes or high blood pressure (hypertension). Viruses or fevers, like influenza (flu).

• #39 Atrioventricular Canal Defect – Children’s Hospital of Orange County

  https://choc.org/heart/congenital-heart-defects/atrioventricular-canal-defect/

  Genetic influences may contribute to the development of atrioventricular canal defect. […] Half of all children born with Down syndrome have congenital heart disease (CHD). Close to half of these cases have an AV canal defect. Down syndrome is caused by the presence of three #21 chromosomes in the cells of the body, rather than the usual pair #21 chromosomes. […] Similarly, about one-third of all children born with AV canal defect also have Down syndrome. […] Mothers with an AV canal defect are at increased risk of giving birth to a child with the disease. […] Other chromosome abnormalities (in addition to Down syndrome) are linked to this condition. Maternal age can have an effect on the prevalence of the defect.

• #40 Atrioventricular canal defect | AV canal defect | Children’s Wisconsin

  https://childrenswi.org/medical-care/herma-heart/conditions/atrioventricular-canal

  The development of AV canal defect (AVC) is rare and often linked to chromosome abnormalities such as those associated with Downs syndrome. […] There may be genetic influences on the development of atrioventricular canal. Consider the following statistics: […] Other chromosome abnormalities (in addition to Down syndrome) are linked to the development of AV canal defect. Maternal age can have an effect on the prevalence of AV canal, which may be related to the increased probability of a woman giving birth to a child with Down syndrome as she gets older.

• #41 Atrioventricular septal defect – Wikipedia

  https://en.wikipedia.org/wiki/Atrioventricular_septal_defect

  AVCD is caused by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum.[3] […] Other risk factors include: having a parent with a congenital heart defect, alcohol use while pregnant, uncontrolled diabetes treatment during pregnancy and some medications during pregnancy.[5] […] Like other congenital heart defects, major associations have been found between AVCD and genes regulating embryonic cell cilia.[10] […] Chromosome 21 harbors important regulators for cilia, and trisomy 21 (Down syndrome) can de-regulate them.[12]

• #42 Genetics of atrioventricular canal defects | Italian Journal of Pediatrics | Full Text

  https://ijponline.biomedcentral.com/articles/10.1186/s13052-020-00825-4

  In fact, clinical and molecular studies have demonstrated that several disease genes implicated in syndromes with AVCD encode proteins that participate in ciliary function. […] A link between AVCD and cilia abnormalities through a specific pathogenetic pathway involving Hedgehog signaling has been recognized in several syndromes with AVCD. […] The studies cited above indicate that isolated non-syndromic AVCD is a highly genetically heterogeneous malformation that probably requires an unknown combination of factors to break the theoretical disease threshold. […] Noteworthy, specific genes implicated in different steps of cardiogenesis can have a contributory role in different CHD. […] The molecular basis of familial AVCD are largely unknown. […] Some genes deeply implicated in cardiogenesis have been found in pedigrees with AVCD.

• #43 Atrioventricular septal defect – Wikipedia

  https://en.wikipedia.org/wiki/Atrioventricular_septal_defect

  AVCD is caused by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum.[3] […] Other risk factors include: having a parent with a congenital heart defect, alcohol use while pregnant, uncontrolled diabetes treatment during pregnancy and some medications during pregnancy.[5] […] Like other congenital heart defects, major associations have been found between AVCD and genes regulating embryonic cell cilia.[10] […] Chromosome 21 harbors important regulators for cilia, and trisomy 21 (Down syndrome) can de-regulate them.[12]

• #44 Genetics of atrioventricular canal defects | Italian Journal of Pediatrics | Full Text

  https://ijponline.biomedcentral.com/articles/10.1186/s13052-020-00825-4

  In fact, clinical and molecular studies have demonstrated that several disease genes implicated in syndromes with AVCD encode proteins that participate in ciliary function. […] A link between AVCD and cilia abnormalities through a specific pathogenetic pathway involving Hedgehog signaling has been recognized in several syndromes with AVCD. […] The studies cited above indicate that isolated non-syndromic AVCD is a highly genetically heterogeneous malformation that probably requires an unknown combination of factors to break the theoretical disease threshold. […] Noteworthy, specific genes implicated in different steps of cardiogenesis can have a contributory role in different CHD. […] The molecular basis of familial AVCD are largely unknown. […] Some genes deeply implicated in cardiogenesis have been found in pedigrees with AVCD.

