atrioventricular septal defects
atrioventricular septal defect, AVSD
Atrioventricular septal defects (AVSD) are common cardiovascular malformations, occurring in 3.5/10,000 births.
Types
atrial septal defects
ventricular septal defects
Etiology
trisomy 21
autosomal dominant AVSD
- Locus AVSD1 (1p31-p21)
- Locus AVSD2 (3p25): CRELD1 coding for a cell adhesion molecule previously known as "cirrin" (#12632326#)
- Locus GJA2 (6q21-q23.2): GJA2 germline mutations (MIM.121014)
References
Maslen CL. Molecular genetics of atrioventricular septal defects. Curr Opin Cardiol. 2004 May;19(3):205-10. PMID: #15096951#
Ventricular septal defect
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