Skip to main content Accessibility help

Elevated birth prevalence of conotruncal heart defects in a population with high consanguinity rate

  • Moshe Stavsky (a1) (a2), Renana Robinson (a1), Maayan Yitshak Sade (a1) (a2), Hanah Krymko (a1) (a3), Eli Zalstein (a1) (a3), Viktorya Ioffe (a1) (a3), Victor Novack (a1) (a2) and Aviva Levitas (a1)...



The aetiology of conotruncal heart defects is poorly understood and the birth prevalence varies geographically. The known risk factors for developing conotruncal heart defects are as follows: CHD in siblings, genetic chromosomal abnormalities, paternal age >30 years, high parity, low birth weight, prematurity, and maternal diabetes.


The aim of this study was to characterise conotruncal heart defects, birth prevalence, mortality, and morbidity in the population of southern Israel, of whom 75% are Jewish and the rest are mostly Bedouin Arabs.


The data were obtained from Soroka University Medical Center database of births and newborns. Conotruncal heart defects cases were identified by ICD9 codes.


During 1991–2011, there were 247,290 singleton live births and 393 conotruncal heart defects in Soroka University Medical Center. The birth prevalence per 10,000 live births of tetralogy of Fallot, transposition of the great arteries, and truncus arteriosus was 9.5, 5, and 1.8, respectively. In the multivariate analysis, Bedouin descent (adjusted odds ratio 2.40, p<0.001), maternal age >35 years (1.66, p=0.004), and siblings with congenital heart defects (1.98, p=0.005) were associated with tetralogy of Fallot, and Bedouin descent (1.61, p=0.05), siblings with congenital heart defects (2.19, p=0.004), and diabetes mellitus (7.15, p<0.001) were associated with transposition of the great arteries. In a univariate analysis, Bedouin descent (p=0.004) and congenital heart defects in siblings (p<0.001) were associated with truncus arteriosus.


We observed higher birth prevalence of conotruncal heart defects compared with the birth prevalence reported worldwide, specifically among the Bedouins, a population characterised with high consanguinity rate. Therefore, genetic counselling and early fetal echocardiograms should be encouraged, especially in high consanguinity rate populations. Naturally, further educational efforts are needed in order to decrease consanguinity and its related consequences.


Corresponding author

Correspondence to: Dr A. Levitas, MD, Department of Pediatric Cardiology, Soroka University Medical Center, Rager Boulevard, PO Box 151, Beer-Sheva 85025, Israel. Tel: +9 728 640 0624; Fax: +9 728 624 4343; E-mail:


