Variants
Sign InSign Up

Atrioventricular septal defect 5

Your Results

Sign In

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). 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). For a discussion of genetic heterogeneity of atrioventricular septal defects, see AVSD1 (606215).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

120

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    614474

  • Orphanet
  • HPO
  • Medgen

    C3280939

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.