• #45 Atrioventricular septal defect | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/atrioventricular-septal-defect?lang=us

  Atrioventricular septal defects can be broadly classified as 10: partial, intermediate, complete. […] Partial atrioventricular septal defect is also referred to as isolated primum interatrial defect with the presence of two valve orifices between the lower edge of the atrial septum and the atrioventricular valve leaflets 10. […] Intermediate atrioventricular septal defect with two valve orifices includes the presence of interventricular defect alone or a combination of primum interatrial and interventricular defects 10. […] Atrioventricular septal defect can also exist without any atrial septal defect or ventricular communication referred to as atrioventricular septal defect with intact septal structures 10. […] Complete atrioventricular septal defect consists of an interventricular communication, a primum interatrial defect, and a common atrioventricular valve orifice 10. […] Certain other rare types of atrioventricular septal defects include 10: Gerbode defect- presence of individual right and left atrioventricular junctions and deficient atrioventricular septum.

• #46 Atrioventricular Septal Defect – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/atrioventricular-septal-defect

  If a complete AV septal defect is unrepaired, over time the increase in pulmonary blood flow, pulmonary artery pressure, and pulmonary vascular resistance may lead to reversal of shunt direction with cyanosis and Eisenmenger syndrome. […] A transitional atrioventricular septal defect, also called a transitional AV canal defect, consists of an ostium primum atrial septal defect, a restrictive inlet ventricular septal defect, which may be small or moderate in size, and a common AV valve, which may or may not be partitioned into a left and right orifice. […] The hemodynamics depend largely on the size of the VSD and whether there is significant AV valve regurgitation. […] A partial AV septal defect consists of an ostium primum atrial septal defect and partitioning of the common AV valve into 2 separate AV orifices, resulting in a so-called cleft in the mitral valve (left AV orifice).

• #47 Atrioventricular Canal Defect | Dayton Children’s Hospital

  https://www.childrensdayton.org/kidshealth/a/av-canal-defect

  A baby with a complete AV canal has an ASD, a VSD, and a large common valve between the atria and ventricles. […] A baby with a partial AV canal has an ASD and a common or abnormal valve between the atria and ventricles, but no VSD. […] The exact cause of AV canal isn’t known. It happens early in pregnancy while the fetus is first developing. There is no way to prevent it. […] AV canal is more common in babies with Down syndrome.

• #48 Atrioventricular septal defect | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/atrioventricular-septal-defect?lang=us

  Atrioventricular septal defects can be broadly classified as 10: partial, intermediate, complete. […] Partial atrioventricular septal defect is also referred to as isolated primum interatrial defect with the presence of two valve orifices between the lower edge of the atrial septum and the atrioventricular valve leaflets 10. […] Intermediate atrioventricular septal defect with two valve orifices includes the presence of interventricular defect alone or a combination of primum interatrial and interventricular defects 10. […] Atrioventricular septal defect can also exist without any atrial septal defect or ventricular communication referred to as atrioventricular septal defect with intact septal structures 10. […] Complete atrioventricular septal defect consists of an interventricular communication, a primum interatrial defect, and a common atrioventricular valve orifice 10. […] Certain other rare types of atrioventricular septal defects include 10: Gerbode defect- presence of individual right and left atrioventricular junctions and deficient atrioventricular septum.

• #49

  https://www.nicklauschildrens.org/Conditions/Atrioventricular-Canal-Defect-(AVC)

  Atrioventricual canal defects are birth defects that occur very early on in the development of a fetus. The exact reason they occur is not known. […] A complete atrioventricular canal defect is a birth defect in which the heart doesnt develop properly. Its characterized by a hole in the center of the heart that allows blood from all four chambers to mix and not flow through the heart properly.