Hide All
1. Hoffman, JI, Kaplan, S. The incidence of congenital heart disease. J Am Coll Cardiol 2002; 39: 18901900.
2. Oyen, N, Poulsen, G, Boyd, HA, et al. Recurrence of congenital heart defects in families. Circulation 2009; 120: 295301.
3. Hartman, RJ, Rasmussen, SA, Botto, LD, et al. The contribution of chromosomal abnormalities to congenital heart defects: a population-based study. Pediatr Cardiol 2011; 32: 11471157.
4. Rowland, TW, Hubbell, JP, Nadas, AS. Congenital heart disease in infants of diabetic mothers. J Pediatr 1973; 83: 815820.
5. Miller, A, Riehle-Colarusso, T, Siffel, C, et al. Maternal age and prevalence of isolated congenital heart defects in an urban area of the United States. Am J Med Genet Part A 2011; 155: 21372145.
6. Olshan, AF, Schnitzer, PG, Baird, PA. Paternal age and the risk of congenital heart defects. Teratology 1994; 50: 8084.
7. Mills, JL, Troendle, J, Conley, MR, et al. Maternal obesity and congenital heart defects: a population-based study. Am J Clin Nutr 2010; 91: 15431549.
8. van der Linde, D, Konings, EM, Slager, MA, et al. Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. J Am Coll Cardiol 2011; 58: 22412247.
9. Restivo, A, Piacentini, G, Placidi, S, et al. Cardiac outflow tract: a review of some embryogenetic aspects of the conotruncal region of the heart. Anat Rec A Discov Mol Cell Evol Biol 2006; 288: 936943.
10. Adams, MM, Mulinare, J, Dooley, K. Risk factors for conotruncal cardiac defects in Atlanta. J Am Coll Cardiol 1989; 14: 432442.
11. Johnson, MC, Hing, A, Wood, MK, et al. Chromosomal anomalies in congenital heart disease. Am J Med Genet 1997; 70: 292298.
12. O’Malley, CD, Shaw, GM, Wasserman, CR, et al. Epidemiologic characteristics of conotruncal heart defects in California, 1987–1988. Teratology 1996; 53: 374377.
13. Francannet, C, Lancaster, PA, Pradat, P, et al. The epidemiology of three serious cardiac defects. A joint study between five centres. Eur J Epidemiol 1993; 9: 607616.
14. Lary, JM, Paulozzi, LJ. Sex differences in the prevalence of human birth defects: a population-based study. Teratology 2001; 64: 237251.
15. Grech, V. Diagnostic and interventional trends in tetralogy of Fallot and trans-position of the great arteries in a population-based study. Pediatr Cardiol 2000; 21: 368373.
16. Loffredo, CA, Wilson, PD, Ferencz, C. Maternal diabetes: an independent risk factor for major cardiovascular malformations with increased mortality of affected infants. Teratology 2001; 64: 98106.
17. Ferencz, C, Rubin, JD, McCarter, RJ, et al. Maternal diabetes and cardiovascular malformations: predominance of double outlet right ventricle and truncus arteriosus. Teratology 1990; 141: 319326.
18. Sayasathid, J, Sukonpan, K, Somboonna, N. Epidemiology and etiology of congenital heart diseases. In: Syamasundar Rao P, ed. Congenital Heart Disease – Selected Aspects. InTech, Rijeka, Croatia, 2012: 4784.
19. Dolk, H, Loane, M, EUROCAT Steering Committee. Congenital heart defects in Europe prevalence and perinatal mortality, 2000 to 2005. Circulation 2011: 841–849.
20. Wu, MH, Chen, HC, Lu, CW, et al. Prevalence of congenital heart disease at live birth in Taiwan. J Pediatr 2010; 156: 782785.
21. Reller, MD, Stricklland, MJ, Richle-Colarusso, T, et al. Prevalence of congenital heart defect in metropolitan Atlanta, 1998–2005. J Pediatr 2008; 153: 803813.
22. Paltiel A. Stillbirths 1997–2002 demographic and health characteristics, 2005. Israel central bureau of statistics.
23. Nabih, B, Ahmad Sheikh, M, Aid, R, et al. The Galilee Society and Al Ahali, The Palestinians in Israel socio-economic, survey 2007. Retrieved December 2008 from
24. Jaber, L, Merlob, P, Shohat, M. High incidence of central nervous system malformations associated with marked parental consanguinity in an Israeli Arab community. Biomed Pharmacother 1994; 48: 351354.
25. Dolk, H, Loane, M, Game, E. The prevalence of congenital anomalies in Europe. Adv Exp Med Biol 2010; 686: 349364.
26. Bjornard, K, Riehle-Colarusso, T, Gilboa, SM, et al. Patterns in the prevalence of congenital heart defects, metropolitan Atlanta, 1978 to 2005. Birth Defects Res A Clin Mol Teratol 2013; 97: 8794.
27. Øyen, N, Poulsen, G, Boyd, HA, et al. National time trends in congenital heart defects, Denmark, 1977-2005. Am Heart J 2009; 157: 467473.e1.
28. Leirgul, E, Fomina, T, Brodwall, K, et al. Birth prevalence of congenital heart defects in Norway 1994-2009 – a nationwide study. Am Heart J 2014; 168: 956964.
29. Jaber, L, Halpern, GJ, Shohat, M. The impact of consanguinity worldwide. Community Genet 1998; 1: 1217.
30. Kulkarni, ML, Kurian, M. Consanguinity and its effect on fetal growth and development: a south Indian study. J Med Genet 1990; 27: 348352.
31. Jaber, L, Merlob, P, Bu, X, Rotter, JI, Shohat, M. Marked parental consanguinity as a cause for increased major malformations in an Israeli Arab community. Am J Med Genet 1992; 44: 16.
32. Grjibovski, AM, Magnus, P, Stoltenberg, C. Decrease in consanguinity among parents of children born in Norway to women of Pakistani origin: a registry-based study. Scand J Public Health 2009; 37: 232238.
33. El-Shafei, A, Rao, PSS, Sandhu, AK. Congenital malformations and consanguinity. Aust NZ J Obstet Gynaecol 1986; 26: 168172.
34. Magnus, P, Berg, K, Bjerkedal, T. Association of parental consanguinity with decreased birth weight and increased rate of early death and congenital malformations. Clin Genet 1985; 28: 335342.
35. Fung, A, Manlhiot, C, Naik, S, et al. Impact of prenatal risk factors on congenital heart disease in the current era. J Am Heart Assoc 2013; 2: e000064.
36. Zhang, L, Zhang, XH, Ren, MH, et al. Chromosome abnormalities and congenital heart diseases: a retrospective on 49 cases. Sichuan Da Xue Xue Bao Yi Xue Ban 2010; 41: 312315.
37. Harris, JA, Francannet, C, Pradat, P, et al. The epidemiology of cardiovascular defects, part 2: a study based on data from three large registries of congenital malformations. Pediatr Cardiol 2003; 24: 222235.
38. Garne, E, Nielsen, G, Hansen, OK, et al. Tetralogy of Fallot. A population-based study of epidemiology, associated malformations and survival in western Denmark 1984-1992. Scand Cardiovasc J 1999; 33: 4548.
39. Beauchesne, LM, Warnes, CA, Connolly, HM, et al. Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies. J Am Coll Cardiol 2005; 45: 595598.
40. Boudjemline, Y, Fermont, L, Le Bidois, J, et al. Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: a 6-year prospective study. J Pediatr 2001; 138: 520524.
41. Cuneo, BF. 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Curr Opin Pediatr 2001; 13: 465472.
42. Driscoll, DA. Prenatal diagnosis of the 22q11.2 deletion syndrome. Genet Med 2001; 3: 1418.
43. Nora, JJ. From generational studies to a multilevel genetic-environmental interaction. J Am Coll Cardiol 1994; 23: 14681471.
44. Csáky-Szunyogh, M, Vereczkey, A, Kósa, Z, et al. Risk and protective factors in the origin of conotruncal defects of heart – a population-based case–control study. Am J Med Genet A 2013; 161A: 24442452.


Related content

Powered by UNSILO

Elevated birth prevalence of conotruncal heart defects in a population with high consanguinity rate

  • Moshe Stavsky (a1) (a2), Renana Robinson (a1), Maayan Yitshak Sade (a1) (a2), Hanah Krymko (a1) (a3), Eli Zalstein (a1) (a3), Viktorya Ioffe (a1) (a3), Victor Novack (a1) (a2) and Aviva Levitas (a1)...


Altmetric attention score

Full text views

Total number of HTML views: 0
Total number of PDF views: 0 *
Loading metrics...

Abstract views

Total abstract views: 0 *
Loading metrics...

* Views captured on Cambridge Core between <date>. This data will be updated every 24 hours.

Usage data cannot currently be displayed.