Genetic testing for ventricular septal defect

Open access

Abstract

Ventricular septal defects (VSDs) are the commonest heart malformations and may affect the membranous or the muscular septum. Clinical presentation depends on the amount of interventricular flow, which is determined by the size of the defect and the relative resistances of the pulmonary and systemic vascular beds. The prevalence of VSD is estimated at about 5% among infants. Many small malformations present at birth may later undergo spontaneous closure. VSD may have autosomal dominant or autosomal recessive inheritance and may exist as isolated forms or as part of a syndrome. This Utility Gene Test was developed 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. Spicer DE, Hsu HH, Co-Vu J, Anderson RH, Fricker FJ. Ventricular septal defect. Orphanet J Rare Dis 2014; 9:144.

2. Soto B, Becker AE, Moulaert AJ, Lie JT, Anderson RH. Classification of ventricular septal defects. Br Heart J 1980; 43:332–343.

3. Minette MS, Sahn DJ. Ventricular septal defects. Circulation 2016; 114(20): 2190-97. Erratum in: Circulation 2007; 115:e205.

4. Penny DJ, Vick GW 3rd. Ventricular septal defect. Lancet 2011; 377: 1103–12.

5. Dakkak W, Bhimji SS. Ventricular Septal Defect. StatPearls (Internet) 2017, StatPearls Publishing, Treasure Island, Forida, United States. Available from http://www.ncbi.nlm.nih.gov/books/NBK470330/

6. Du ZD, Roguin N, Barak M, Bihari SG, Ben-Elisha M. High prevalence of muscular ventricular septal defect in preterm neonates. Am J Cardiol 1996; 78: 1183-85.

7. Corno A (2003). Atrioventricular septal defect. Congenital Heart Defects. Springer-Verlag Berlin Heidelberg 2003; 25–32.

8. Hoffman JI. Congenital heart disease: incidence and inheritance. Pediatr Clin North Am 1990; 37(1): 25-43.

9. Janvier A, Okah F, Farlow B, Lantos JD. An infant with trisomy 18 and a ventricular septal defect. Pediatrics 2011; 127(4):754-59.

10. Hazan F, Aykut A, Unalp A, Mese T, Unal N, Onay H, Ozkinay F. Ventricular septal defect in Crouzon Syndrome: case report. Genet Couns 2012; 23(4):519-522.

11. Postma AV, van Engelen K, van de Meerakker J, Rahman T, Probst S, Baars MJ, Bauer U, Pickardt T, Sperling SR, Berger F, Moorman AF, Mulder BJ, Thierfelder L, Keavney B, Goodship J, Klaassen S. Mutations in the sarcomere gene MYH7 in Ebstein anomaly. Circ Cardiovasc Genet 2011; 4(1): 43-50.

12. Bettinelli AL, Mulder TJ, Funke BH, Lafferty KA, Longo SA, Niyazov DM. Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation. Am J Med Genet A 2013; 161A(12):3187-90.

13. Wang J, Xie X, Zhou S, Huang G, Ma X, Suo P, Zhou S, Wang B, Ma X. The study of copy number variations in the regions of NOTCH1 among Chinese VSD and TOF patients. Int J Cardiol 2011; 147(3): 444-46.

14. Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet 2009; 18(5):861-71.

15. Czeizel A. Familial situs inversus and congenital heart defects. Am J Med Genet 1987; 28(1):227-28.

16. Deng X, Pan H, Wang J, Wang B, Cheng Z, Cheng L, Zhao L, Li H, Ma X. Functional Analysis of Two Novel Mutations in TWIST1 Protein Motifs Found in Ventricular Septal Defect Patients. Pediatr Cardiol 2015; 36(8):1602-09.

17. Zhu X, Deng X, Huang G, Wang J, Yang J, Chen S, Ma X, Wang B. A novel mutation of Hyaluronan synthase 2 gene in Chinese children with ventricular septal defect. PLoS One 2014; 9(2): e87437.

18. Wang J, Mao JH, Ding KK, Xu WJ, Liu XY, Qiu XB, Li RG, Qu XK, Xu YJ, Huang RT, Xue S, Yang YQ. A novel NKX2.6 mutation associated with congenital ventricular septal defect. Pediatr Cardiol 2015; 36(3): 646-656.

19. Zheng GF, Wei D, Zhao H, Zhou N, Yang YQ, Liu XY. A novel GATA6 mutation associated with congenital ventricular septal defect. Int J Mol Med 2012; 29:1065-1071.

20. Xuan C, Jia KG, Wang BB, Bai XY, Gao G, Yang Q, Wang XL, Liu XC, Ma X, He GW. Identification of two novel mutations of the HOMEZ gene in Chinese patients with isolated ventricular septal defect. Genet Test Mol Biomarkers 2013; 17(5): 390-94.

21. Cheng Z, Lib L, Li Z, Liu M, Yan J, et al. (2012) Two novel HAND1 mutations in Chinese patients with ventricular septal defect. Clin Chim Acta 413:675-677.

22. Wang B, Yan J, Mi R, Zhou S, Xie X, Wang J, Ma X. Forkhead box H1 (FOXH1) sequence variants in ventricular septal defect. Int J Cardiol 2010; 145(1): 83-85.

23. Pang S, Liu Y, Zhao Z, Huang W, Chen D, Yan B. Novel and functional sequence variants within the TBX2 gene promoter in ventricular septal defects. Biochimie 2013; 95(9):1807-1809.

24. Sun YM, Wang J, Qiu XB, Yuan F, Li RG, et al. (2016) A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis. G3 (Bethesda) 2016; 6:987-92.

25. Yang SW, Hitz MP, Andelfinger G. Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier. Cardiol Young 2010; 20(5):574-76.

26. Wang B, Li L, Xie X, Wang J, Yan J, Mu Y, Ma X. Genetic variation of SAL-Like 4 (SALL4) in ventricular septal defect. Int J Cardiol 2010; 145(2): 224-26.

27. Wang B, Yan J, Peng Z, Wang J, Liu S, et al. (2011). Teratocarcinoma-derived growth factor 1 (TDGF1) sequence variants in patients with congenital heart defect. Int J Cardiol 2011; 146(2): 225-27.

28. Xiao J, Kang G, Wang J, Li T, Chen J, Wang J, Li W, Wang B. A novel variation of GDF3 in Chinese Han children with a broad phenotypic spectrum of non-syndromic CHDs. Cardiol Young 2015; 25(7):1263-67.

29. Lee CL, Hsieh KS, Chen YL, Shiue YL. Identification of candidate genes for congenital ventricular septal defects with HSA22q11 loss of heterozygosity. Rev Esp Cardiol 2009; 62:263-272.

30. Shen MM. Nodal signaling: developmental roles and regulation. Development 2007; 134(6): 1023-34.

31. Su D, Li Q, Guan L, Gao X, Zhang H, Dandan E, Zhang L, Ma X. Down-regulation of EBAF in the heart with ventricular septal defects and its regulation by histone acetyltransferase p300 and transcription factors smad2 and cited2. Biochim Biophys Acta 2013; 1832(12): 2145-2152.

32. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. Seattle (WA): University of Washington, Seattle; GeneReviews 1993-2018; Available from: http://www.ncbi.nlm.nih.gov/pubmed/20301295.

33. 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

Metrics

All Time Past Year Past 30 Days
Abstract Views 0 0 0
Full Text Views 68 68 7
PDF Downloads 22 22 4