Materiały źródłowe

• #1 Atrioventricular Canal Defects – StatPearls – NCBI Bookshelf

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

  The incidence of AV canal defects obtained from several studies ranges from 0.24 to 0.31 per 1000 live births. It also comprises 3% to 5% of the total CHDs. There is no gender preponderance, although some studies state that there is a slight female predilection (1:1.3), especially in cases associated with Down syndrome. This may, in turn, be seen as gender as an effect modifier in the association of Down syndrome with CHDs. 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. […] Congenital heart diseases (CHD) are one of the most important causes of infant mortality. AV canal defects comprise 3% to 5% of congenital heart disease (CHD).

• #2 Atrioventricular Septal Defect – StatPearls – NCBI Bookshelf

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

  The incidence of an atrioventricular septal defect in the general population has been reported to be 0.24 to 0.31 per 1000 live births. It accounts for 3% of all congenital cardiac malformations. […] According to the Society of Thoracic Surgeons congenital database, 4138 cases of complete AVSD were diagnosed between 2013 and 2017. Most of these cases were repaired surgically with low mortality, with or without valvuloplasty (2.6% to 2.9%). […] 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.

• #3 Clinical manifestations and diagnosis of atrioventricular (AV) canal defects – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-atrioventricular-av-canal-defects

  AV canal defects account for approximately 4 to 5 percent of congenital heart defects, with a reported prevalence of 3 to 4 cases per 10,000 live births. The prevalence of AV canal defects among fetuses is considerably higher, and they account for approximately 15 to 20 percent of all congenital heart disease cases in fetuses. The lower birth prevalence is explained by fetal losses and pregnancy terminations. […] The male-to-female distribution of AV canal defect is approximately equal. […] Complete AV canal (CAVC) defects comprise approximately one-half of all cases, with partial and transitional defects accounting for the remaining half.

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

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

  About 1 in 1,712 (about 2,154) babies in the United States are born with an AVSD each year. […] 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. […] All infants with Down syndrome should have an echocardiogram to look for an AVSD or other heart defects. […] AVSD may be diagnosed during pregnancy or soon after the baby is born. […] Even if their AVSD is surgically repaired, a child or adult with an AVSD needs regular visits with a cardiologist to monitor his or her progress, avoid complications, and check for other health conditions that might develop as the child ages.

• #5 Clinical manifestations and diagnosis of atrioventricular (AV) canal defects – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-atrioventricular-av-canal-defects

  AV canal defects account for approximately 4 to 5 percent of congenital heart defects, with a reported prevalence of 3 to 4 cases per 10,000 live births. The prevalence of AV canal defects among fetuses is considerably higher, and they account for approximately 15 to 20 percent of all congenital heart disease cases in fetuses. The lower birth prevalence is explained by fetal losses and pregnancy terminations. […] The male-to-female distribution of AV canal defect is approximately equal. […] Complete AV canal (CAVC) defects comprise approximately one-half of all cases, with partial and transitional defects accounting for the remaining half.

• #6 Atrioventricular Canal Defect | Obgyn Key

  https://obgynkey.com/atrioventricular-canal-defect/

  Atrioventricular (AV) canal defect is the most common form of congenital heart disease detected prenatally and usually involves both a lower atrial and an upper ventricular septal defect, together with a common AV valve orifice. […] Complete AV canal defect accounts for 1% to 5% of all cases of congenital heart disease. It is the most common cardiac defect detected prenatally. In one series of 357 cases of congenital heart disease 13% were AV canal defects, almost 70% of which were of the complete type. […] Review of population-based series of congenital heart disease suggests that the incidence of AV canal defect is 0.3 per 1000 livebirths.

• #7 Atrioventricular Canal Defects – StatPearls – NCBI Bookshelf

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

  The incidence of AV canal defects obtained from several studies ranges from 0.24 to 0.31 per 1000 live births. It also comprises 3% to 5% of the total CHDs. There is no gender preponderance, although some studies state that there is a slight female predilection (1:1.3), especially in cases associated with Down syndrome. This may, in turn, be seen as gender as an effect modifier in the association of Down syndrome with CHDs. 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. […] Congenital heart diseases (CHD) are one of the most important causes of infant mortality. AV canal defects comprise 3% to 5% of congenital heart disease (CHD).

• #8 Complete atrioventricular canal | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-8

  CAVC accounts for about 3% of all cardiac malformations. Atrioventricular canal occurs in two out of every 10,000 live births. Both sexes are equally affected, with a slightly higher frequency in female (female/male ratio 1.3/1) and a striking association with Down syndrome was found […] Epidemiological studies showed that complete atrioventricular canal tends to be associated with chromosomal abnormalities, mainly Down syndrome.

• #9 Clinical manifestations and diagnosis of atrioventricular (AV) canal defects – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-atrioventricular-av-canal-defects

  AV canal defects account for approximately 4 to 5 percent of congenital heart defects, with a reported prevalence of 3 to 4 cases per 10,000 live births. The prevalence of AV canal defects among fetuses is considerably higher, and they account for approximately 15 to 20 percent of all congenital heart disease cases in fetuses. The lower birth prevalence is explained by fetal losses and pregnancy terminations. […] The male-to-female distribution of AV canal defect is approximately equal. […] Complete AV canal (CAVC) defects comprise approximately one-half of all cases, with partial and transitional defects accounting for the remaining half.

