Hostname: page-component-8448b6f56d-xtgtn Total loading time: 0 Render date: 2024-04-19T20:27:30.142Z Has data issue: false hasContentIssue false
  • English
  • Français

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

Published online by Cambridge University Press:  16 March 2016

Moshe Stavsky Open the ORCID record for Moshe Stavsky [Opens in a new window] ,
Renana Robinson ,
Maayan Yitshak Sade ,
Hanah Krymko ,
Eli Zalstein ,
Viktorya Ioffe ,
Victor Novack  and
Aviva Levitas
Moshe Stavsky
Affiliation:
Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel Soroka Clinical Research Center, Soroka University Medical Center, Beer-Sheva, Israel
Renana Robinson
Affiliation:
Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel
Maayan Yitshak Sade
Affiliation:
Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel Soroka Clinical Research Center, Soroka University Medical Center, Beer-Sheva, Israel
Hanah Krymko
Affiliation:
Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel Department of Pediatric Cardiology, Soroka University Medical Center, Beer-Sheva, Israel
Eli Zalstein
Affiliation:
Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel Department of Pediatric Cardiology, Soroka University Medical Center, Beer-Sheva, Israel
Viktorya Ioffe
Affiliation:
Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel Department of Pediatric Cardiology, Soroka University Medical Center, Beer-Sheva, Israel
Victor Novack
Affiliation:
Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel Soroka Clinical Research Center, Soroka University Medical Center, Beer-Sheva, Israel
Aviva Levitas*
Affiliation:
Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel
*
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: alevitas@bgu.ac.il
Get access Rights & Permissions [Opens in a new window]

Abstract

Background

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.

Objective

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.

Methods

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

Results

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.

Conclusion

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.

Keywords

Conotruncal defectstruncus arteriosustetralogy of Fallottransposition of the great arteriesconsanguinity
Type
Original Articles
Information
Cardiology in the Young , Volume 27 , Issue 1 , January 2017 , pp. 109 - 116
Check for updates
Copyright
© Cambridge University Press 2016 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1. Hoffman, JI, Kaplan, S. The incidence of congenital heart disease. J Am Coll Cardiol 2002; 39: 1890–1900.CrossRefGoogle ScholarPubMed
2. Oyen, N, Poulsen, G, Boyd, HA, et al. Recurrence of congenital heart defects in families. Circulation 2009; 120: 295–301.CrossRefGoogle ScholarPubMed
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: 1147–1157.CrossRefGoogle ScholarPubMed
4. Rowland, TW, Hubbell, JP, Nadas, AS. Congenital heart disease in infants of diabetic mothers. J Pediatr 1973; 83: 815–820.CrossRefGoogle ScholarPubMed
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: 2137–2145.Google Scholar
6. Olshan, AF, Schnitzer, PG, Baird, PA. Paternal age and the risk of congenital heart defects. Teratology 1994; 50: 80–84.CrossRefGoogle ScholarPubMed
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: 1543–1549.Google Scholar
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: 2241–2247.CrossRefGoogle ScholarPubMed
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: 936–943.Google Scholar
10. Adams, MM, Mulinare, J, Dooley, K. Risk factors for conotruncal cardiac defects in Atlanta. J Am Coll Cardiol 1989; 14: 432–442.Google Scholar
11. Johnson, MC, Hing, A, Wood, MK, et al. Chromosomal anomalies in congenital heart disease. Am J Med Genet 1997; 70: 292–298.3.0.CO;2-G>CrossRefGoogle ScholarPubMed
12. O’Malley, CD, Shaw, GM, Wasserman, CR, et al. Epidemiologic characteristics of conotruncal heart defects in California, 1987–1988. Teratology 1996; 53: 374–377.3.0.CO;2-#>CrossRefGoogle ScholarPubMed
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: 607–616.Google Scholar
14. Lary, JM, Paulozzi, LJ. Sex differences in the prevalence of human birth defects: a population-based study. Teratology 2001; 64: 237–251.CrossRefGoogle ScholarPubMed
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: 368–373.Google Scholar
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: 98–106.Google Scholar
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: 319–326.Google Scholar
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: 47–84.Google Scholar
19. Dolk, H, Loane, M, EUROCAT Steering Committee. Congenital heart defects in Europe prevalence and perinatal mortality, 2000 to 2005. Circulation 2011: 841–849.Google Scholar
20. Wu, MH, Chen, HC, Lu, CW, et al. Prevalence of congenital heart disease at live birth in Taiwan. J Pediatr 2010; 156: 782–785.CrossRefGoogle ScholarPubMed
21. Reller, MD, Stricklland, MJ, Richle-Colarusso, T, et al. Prevalence of congenital heart defect in metropolitan Atlanta, 1998–2005. J Pediatr 2008; 153: 803–813.Google Scholar
22. Paltiel A. Stillbirths 1997–2002 demographic and health characteristics, 2005. Israel central bureau of statistics. http://www.cbs.gov.il/publications/stillbirths02/pdf/h_print.pdf.Google Scholar
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 http://www.rikaz.org/en/publication/SE2/chapter_5_en.pdf.Google Scholar
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: 351–354.Google Scholar
25. Dolk, H, Loane, M, Game, E. The prevalence of congenital anomalies in Europe. Adv Exp Med Biol 2010; 686: 349–364.CrossRefGoogle ScholarPubMed
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: 87–94.Google Scholar
27. Øyen, N, Poulsen, G, Boyd, HA, et al. National time trends in congenital heart defects, Denmark, 1977-2005. Am Heart J 2009; 157: 467–473.e1.Google Scholar
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: 956–964.CrossRefGoogle ScholarPubMed
29. Jaber, L, Halpern, GJ, Shohat, M. The impact of consanguinity worldwide. Community Genet 1998; 1: 12–17.Google Scholar
30. Kulkarni, ML, Kurian, M. Consanguinity and its effect on fetal growth and development: a south Indian study. J Med Genet 1990; 27: 348–352.Google Scholar
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: 1–6.Google Scholar
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: 232–238.CrossRefGoogle ScholarPubMed
33. El-Shafei, A, Rao, PSS, Sandhu, AK. Congenital malformations and consanguinity. Aust NZ J Obstet Gynaecol 1986; 26: 168–172.Google Scholar
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: 335–342.Google Scholar
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.CrossRefGoogle ScholarPubMed
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: 312–315.Google ScholarPubMed
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: 222–235.Google Scholar
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: 45–48.Google Scholar
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: 595–598.Google Scholar
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: 520–524.Google Scholar
41. Cuneo, BF. 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Curr Opin Pediatr 2001; 13: 465–472.Google Scholar
42. Driscoll, DA. Prenatal diagnosis of the 22q11.2 deletion syndrome. Genet Med 2001; 3: 14–18.CrossRefGoogle ScholarPubMed
43. Nora, JJ. From generational studies to a multilevel genetic-environmental interaction. J Am Coll Cardiol 1994; 23: 1468–1471.Google Scholar
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: 2444–2452.Google Scholar