Atrioventricular Septal Defect 3; AVSD3

What is Atrioventricular Septal Defect 3; AVSD3?

Atrioventricular Septal Defect 3; AVSD3 is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Non-syndromic atrioventricular canal defects (AVCDs) occur in approximately 1 in 1,000 births (Carmi et al., 1992). Families have been reported with incomplete autosomal dominant or recessive inheritance (Yao et al., 1968;O'Nuallain et al., 1977; Desgni et al., 1985; Cousineau et al., 1994; Wilson et al., 1993). The latter two papers presented evidence that the gene did not map to chromosome 21. Sheffield et al., (1997) showed evidence for a locus mapping to 1p21-1p31 in a large dominant family with incomplete penetrance for a gene apparently causing AVCDs although with a phenotype that could range from an AVCD to an isolated cleft mitral valve.
Digilio et al., (1999) reviewed 203 patients without Down syndrome and found that 65% had non-syndromic AVCD and 35% had a syndromic form. There were chromosome abnormalities in 3% including three 8p21-pter deletions. Reddy et al., (1999) reported a family segregating for a small 8p23.1 deletion. One individual had an ASD, a VSD, pulmonary stenosis, and another case had an ASD. Pehlivan et al., (1999) and Wu et al., (1999) report other cases of 8p23.1 deletions with congenital heart defects. The transcription factor GATA4 maps to this region (Pehlivan et al., 1999, Bhatia et al., 1999).
There is evidence form chromosome deletions for a locus for AVCDs at 3p25-p26 (Green et al., 2000). Robinson et al., (2003) analysed of the CRELD1 gene from individuals with non-trisomy 21-associated AVSD and identified heterozygous missense mutations in nearly 6%.including mutations in isolated AVSD and AVSD associated with heterotaxy syndrome. The gene for the cell adhesion molecule CRELD1 (previously known as "cirrin") maps to 3p25.

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* This information is courtesy of the L M D.

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What gene changes cause Atrioventricular Septal Defect 3; AVSD3?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 600309 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
GJA1 - 6q22.31

What are the main symptoms of Atrioventricular Septal Defect 3; AVSD3?

The typical symptoms of the syndrome are:
Pulmonary arterial hypertension, Inlet ventricular septal defect, First degree atrioventricular block, Autosomal dominant inheritance, Primum atrial septal defect, Cyanosis, Congestive heart failure

How does someone get tested for Atrioventricular Septal Defect 3; AVSD3?

The initial testing for Atrioventricular Septal Defect 3; AVSD3 can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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