• #10 Atrioventricular Septal Defect – StatPearls – NCBI Bookshelf

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

  The incidence of an atrioventricular septal defect in the general population has been reported to be 0.24 to 0.31 per 1000 live births. It accounts for 3% of all congenital cardiac malformations. […] According to the Society of Thoracic Surgeons congenital database, 4138 cases of complete AVSD were diagnosed between 2013 and 2017. Most of these cases were repaired surgically with low mortality, with or without valvuloplasty (2.6% to 2.9%). […] 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.

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

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

  Atrioventricular canal defects occur in a small percentage of congenital heart disease cases and are more common in infants with Down syndrome. […] 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. […] Maternal age can have an effect on the prevalence of the defect.

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

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

  Atrioventricular canal defect occurs in two out of every 10,000 live births, and equally in boys and girls. […] 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: CHD is present in half of children born with Down syndrome, and 45 percent of these cases have AV canal defect. […] Similarly, one-third of all children born with atrioventricular canal defect also have Down syndrome. […] Fourteen percent of mothers with an AV canal defect give birth to a child with the disease. […] Some studies have investigated a possible link between the use of retinoic acid (a medication used for the treatment of dermatologic problems such as acne and facial wrinkles) while pregnant and the development of atrioventricular canal in the fetus. […] 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.

• #13

  https://omim.org/entry/606215

  The term 'atrioventricular septal defect’ (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). […] Population data on AVSD came from the Baltimore-Washington Infant Study (BWIS) which identified 336 children with AVSD among 4,385 infants with confirmed heart defects presenting under 1 year of age (7.7%) (Carmi et al., 1992). Of these 336 children, 76% were syndromic; of the syndromic cases, 78% were trisomy 21 (190685), or just under 60% of the total series. This represented 56% of the heart malformations associated with Down syndrome. […] A locus for AVSD on chromosome 21 was suggested by the high incidence of AVSD in cases of Down syndrome (190685).

• #14 Atrioventricular Canal Defects | Thoracic Key

  https://thoracickey.com/atrioventricular-canal-defects-2/

  Atrioventricular (AV) canal defects include a spectrum of lesions in which the common etiology appears to be abnormal development of the endocardial cushions, resulting in a defect in the AV septum and AV valves. This group of lesions forms approximately 3% of all major congenital cardiac defects, and approximately half of the patients have Down syndrome. In children with Down syndrome, AV canal defects are seen in 20% to 25%a 1000-fold increased risk when compared with the incidence in the general population. […] Approximately 50% to 75% of patients with complete AV canal have Down syndrome, whereas Down syndrome is rare in patients with partial AV canal defects, occurring in less than 10% of these patients. AV canal defects make up approximately 3% of all major congenital cardiac defects and are seen in approximately 25% to 30% of patients with Down syndrome. This represents a 1000-fold higher rate than in the general population. AV canal defects are the most common congenital heart anomaly in patients with Down syndrome.

• #15 Atrioventricular Canal Defects | Thoracic Key

  https://thoracickey.com/atrioventricular-canal-defects-2/

  Atrioventricular (AV) canal defects include a spectrum of lesions in which the common etiology appears to be abnormal development of the endocardial cushions, resulting in a defect in the AV septum and AV valves. This group of lesions forms approximately 3% of all major congenital cardiac defects, and approximately half of the patients have Down syndrome. In children with Down syndrome, AV canal defects are seen in 20% to 25%a 1000-fold increased risk when compared with the incidence in the general population. […] Approximately 50% to 75% of patients with complete AV canal have Down syndrome, whereas Down syndrome is rare in patients with partial AV canal defects, occurring in less than 10% of these patients. AV canal defects make up approximately 3% of all major congenital cardiac defects and are seen in approximately 25% to 30% of patients with Down syndrome. This represents a 1000-fold higher rate than in the general population. AV canal defects are the most common congenital heart anomaly in patients with Down syndrome.

• #16 Atrioventricular Canal Defects | Radiology Key

  https://radiologykey.com/atrioventricular-canal-defects/

  AVC occurs in approximately 34.8 per 100,000 live births but is more frequently present in fetal life. It is the ninth most common congenital heart lesion. […] There is a very strong association between AVC and Down syndrome. A child with Down syndrome is 1000 times more likely to have AVC than a child with normal chromosomes. […] Recently, DSCAM (Down syndrome cell adhesion molecule) has been proposed as a possible candidate gene for the development of AVC. Familial clusters with different modes of inheritance have also been reported. […] The identification of an AVC on fetal imaging is an indication for a detailed obstetrical ultrasound evaluation as well as karyotype testing.

• #17 Atrioventricular Canal Defects | Radiology Key

  https://radiologykey.com/atrioventricular-canal-defects/

  AVC occurs in approximately 34.8 per 100,000 live births but is more frequently present in fetal life. It is the ninth most common congenital heart lesion. […] There is a very strong association between AVC and Down syndrome. A child with Down syndrome is 1000 times more likely to have AVC than a child with normal chromosomes. […] Recently, DSCAM (Down syndrome cell adhesion molecule) has been proposed as a possible candidate gene for the development of AVC. Familial clusters with different modes of inheritance have also been reported. […] The identification of an AVC on fetal imaging is an indication for a detailed obstetrical ultrasound evaluation as well as karyotype testing.

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

  https://radiopaedia.org/articles/atrioventricular-septal-defect?embed_domain=hackmd.io%25252f%252540yipuafecsl2jsu8smr5njq%25252fbnjhjgjghjghjghfavicon.icoradiopaedia-icon-144.pngfavicon.icoradiopaedia-icon-144.png&lang=gb

  The estimated prevalence is at ~3-4 in 10,000 births. […] Down syndrome (trisomy 21): may be present in up to 50% of cases […] Edwards syndrome (trisomy 18): may be present in up to 25% of cases […] heterotaxy syndromes may be present in up to 10% of cases of asplenia (Ivemark) syndrome.

