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atrioventricular septal defects

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Ventricular septal defect
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

- 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)

- chromosomal anomalies

  • trisomy 21

Associations

- heterotaxies

References

- Maslen CL. Molecular genetics of atrioventricular septal defects. Curr Opin Cardiol. 2004 May;19(3):205-10. PMID: 15096951

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