" /> Atrioventricular septal defect 4 - CISMeF





Preferred Label : Atrioventricular septal defect 4;

Symbol : AVSD4;

CISMeF acronym : AVSD4;

Type : Phenotype, molecular basis known;

Description : The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the GATA-binding protein-4 gene (GATA4, 600576.0007);

Prefixed ID : #614430;

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28/07/2025


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