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

  https://radiopaedia.org/articles/atrioventricular-septal-defect?embed_domain=hackmd.io%25252f%252540yipuafecsl2jsu8smr5njq%25252fbnjhjgjghjghjghfavicon.icoradiopaedia-icon-144.pngfavicon.icoradiopaedia-icon-144.png&lang=gb

  The estimated prevalence is at ~3-4 in 10,000 births. […] Down syndrome (trisomy 21): may be present in up to 50% of cases […] Edwards syndrome (trisomy 18): may be present in up to 25% of cases […] heterotaxy syndromes may be present in up to 10% of cases of asplenia (Ivemark) syndrome.

• #20 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. […] 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). […] Moreover, AVCD is associated with heterotaxy in additional 15% of the cases. Isolated, non-syndromic AVCD accounts for a percentage of about 36%. […] It is notable that among non-syndromic cases, a percentage of about 3.5% show a familial pattern of recurrence. […] In different ethic population AVCD can show distinct prevalence also in the context of the same syndrome supporting the multiple genetic origin of this CHD. […] The majority of AVCD not related to trisomy 21 occur as sporadic cases and non-syndromic patients with visceroatrial situs solitus (without heterotaxy) account for about 25%.

• #21 Atrioventricular canal defect in patients with RASopathies | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2012145

  Congenital heart defects affect 60-85% of patients with RASopathies. […] Congenital heart defects within the spectrum of complete or partial (including cleft mitral valve) atrioventricular canal defect were diagnosed in 8/101 (8%) patients, including seven with a PTPN11 gene mutation, and one single subject with a RAF1 gene mutation. […] Among RASopathies, atrioventricular canal defect was observed to occur with higher prevalence among subjects with PTPN11 mutations, even though this association was not significant possibly because of low statistical power. […] Familial segregation of atrioventricular canal defect should be considered in the genetic counselling of families with RASopathies. […] In the present series, AVCD was diagnosed in 8% of the patients with a molecularly confirmed RASopathy.

• #22 Atrioventricular Septal Defects | IntechOpen

  https://www.intechopen.com/chapters/82479

  Atrioventricular septal defects (AVSD) are a group of malformations involving the atrioventricular (AV) septum and common AV junction. […] AVSDs account for around 45% of all CHDs, with 5.38 cases per 10,000 live births, an increase from prior reports. […] Around half of the patients with AVSD have Down syndrome. […] It is the most common fetal cardiac anomaly detected on prenatal screening. […] Patients who are ineligible for complete surgical repair initially undergo palliative pulmonary artery banding. […] Overall surgical outcomes for AVSDs are excellent. […] Left atrioventricular valve regurgitation is the most common reason for reoperation. […] Congenital heart disease (CHD) accounts for around 11.2% of live births both in the United States and globally. […] Most of these cases are isolated, although some may have pulmonary stenosis or atresia. […] There is an association with other anomalies like heterotaxy and Ellis-Van Creveld syndrome.

• #23 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. […] 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). […] Moreover, AVCD is associated with heterotaxy in additional 15% of the cases. Isolated, non-syndromic AVCD accounts for a percentage of about 36%. […] It is notable that among non-syndromic cases, a percentage of about 3.5% show a familial pattern of recurrence. […] In different ethic population AVCD can show distinct prevalence also in the context of the same syndrome supporting the multiple genetic origin of this CHD. […] The majority of AVCD not related to trisomy 21 occur as sporadic cases and non-syndromic patients with visceroatrial situs solitus (without heterotaxy) account for about 25%.

• #24 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. […] 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). […] Moreover, AVCD is associated with heterotaxy in additional 15% of the cases. Isolated, non-syndromic AVCD accounts for a percentage of about 36%. […] It is notable that among non-syndromic cases, a percentage of about 3.5% show a familial pattern of recurrence. […] In different ethic population AVCD can show distinct prevalence also in the context of the same syndrome supporting the multiple genetic origin of this CHD. […] The majority of AVCD not related to trisomy 21 occur as sporadic cases and non-syndromic patients with visceroatrial situs solitus (without heterotaxy) account for about 25%.

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

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

  The Baltimore Washington Infants Study revealed that among non-syndromic children showing CHDs, only 35% presented familial recurrence. […] Studies on several pedigrees showed that the recurrence risk for CHD among siblings of patients with AVCD was about 3.6%. […] Nevertheless, recent studies on large pedigrees highlight low concordance ratios in families and importance of sex and ethnical drive as risk factor for recurrence rates. […] The knowledge of genetic basis of AVCD can be useful for prenatal and postnatal clinical management of affected patients. […] Information about the prevalence and type of genetic syndromes possibly associated with AVCD can be useful for clinicians involved in prenatal controls and for targeted screening for extracardiac defects.

• #26 Descriptive Epidemiology of Nonsyndromic Complete Atrioventricular Canal Defects

  https://stacks.cdc.gov/view/cdc/33454

  Background Complete atrioventricular canal defects (CAVC) are a common heart defect, but few epidemiologic studies have evaluated nonsyndromic CAVC. […] To assess the relationship between risk for nonsyndromic CAVC in offspring and several sociodemographic and reproductive parental factors, including maternal diabetes and obesity, we conducted Poisson regression analyses, using data ascertained through the Texas Birth Defects Registry, a large, population-based birth defects registry. […] Significant associations were observed between nonsyndromic CAVC in offspring and maternal pregestational diabetes (adjusted prevalence ratio (aPR): 6.74, 95% confidence interval (CI): 3.67-12.37), gestational diabetes [aPR: 1.69, 95% CI: 1.03, 2.79], and obesity [aPR: 1.69, 95% CI: 1.24, 2.30]. […] Our findings add nonsyndromic CAVC to the growing list of birth defects that appear to be associated with maternal diabetes and obesity.