• #50 When Your Child Has an Atrioventricular (AV) Canal Defect

  https://cerneribportal.staywellsolutionsonline.com/RelatedItems/3,89102

  An AV canal defect is a congenital heart defect. This means it is a problem with the hearts structure that your child was born with. The exact cause is unknown. Children with Down syndrome (trisomy 21) are at higher risk of having this heart defect. […] An atrioventricular (AV) canal defect is a large hole in the center of the heart. Its caused by the following problems with heart structure: Atrial septal defect (ASD). A hole in the dividing wall (atrial septum) that separates the atria in the heart. Ventricular septal defect (VSD). A hole in the dividing wall (ventricular septum) that separates the ventricles in the heart. A single atrioventricular (AV) valve. A single valve that develops in place of the separate tricuspid (right side) and mitral valves (left side). These valves control the flow of blood from the atria to the ventricles. […] When all of these heart problems are present, the AV canal defect is considered complete.

• #51 Atrioventricular septal defect | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/atrioventricular-septal-defect?lang=us

  Atrioventricular septal defect (AVSD) is defined as a group of anomalies with absent atrioventricular septal structures and a resultant common atrioventricular junction with a common atrioventricular valve and abnormal positioning of conduction axis 10. It comprises of a relatively wide range of defects involving the atrial septum, ventricular septum, and one or both of the tricuspid or mitral valve. It can represent 2-7% of congenital heart defects. […] The terms atrioventricular canal defect and endocardial cushion defect are no longer a part of the nomenclature, although they are still commonly used. […] It results from deficient development of the apical portion of the atrial septum, basal portion of the interventricular septum, as well as the atrioventricular valves. All four chambers of the heart communicate, therefore, both left-to-right and right-to-left shunts can occur.

• #52 Atrioventricular Canal Defect | Dayton Children’s Hospital

  https://www.childrensdayton.org/kidshealth/a/av-canal-defect

  A baby with a complete AV canal has an ASD, a VSD, and a large common valve between the atria and ventricles. […] A baby with a partial AV canal has an ASD and a common or abnormal valve between the atria and ventricles, but no VSD. […] The exact cause of AV canal isn’t known. It happens early in pregnancy while the fetus is first developing. There is no way to prevent it. […] AV canal is more common in babies with Down syndrome.

• #53 Atrioventricular septal defect | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/atrioventricular-septal-defect?lang=us

  Atrioventricular septal defects can be broadly classified as 10: partial, intermediate, complete. […] Partial atrioventricular septal defect is also referred to as isolated primum interatrial defect with the presence of two valve orifices between the lower edge of the atrial septum and the atrioventricular valve leaflets 10. […] Intermediate atrioventricular septal defect with two valve orifices includes the presence of interventricular defect alone or a combination of primum interatrial and interventricular defects 10. […] Atrioventricular septal defect can also exist without any atrial septal defect or ventricular communication referred to as atrioventricular septal defect with intact septal structures 10. […] Complete atrioventricular septal defect consists of an interventricular communication, a primum interatrial defect, and a common atrioventricular valve orifice 10. […] Certain other rare types of atrioventricular septal defects include 10: Gerbode defect- presence of individual right and left atrioventricular junctions and deficient atrioventricular septum.

• #54 Atrioventricular Septal Defect – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/atrioventricular-septal-defect

  If a complete AV septal defect is unrepaired, over time the increase in pulmonary blood flow, pulmonary artery pressure, and pulmonary vascular resistance may lead to reversal of shunt direction with cyanosis and Eisenmenger syndrome. […] A transitional atrioventricular septal defect, also called a transitional AV canal defect, consists of an ostium primum atrial septal defect, a restrictive inlet ventricular septal defect, which may be small or moderate in size, and a common AV valve, which may or may not be partitioned into a left and right orifice. […] The hemodynamics depend largely on the size of the VSD and whether there is significant AV valve regurgitation. […] A partial AV septal defect consists of an ostium primum atrial septal defect and partitioning of the common AV valve into 2 separate AV orifices, resulting in a so-called cleft in the mitral valve (left AV orifice).

