Genetic testing for atrioventricular septal defect

Open access


Atrioventricular septal defect (AVSD) is a congenital heart defect characterized by a shared atrioventricular junction coexisting with deficient atrioventricular septation. The main morphological characteristic of AVSD is a common atrioventricular canal. The prevalence of AVSD is estimated at 0.31/1000 live births and is higher among subjects with PTPN11 mutations. ASD may have autosomal dominant or autosomal recessive inheritance. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

1. Craig B. Atrioventricular septal defect: from fetus to adult. Heart 2006; 92(12): 1879-85.

2. Ferencz C, Boughman JA, Neill CA, Brenner JI, Perry LW. Congenital cardiovascular malformations: questions on inheritance. Baltimore-Washington Infant Study Group. J Am Coll Cardiol 1989; 14(3): 756-63.

3. Feldt RH, O’Connell EJ, Stickler GB, Weidman WH. Etiologic factors in congenital heart disease. Am J Dis Child 1968; 115(5): 552-556.

4. Disegni E, Pierpont ME, Bass JL, Kaplinsky E. Two-dimensional echocardiography in detection of endocardial cushion defect in families. Am J Cardiol 1985; 55(13 Pt 1): 1649-52.

5. Digilio MC, Marino B, Cicini MP, Giannotti A, Formigari R, et al. Risk of congenital heart defects in relatives of patients with atrioventricular canal. Am J Dis Child 1993; 147(12): 1295-97.

6. Digilio MC, Marino B, Giannotti A, Dallapiccola B. Familial atrioventricular septal defect: possible genetic mechanism. Br Heart J 1994; 72(3): 301.

7. Cousineau AJ, Lauer RM, Pierpont ME, Burns TL, Ardinger RH, Patil SR, Sheffield VC. Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21. Hum Genet 1994; 93(2): 103-08.

8. Berger TJ, Blackstone EH, Kirklin JW, Bargeron LM Jr, Hazelrig JB, Turner ME Jr. Survival and probability of cure without and with operation in complete atrioventricular canal. Ann Thorac Surg 1979; 27(2): 104-11.

9. Grech V. Epidemiology, and diagnostic and surgical trends in atrioventricular septal defect in Malta. Eur J Epidemiol 1999; 15(4): 403-405.

10. Digilio MC, Romana Lepri F, Dentici ML, Henderson A, Baban A, Roberti MC, Capolino R, Versacci P, Surace C, Angioni A, Tartaglia M, Marino B, Dallapiccola B. Atrioventricular canal defect in patients with RASopathies. Eur J Hum Genet 2013; 21(2): 200-04.

11. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD; Centers for Disease Control and Prevention (CDC). Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions. MMWR Recomm Rep. 2009; 58(RR-6): 1-37; quiz CE-1-4.

Journal Information


All Time Past Year Past 30 Days
Abstract Views 0 0 0
Full Text Views 44 44 10
PDF Downloads 25 25 3