• #27 Descriptive Epidemiology of Nonsyndromic Complete Atrioventricular Canal Defects

  https://stacks.cdc.gov/view/cdc/33454

  Background Complete atrioventricular canal defects (CAVC) are a common heart defect, but few epidemiologic studies have evaluated nonsyndromic CAVC. […] To assess the relationship between risk for nonsyndromic CAVC in offspring and several sociodemographic and reproductive parental factors, including maternal diabetes and obesity, we conducted Poisson regression analyses, using data ascertained through the Texas Birth Defects Registry, a large, population-based birth defects registry. […] Significant associations were observed between nonsyndromic CAVC in offspring and maternal pregestational diabetes (adjusted prevalence ratio (aPR): 6.74, 95% confidence interval (CI): 3.67-12.37), gestational diabetes [aPR: 1.69, 95% CI: 1.03, 2.79], and obesity [aPR: 1.69, 95% CI: 1.24, 2.30]. […] Our findings add nonsyndromic CAVC to the growing list of birth defects that appear to be associated with maternal diabetes and obesity.

• #28 Descriptive Epidemiology of Nonsyndromic Complete Atrioventricular Canal Defects

  https://stacks.cdc.gov/view/cdc/33454

  Background Complete atrioventricular canal defects (CAVC) are a common heart defect, but few epidemiologic studies have evaluated nonsyndromic CAVC. […] To assess the relationship between risk for nonsyndromic CAVC in offspring and several sociodemographic and reproductive parental factors, including maternal diabetes and obesity, we conducted Poisson regression analyses, using data ascertained through the Texas Birth Defects Registry, a large, population-based birth defects registry. […] Significant associations were observed between nonsyndromic CAVC in offspring and maternal pregestational diabetes (adjusted prevalence ratio (aPR): 6.74, 95% confidence interval (CI): 3.67-12.37), gestational diabetes [aPR: 1.69, 95% CI: 1.03, 2.79], and obesity [aPR: 1.69, 95% CI: 1.24, 2.30]. […] Our findings add nonsyndromic CAVC to the growing list of birth defects that appear to be associated with maternal diabetes and obesity.

• #29 Atrioventricular Canal Defects – StatPearls – NCBI Bookshelf

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

  The incidence of AV canal defects obtained from several studies ranges from 0.24 to 0.31 per 1000 live births. It also comprises 3% to 5% of the total CHDs. There is no gender preponderance, although some studies state that there is a slight female predilection (1:1.3), especially in cases associated with Down syndrome. This may, in turn, be seen as gender as an effect modifier in the association of Down syndrome with CHDs. 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. […] Congenital heart diseases (CHD) are one of the most important causes of infant mortality. AV canal defects comprise 3% to 5% of congenital heart disease (CHD).

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

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

  Atrioventricular canal defect occurs in two out of every 10,000 live births, and equally in boys and girls. […] 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: CHD is present in half of children born with Down syndrome, and 45 percent of these cases have AV canal defect. […] Similarly, one-third of all children born with atrioventricular canal defect also have Down syndrome. […] Fourteen percent of mothers with an AV canal defect give birth to a child with the disease. […] Some studies have investigated a possible link between the use of retinoic acid (a medication used for the treatment of dermatologic problems such as acne and facial wrinkles) while pregnant and the development of atrioventricular canal in the fetus. […] 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.

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

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

  Atrioventricular canal defect occurs in two out of every 10,000 live births, and equally in boys and girls. […] 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: CHD is present in half of children born with Down syndrome, and 45 percent of these cases have AV canal defect. […] Similarly, one-third of all children born with atrioventricular canal defect also have Down syndrome. […] Fourteen percent of mothers with an AV canal defect give birth to a child with the disease. […] Some studies have investigated a possible link between the use of retinoic acid (a medication used for the treatment of dermatologic problems such as acne and facial wrinkles) while pregnant and the development of atrioventricular canal in the fetus. […] 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.

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

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

  The Baltimore Washington Infants Study revealed that among non-syndromic children showing CHDs, only 35% presented familial recurrence. […] Studies on several pedigrees showed that the recurrence risk for CHD among siblings of patients with AVCD was about 3.6%. […] Nevertheless, recent studies on large pedigrees highlight low concordance ratios in families and importance of sex and ethnical drive as risk factor for recurrence rates. […] The knowledge of genetic basis of AVCD can be useful for prenatal and postnatal clinical management of affected patients. […] Information about the prevalence and type of genetic syndromes possibly associated with AVCD can be useful for clinicians involved in prenatal controls and for targeted screening for extracardiac defects.

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

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

  Atrioventricular canal defect occurs in two out of every 10,000 live births, and equally in boys and girls. […] 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: CHD is present in half of children born with Down syndrome, and 45 percent of these cases have AV canal defect. […] Similarly, one-third of all children born with atrioventricular canal defect also have Down syndrome. […] Fourteen percent of mothers with an AV canal defect give birth to a child with the disease. […] Some studies have investigated a possible link between the use of retinoic acid (a medication used for the treatment of dermatologic problems such as acne and facial wrinkles) while pregnant and the development of atrioventricular canal in the fetus. […] 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.