• #55 Atrioventricular canal defect – Vejthani Hospital | JCI Accredited International Hospital in Bangkok, Thailand.

  https://www.vejthani.com/diseases-conditions/atrioventricular-canal-defect/

  Atrioventricular canal defect is a congenital heart disease that causes many issues in the center of the heart, including an unnatural hole in the wall between the hearts chambers. […] The cause of atrioventricular canal defect is unknown, but they usually come from an abnormal development of the heart that occurs while the infant is in the womb. It is commonly found in babies associated with Downs syndrome, a genetic condition caused by an extra chromosome (also called trisomy 21). […] Complete atrioventricular canal defect: This type of the disease that allow blood from the lung (oxygen-rich blood) to be mixed with the blood from the body (oxygen-poor blood) due to the presence of a big hole in the center of the heart. […] Partial atrioventricular canal defect: This type of disease involves a hole between the two upper chambers (atria), which also affects the valves (usually mitral valve).

• #56 Atrioventricular Canal Defect: What You Need to Know

  https://www.healthline.com/health/atrioventricular-canal-defect

  An atrioventricular canal is a congenital heart defect that connects chambers of your childs heart that shouldnt be connected. Atrioventricular canals usually require surgical treatment. […] It usually isnt known what causes an AV canal, but they occur in nearly half of people who also have Down syndrome. Theyre also associated with other genetic syndromes such as Ivemark syndrome and Smith-Lemli-Opitz syndrome. […] AV canal defects can be complete or partial. […] A complete AV canal is when a large hole forms in the middle of your heart and connects all four chambers. […] A partial AV canal occurs when a hole in the heart causes blood to flow through two chambers that are not normally connected. […] People with partial AV canals usually have fully formed valves in their heart, but one of their valves may not close properly.

• #57 Atrioventricular Septal Defect – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/atrioventricular-septal-defect

  If a complete AV septal defect is unrepaired, over time the increase in pulmonary blood flow, pulmonary artery pressure, and pulmonary vascular resistance may lead to reversal of shunt direction with cyanosis and Eisenmenger syndrome. […] A transitional atrioventricular septal defect, also called a transitional AV canal defect, consists of an ostium primum atrial septal defect, a restrictive inlet ventricular septal defect, which may be small or moderate in size, and a common AV valve, which may or may not be partitioned into a left and right orifice. […] The hemodynamics depend largely on the size of the VSD and whether there is significant AV valve regurgitation. […] A partial AV septal defect consists of an ostium primum atrial septal defect and partitioning of the common AV valve into 2 separate AV orifices, resulting in a so-called cleft in the mitral valve (left AV orifice).

• #58 Atrioventricular Septal Defect – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/atrioventricular-septal-defect

  If a complete AV septal defect is unrepaired, over time the increase in pulmonary blood flow, pulmonary artery pressure, and pulmonary vascular resistance may lead to reversal of shunt direction with cyanosis and Eisenmenger syndrome. […] A transitional atrioventricular septal defect, also called a transitional AV canal defect, consists of an ostium primum atrial septal defect, a restrictive inlet ventricular septal defect, which may be small or moderate in size, and a common AV valve, which may or may not be partitioned into a left and right orifice. […] The hemodynamics depend largely on the size of the VSD and whether there is significant AV valve regurgitation. […] A partial AV septal defect consists of an ostium primum atrial septal defect and partitioning of the common AV valve into 2 separate AV orifices, resulting in a so-called cleft in the mitral valve (left AV orifice).

• #59 Atrioventricular Septal Defect – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/atrioventricular-septal-defect

  If a complete AV septal defect is unrepaired, over time the increase in pulmonary blood flow, pulmonary artery pressure, and pulmonary vascular resistance may lead to reversal of shunt direction with cyanosis and Eisenmenger syndrome. […] A transitional atrioventricular septal defect, also called a transitional AV canal defect, consists of an ostium primum atrial septal defect, a restrictive inlet ventricular septal defect, which may be small or moderate in size, and a common AV valve, which may or may not be partitioned into a left and right orifice. […] The hemodynamics depend largely on the size of the VSD and whether there is significant AV valve regurgitation. […] A partial AV septal defect consists of an ostium primum atrial septal defect and partitioning of the common AV valve into 2 separate AV orifices, resulting in a so-called cleft in the mitral valve (left AV orifice).