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

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

  The Baltimore Washington Infants Study revealed that among non-syndromic children showing CHDs, only 35% presented familial recurrence. […] Studies on several pedigrees showed that the recurrence risk for CHD among siblings of patients with AVCD was about 3.6%. […] Nevertheless, recent studies on large pedigrees highlight low concordance ratios in families and importance of sex and ethnical drive as risk factor for recurrence rates. […] The knowledge of genetic basis of AVCD can be useful for prenatal and postnatal clinical management of affected patients. […] Information about the prevalence and type of genetic syndromes possibly associated with AVCD can be useful for clinicians involved in prenatal controls and for targeted screening for extracardiac defects.

• #35 Atrioventricular Septal Defects | IntechOpen

  https://www.intechopen.com/chapters/82479

  Atrioventricular septal defects (AVSD) are a group of malformations involving the atrioventricular (AV) septum and common AV junction. […] AVSDs account for around 45% of all CHDs, with 5.38 cases per 10,000 live births, an increase from prior reports. […] Around half of the patients with AVSD have Down syndrome. […] It is the most common fetal cardiac anomaly detected on prenatal screening. […] Patients who are ineligible for complete surgical repair initially undergo palliative pulmonary artery banding. […] Overall surgical outcomes for AVSDs are excellent. […] Left atrioventricular valve regurgitation is the most common reason for reoperation. […] Congenital heart disease (CHD) accounts for around 11.2% of live births both in the United States and globally. […] Most of these cases are isolated, although some may have pulmonary stenosis or atresia. […] There is an association with other anomalies like heterotaxy and Ellis-Van Creveld syndrome.

• #36 Atrioventricular Canal Defects | Texas Children’s

  https://www.texaschildrens.org/content/conditions/atrioventricular-canal-defects

  Atrioventricular canal defects are congenital heart defects, meaning they are present at birth. The condition is estimated to affect 1 out of every 2,000 to 5,000 babies. […] An atrioventricular canal defect may be detected during a routine prenatal ultrasound. Additional testing, including fetal echocardiography, is typically needed to confirm the diagnosis and learn more about the defect. […] If the defect is suspected or diagnosed during pregnancy, prompt referral to a fetal cardiac center is important for further evaluation and to ensure proper delivery and treatment planning. […] Surgery is required after birth to repair the atrioventricular canal defect. Surgery is typically recommended within the first year of life.

• #37 Orphanet: Complete atrioventricular septal defect

  https://www.orpha.net/en/disease/detail/1329

  Prevalence at birth of complete atrioventricular septal defect (CAVSD) is suggested to be 1/5,000 in Europe. Both sexes are equally affected. […] CAVSD can be detected with fetal echocardiography; the detection rate is approximately 67%. […] Lifelong follow-up every 2 to 3 years is recommended.

• #38 Atrioventricular Canal Defects | Radiology Key

  https://radiologykey.com/atrioventricular-canal-defects/

  AVC occurs in approximately 34.8 per 100,000 live births but is more frequently present in fetal life. It is the ninth most common congenital heart lesion. […] There is a very strong association between AVC and Down syndrome. A child with Down syndrome is 1000 times more likely to have AVC than a child with normal chromosomes. […] Recently, DSCAM (Down syndrome cell adhesion molecule) has been proposed as a possible candidate gene for the development of AVC. Familial clusters with different modes of inheritance have also been reported. […] The identification of an AVC on fetal imaging is an indication for a detailed obstetrical ultrasound evaluation as well as karyotype testing.

• #39 Atrioventricular Canal Defects | Radiology Key

  https://radiologykey.com/atrioventricular-canal-defects/

  AVC occurs in approximately 34.8 per 100,000 live births but is more frequently present in fetal life. It is the ninth most common congenital heart lesion. […] There is a very strong association between AVC and Down syndrome. A child with Down syndrome is 1000 times more likely to have AVC than a child with normal chromosomes. […] Recently, DSCAM (Down syndrome cell adhesion molecule) has been proposed as a possible candidate gene for the development of AVC. Familial clusters with different modes of inheritance have also been reported. […] The identification of an AVC on fetal imaging is an indication for a detailed obstetrical ultrasound evaluation as well as karyotype testing.

• #40 Atrioventricular Canal Defects | Texas Children’s

  https://www.texaschildrens.org/content/conditions/atrioventricular-canal-defects

  Atrioventricular canal defects are congenital heart defects, meaning they are present at birth. The condition is estimated to affect 1 out of every 2,000 to 5,000 babies. […] An atrioventricular canal defect may be detected during a routine prenatal ultrasound. Additional testing, including fetal echocardiography, is typically needed to confirm the diagnosis and learn more about the defect. […] If the defect is suspected or diagnosed during pregnancy, prompt referral to a fetal cardiac center is important for further evaluation and to ensure proper delivery and treatment planning. […] Surgery is required after birth to repair the atrioventricular canal defect. Surgery is typically recommended within the first year of life.

• #41 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. Also known as atrioventricular septal defects or endocardial cushion defects, they account for about 5 percent of all congenital heart disease, and are most common in infants with Down syndrome. […] 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. […] Atrioventricular canal defects may be diagnosed within the first 20 weeks of pregnancy, during a scheduled ultrasound. […] Often, atrioventricular canal defects are diagnosed shortly after birth or within the first month of birth.

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

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

  About 1 in 1,712 (about 2,154) babies in the United States are born with an AVSD each year. […] 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. […] All infants with Down syndrome should have an echocardiogram to look for an AVSD or other heart defects. […] AVSD may be diagnosed during pregnancy or soon after the baby is born. […] Even if their AVSD is surgically repaired, a child or adult with an AVSD needs regular visits with a cardiologist to monitor his or her progress, avoid complications, and check for other health conditions that might develop as the child ages.