• #60 Atrioventricular Canal Defect (AVCD) | surjen | Surjen care

  https://www.surjen.com/surgery-detail/atrioventricular-canal-defect-avc

  Down syndrome (Trisomy 21): Individuals with Down syndrome have an increased risk of AV canal defect, with approximately 40-50% of affected individuals exhibiting this cardiac anomaly. […] Mutations in specific genes involved in cardiac development and function may also contribute to the development of AV canal defects. […] In addition to genetic factors, environmental exposures during pregnancy may influence the risk of atrioventricular canal defects. […] Certain maternal health conditions, lifestyle factors, and exposures to toxins or medications have been implicated as potential environmental risk factors for AV canal defects. […] Factors that may enlarge a baby’s risk of developing atrioventricular canal defect prior to birth include: Down syndrome, Smoking when pregnant, German measles (rubella) or every other viral illness during a mother’s early pregnancy, Alcohol intake during pregnancy, Poorly controlled diabetes throughout pregnancy.

• #61 Atrioventricular Canal (AVC) Defect | Children’s Mercy Kansas City

  https://www.childrensmercy.org/departments-and-clinics/heart-center/understanding-atrioventricular-canal-defect/

  Children with Down syndrome or other chromosomal abnormalities frequently also have a significantly higher risk for congenital heart disease. About half the children born with Down syndrome have some kind of congenital heart disease, and close to half of those cases are atrioventricular canal defects.

• #62 Genetics of atrioventricular canal defects | Italian Journal of Pediatrics | Full Text

  https://ijponline.biomedcentral.com/articles/10.1186/s13052-020-00825-4

  In fact, clinical and molecular studies have demonstrated that several disease genes implicated in syndromes with AVCD encode proteins that participate in ciliary function. […] A link between AVCD and cilia abnormalities through a specific pathogenetic pathway involving Hedgehog signaling has been recognized in several syndromes with AVCD. […] The studies cited above indicate that isolated non-syndromic AVCD is a highly genetically heterogeneous malformation that probably requires an unknown combination of factors to break the theoretical disease threshold. […] Noteworthy, specific genes implicated in different steps of cardiogenesis can have a contributory role in different CHD. […] The molecular basis of familial AVCD are largely unknown. […] Some genes deeply implicated in cardiogenesis have been found in pedigrees with AVCD.

• #63 Atrioventricular Canal Defect: What You Need to Know

  https://www.healthline.com/health/atrioventricular-canal-defect

  Partial and complete AV canals usually require surgery. […] When treating complete AV canals, your childs surgeon will divide the valve in the middle of their heart into two valves. […] Its generally recommended for surgery to be performed as early in life as possible. […] The long-term outlook for an AV canal is often good with surgical treatment. […] At least 90% of children who receive treatment are still alive 10 years later. […] AV canals are usually treated with surgery.

• #64 Genetics of atrioventricular canal defects | Italian Journal of Pediatrics | Full Text

  https://ijponline.biomedcentral.com/articles/10.1186/s13052-020-00825-4

  In fact, clinical and molecular studies have demonstrated that several disease genes implicated in syndromes with AVCD encode proteins that participate in ciliary function. […] A link between AVCD and cilia abnormalities through a specific pathogenetic pathway involving Hedgehog signaling has been recognized in several syndromes with AVCD. […] The studies cited above indicate that isolated non-syndromic AVCD is a highly genetically heterogeneous malformation that probably requires an unknown combination of factors to break the theoretical disease threshold. […] Noteworthy, specific genes implicated in different steps of cardiogenesis can have a contributory role in different CHD. […] The molecular basis of familial AVCD are largely unknown. […] Some genes deeply implicated in cardiogenesis have been found in pedigrees with AVCD.

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