• #43 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. […] Atrioventricular septal defects make up about 5% of all congenital heart disease. They are most common in infants with Down syndrome. […] Atrioventricular septal defects can occur with other types of congenital heart disease such as coarctation of the aorta or tetralogy of Fallot. […] There is a high chance of atrioventricular septal defects in infants with Down syndrome. All infants with Down syndrome should have an echocardiogram. This should happen even if there is not a heart murmur or if the child doesnt have any signs or symptoms. […] The recovery period after repair of a partial or transitional atrioventricular septal defect is usually short. Most patients are out of the intensive care unit (ICU) in one to two days. They are home in four to five days after surgery.

• #44 Complete Atrioventricular Canal (AV Canal) | Pediatric Echocardiography

  https://pedecho.org/library/chd/complete-balanced-av-canal

  A complete atrioventricular canal (CAVC) describes a constellation of defects which comprise abnormalities in the structures that are derived from the endocardial cushions. CAVC accounts for approximately ~3% of cardiac malformations. Both sexes are equally affected and there is a significant association with Down syndrome/Trisomy 21. Patients often become symptomatic in infancy due to congestive heart failure and failure to thrive. […] Pharmacologic therapy (digoxin, diuretics, vasodilators) play a role as a bridge toward surgery which is usually performed between the 3-6 months of life.

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

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

  Atrioventricular (AV) septal defect accounts for about 5% of congenital heart anomalies. […] The majority of patients with the complete form have Down syndrome. […] AV septal defect is also common among patients with heterotaxy syndromes. […] Complete atrioventricular septal defect should be repaired by age 2 to 4 months because most infants have heart failure and failure to thrive. […] 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. […] Defects are repaired surgically between age 2 to 4 months or 1 to 3 years, depending on the specific defect and severity of symptoms.

• #46 Atrioventricular Septal Defect – StatPearls – NCBI Bookshelf

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

  The incidence of an atrioventricular septal defect in the general population has been reported to be 0.24 to 0.31 per 1000 live births. It accounts for 3% of all congenital cardiac malformations. […] According to the Society of Thoracic Surgeons congenital database, 4138 cases of complete AVSD were diagnosed between 2013 and 2017. Most of these cases were repaired surgically with low mortality, with or without valvuloplasty (2.6% to 2.9%). […] 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.

• #47 Atrioventricular Canal (AVC) Defect

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

  About 1 in 1,700 babies are born with this defect each year in the U.S. It makes up between 3% and 5% of all congenital heart defects. […] 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. […] After surgery, many people don’t need medications or more operations for their heart. But cardiac arrhythmias may develop later in life. A provider may recommend minimally invasive procedures like ablation to treat an arrhythmia.

• #48 Atrioventricular Septal Defect – StatPearls – NCBI Bookshelf

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

  The incidence of an atrioventricular septal defect in the general population has been reported to be 0.24 to 0.31 per 1000 live births. It accounts for 3% of all congenital cardiac malformations. […] According to the Society of Thoracic Surgeons congenital database, 4138 cases of complete AVSD were diagnosed between 2013 and 2017. Most of these cases were repaired surgically with low mortality, with or without valvuloplasty (2.6% to 2.9%). […] 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.

• #49 Outcomes of atrioventricular septal defects with and without down syndrome: analysis of the national inpatient database | Cardiology in the Young | Cambridge Core

  https://www.cambridge.org/core/journals/cardiology-in-the-young/article/outcomes-of-atrioventricular-septal-defects-with-and-without-down-syndrome-analysis-of-the-national-inpatient-database/6608FA314CF9AD4CB0BD88720DC00719

  Controversial data exist about the impact of Down syndrome on outcomes after surgical repair of atrioventricular septal defect. […] The incidence of hospitalisation in infants with atrioventricular septal defect ranged from 4.5 to 7.5% of all infants hospitalised with CHD per year. […] Overall atrioventricular septal defect mortality was 6.3%. […] Trends in atrioventricular septal defect hospitalisation had been stable over time. […] Down syndrome was present in more than half of atrioventricular septal defect patients and was associated with a higher incidence of pulmonary hypertension but less arrhythmia, lower mortality, shorter hospital stay, and less resource utilisation.

• #50 Atrioventricular Canal (AVC) Defect

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

  About 1 in 1,700 babies are born with this defect each year in the U.S. It makes up between 3% and 5% of all congenital heart defects. […] 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. […] After surgery, many people don’t need medications or more operations for their heart. But cardiac arrhythmias may develop later in life. A provider may recommend minimally invasive procedures like ablation to treat an arrhythmia.

• #51 Atrioventricular Septal Defect | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/a/avsd

  Reported surgical survival is greater than 97% but is close to 100%. […] Most patients need two to four days in the intensive care unit after repair of a complete atrioventricular septal defect. They will stay in the hospital for five to seven days after surgery. Survival is 97% for this type of surgery.

• #52 Atrioventricular Canal (AVC) Defect

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

  About 1 in 1,700 babies are born with this defect each year in the U.S. It makes up between 3% and 5% of all congenital heart defects. […] 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. […] After surgery, many people don’t need medications or more operations for their heart. But cardiac arrhythmias may develop later in life. A provider may recommend minimally invasive procedures like ablation to treat an arrhythmia.

• #53 Outcomes of atrioventricular septal defects with and without down syndrome: analysis of the national inpatient database | Cardiology in the Young | Cambridge Core

  https://www.cambridge.org/core/journals/cardiology-in-the-young/article/outcomes-of-atrioventricular-septal-defects-with-and-without-down-syndrome-analysis-of-the-national-inpatient-database/6608FA314CF9AD4CB0BD88720DC00719

  Controversial data exist about the impact of Down syndrome on outcomes after surgical repair of atrioventricular septal defect. […] The incidence of hospitalisation in infants with atrioventricular septal defect ranged from 4.5 to 7.5% of all infants hospitalised with CHD per year. […] Overall atrioventricular septal defect mortality was 6.3%. […] Trends in atrioventricular septal defect hospitalisation had been stable over time. […] Down syndrome was present in more than half of atrioventricular septal defect patients and was associated with a higher incidence of pulmonary hypertension but less arrhythmia, lower mortality, shorter hospital stay, and less resource utilisation.

• #54 Atrioventricular Septal Defects (AVSD) – TeachMePaediatrics

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

  AVSDs account for up to 5% of all congenital heart defects. They have a strong association with Down Syndrome (Trisomy 21). About 40-45% of children with Down syndrome have congenital heart defects and among these approximately 45% have an AVSD. Familial occurrence of AVSD is rare. Gender distribution is approximately equal or may show a slight female predominance. Complete AVSDs also occur in patients with Heterotaxy Syndromes (an abnormal arrangement of internal thoracic-abdominal organs across the left-right axis of the body). […] The mortality rate for AVSD is about 2.5%. The mortality rates do not appear to be different in patients with Down syndrome compared with non-syndromic patients when repaired within the first year of life. Reoperation is required in 15-20% of patients with worsening mitral regurgitation being the leading reason for reoperation. […] Postoperatively, lifelong cardiac follow up is needed and should involve monitoring for residual defects, AV valve insufficiency, a subaortic stenosis, development of pulmonary hypertension and arrhythmias.

• #55 Atrioventricular Septal Defect – StatPearls – NCBI Bookshelf

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

  The incidence of an atrioventricular septal defect in the general population has been reported to be 0.24 to 0.31 per 1000 live births. It accounts for 3% of all congenital cardiac malformations. […] According to the Society of Thoracic Surgeons congenital database, 4138 cases of complete AVSD were diagnosed between 2013 and 2017. Most of these cases were repaired surgically with low mortality, with or without valvuloplasty (2.6% to 2.9%). […] 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.

• #56 Atrioventricular Canal Defects | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17972

  The incidence of AV canal defects obtained from several studies ranges from 0.24 to 0.31 per 1000 live births. It also comprises 3% to 5% of the total CHDs. There is no gender preponderance, although some studies state that there is a slight female predilection (1:1.3), especially in cases associated with Down syndrome. This may, in turn, be seen as gender as an effect modifier in the association of Down syndrome with CHDs. 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. […] The mortality rate of patients treated with atrioventricular canal defects is estimated to be 3%. 90% of treated patients have a 10-year survival rate. The reoperation rate is found to be 10% to 20%. The most common cause of reoperation, that occurs in 5-10% of patients is the worsening of mitral regurgitation.

• #57 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

  Approximately 2,700 children (~5/10,000 live births) are born annually with atrioventricular septal defect (AVSD). […] For all patients, long-term surveillance for residual lesions is required and reintervention may be required in as many as 10-25% with the most common indications for reintervention being residual left AV valve regurgitation and left ventricular outflow tract obstruction. […] To date, there are limited resources available to guide clinicians regarding frequency and timing of follow-up before and after repair, resulting in practice variation across providers and institutions. […] This guideline was designed as a reference tool to assist health care clinicians with standardizing care across institutions, reducing practice variation, and improving resource utilization.

• #58 Atrioventricular Septal Defects (AVSD) – TeachMePaediatrics

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

  AVSDs account for up to 5% of all congenital heart defects. They have a strong association with Down Syndrome (Trisomy 21). About 40-45% of children with Down syndrome have congenital heart defects and among these approximately 45% have an AVSD. Familial occurrence of AVSD is rare. Gender distribution is approximately equal or may show a slight female predominance. Complete AVSDs also occur in patients with Heterotaxy Syndromes (an abnormal arrangement of internal thoracic-abdominal organs across the left-right axis of the body). […] The mortality rate for AVSD is about 2.5%. The mortality rates do not appear to be different in patients with Down syndrome compared with non-syndromic patients when repaired within the first year of life. Reoperation is required in 15-20% of patients with worsening mitral regurgitation being the leading reason for reoperation. […] Postoperatively, lifelong cardiac follow up is needed and should involve monitoring for residual defects, AV valve insufficiency, a subaortic stenosis, development of pulmonary hypertension and arrhythmias.

• #59 Orphanet: Complete atrioventricular septal defect

  https://www.orpha.net/en/disease/detail/1329

  Prevalence at birth of complete atrioventricular septal defect (CAVSD) is suggested to be 1/5,000 in Europe. Both sexes are equally affected. […] CAVSD can be detected with fetal echocardiography; the detection rate is approximately 67%. […] Lifelong follow-up every 2 to 3 years is recommended.

• #60 Atrioventricular (AV) canal defect – Pediatric Cardiology | Northwell Health

  https://pediatrics.northwell.edu/departments-services/pediatric-cardiology/find-care/conditions/atrioventricular-canal-defect

  Atrioventricular septal defect (AVSD), also known as atrioventricular canal defect, refers to a large hole in the center of the heart that prevents the separation of all four heart chambers and requires surgical repair. […] Lifelong surveillance is required to assess the valve, the possible development of blockage in flow from the heart, and the development of heart rhythm (electrical) problems. […] How well the repaired valves perform must be monitored long term.

• #61 Atrioventricular (AV) canal defect – Pediatric Cardiology | Northwell Health

  https://pediatrics.northwell.edu/departments-services/pediatric-cardiology/find-care/conditions/atrioventricular-canal-defect

  Atrioventricular septal defect (AVSD), also known as atrioventricular canal defect, refers to a large hole in the center of the heart that prevents the separation of all four heart chambers and requires surgical repair. […] Lifelong surveillance is required to assess the valve, the possible development of blockage in flow from the heart, and the development of heart rhythm (electrical) problems. […] How well the repaired valves perform must be monitored long term.

• #62 Atrioventricular Septal Defects (AVSD) – TeachMePaediatrics

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

  AVSDs account for up to 5% of all congenital heart defects. They have a strong association with Down Syndrome (Trisomy 21). About 40-45% of children with Down syndrome have congenital heart defects and among these approximately 45% have an AVSD. Familial occurrence of AVSD is rare. Gender distribution is approximately equal or may show a slight female predominance. Complete AVSDs also occur in patients with Heterotaxy Syndromes (an abnormal arrangement of internal thoracic-abdominal organs across the left-right axis of the body). […] The mortality rate for AVSD is about 2.5%. The mortality rates do not appear to be different in patients with Down syndrome compared with non-syndromic patients when repaired within the first year of life. Reoperation is required in 15-20% of patients with worsening mitral regurgitation being the leading reason for reoperation. […] Postoperatively, lifelong cardiac follow up is needed and should involve monitoring for residual defects, AV valve insufficiency, a subaortic stenosis, development of pulmonary hypertension and arrhythmias.

• #63 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. They will need close follow-up care with a cardiology provider.

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

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

  About 1 in 1,712 (about 2,154) babies in the United States are born with an AVSD each year. […] 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. […] All infants with Down syndrome should have an echocardiogram to look for an AVSD or other heart defects. […] AVSD may be diagnosed during pregnancy or soon after the baby is born. […] Even if their AVSD is surgically repaired, a child or adult with an AVSD needs regular visits with a cardiologist to monitor his or her progress, avoid complications, and check for other health conditions that might develop as the child ages.

• #65 Atrioventricular Canal Defects | Radiology Key

  https://radiologykey.com/atrioventricular-canal-defects/

  AVC occurs in approximately 34.8 per 100,000 live births but is more frequently present in fetal life. It is the ninth most common congenital heart lesion. […] There is a very strong association between AVC and Down syndrome. A child with Down syndrome is 1000 times more likely to have AVC than a child with normal chromosomes. […] Recently, DSCAM (Down syndrome cell adhesion molecule) has been proposed as a possible candidate gene for the development of AVC. Familial clusters with different modes of inheritance have also been reported. […] The identification of an AVC on fetal imaging is an indication for a detailed obstetrical ultrasound evaluation as well as karyotype testing.

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

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

  The Baltimore Washington Infants Study revealed that among non-syndromic children showing CHDs, only 35% presented familial recurrence. […] Studies on several pedigrees showed that the recurrence risk for CHD among siblings of patients with AVCD was about 3.6%. […] Nevertheless, recent studies on large pedigrees highlight low concordance ratios in families and importance of sex and ethnical drive as risk factor for recurrence rates. […] The knowledge of genetic basis of AVCD can be useful for prenatal and postnatal clinical management of affected patients. […] Information about the prevalence and type of genetic syndromes possibly associated with AVCD can be useful for clinicians involved in prenatal controls and for targeted screening for extracardiac defects.

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

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

  The Baltimore Washington Infants Study revealed that among non-syndromic children showing CHDs, only 35% presented familial recurrence. […] Studies on several pedigrees showed that the recurrence risk for CHD among siblings of patients with AVCD was about 3.6%. […] Nevertheless, recent studies on large pedigrees highlight low concordance ratios in families and importance of sex and ethnical drive as risk factor for recurrence rates. […] The knowledge of genetic basis of AVCD can be useful for prenatal and postnatal clinical management of affected patients. […] Information about the prevalence and type of genetic syndromes possibly associated with AVCD can be useful for clinicians involved in prenatal controls and for targeted screening for extracardiac defects.

• #68 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

  Approximately 2,700 children (~5/10,000 live births) are born annually with atrioventricular septal defect (AVSD). […] For all patients, long-term surveillance for residual lesions is required and reintervention may be required in as many as 10-25% with the most common indications for reintervention being residual left AV valve regurgitation and left ventricular outflow tract obstruction. […] To date, there are limited resources available to guide clinicians regarding frequency and timing of follow-up before and after repair, resulting in practice variation across providers and institutions. […] This guideline was designed as a reference tool to assist health care clinicians with standardizing care across institutions, reducing practice variation, and improving resource utilization.

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

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

  The Baltimore Washington Infants Study revealed that among non-syndromic children showing CHDs, only 35% presented familial recurrence. […] Studies on several pedigrees showed that the recurrence risk for CHD among siblings of patients with AVCD was about 3.6%. […] Nevertheless, recent studies on large pedigrees highlight low concordance ratios in families and importance of sex and ethnical drive as risk factor for recurrence rates. […] The knowledge of genetic basis of AVCD can be useful for prenatal and postnatal clinical management of affected patients. […] Information about the prevalence and type of genetic syndromes possibly associated with AVCD can be useful for clinicians involved in prenatal controls and for targeted screening for extracardiac defects.

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