Consanguinity and congenital heart disease in offspring

Main Article Content

Aris Fazeriandy
Muhammad Ali
Johannes H. Saing
Tina Christina L. Tobing
Rizky Adriansyah


Background Congenital heart disease (CHD) is a common congenital abnormality in children. Consanguineous marriage has been identified as a risk factor of  CHD. There was an autosomal recessive pattern of inheritance seen in children with some forms of congenital heart disease.

Objective To assess the possible association between consanguineous marriage and congenital heart disease incidence in the offspring.

Methods A case-control study was conducted from March to May 2016 on pediatric patients at H. Adam Malik General Hospital, Medan. Subjects were allocated into two groups, 100 children with CHD in the case group, and the rest in the control group. Data were analyzed using Chi-square and logistic regression tests. In the present study, P value less than 0.05 was considered statistically significant.

Results In the case group, 14 patients (14%) were born of consanguineous marriages. In the control group, only 5 patients (5%) were born of consanguineous marriages. There was a significant association between consanguineous marriage and CHD (OR 1.551; 95%CI 1.138 to 2.113). Based on the result of multivariate analysis, consanguineous marriage was a risk factor for CHD in offspring (Wald=4.525; P=0.033).

Conclusion  Consanguineous marriage is a risk factor for CHD in offspring.

Article Details

How to Cite
Fazeriandy A, Ali M, Saing J, Tobing T, Adriansyah R. Consanguinity and congenital heart disease in offspring. PI [Internet]. 30Apr.2018 [cited 23Apr.2021];58(2):75-. Available from:
Received 2016-11-02
Accepted 2018-04-16
Published 2018-04-30


1. Mitchell SC, Korones SB, Berendes HW. Congenital heart disease in 56,109 births. Incidence and natural history. Circulation. 1971;43:323–32.
2. Hariyanto D. Profil penyakit jantung bawaan di instalasi rawat inap anak RSUP dr. M. Djamil Padang Januari 2008-Februari 2011. Sari Pediatri. 2012;14:152-57.
3. Rahayuningsih SE. Genetic syndrome in congenital heart disease. In: Lubis M, Tobing TC, Nafianti S, Wijaya H, Jiero S, Gusmira YH, editors. Current pediatric management. Medan: USU Press; 2015. p. 64-80.
4. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002;39:1890-900.
5. Al-Ani ZR. Association of consanguinity with congenital heart diseases in Al-Ramadi meternity and children’s teaching hospital, western Iraq. JCEC. 2013;4:1-6.
6. Djer MM, Madiyono B. Tatalaksana penyakit jantung bawaan. Sari Pediatri. 2000;2:155-62.
7. Becker SM, Al Halees Z, Molina C, Peterson RM. Consanguinity and congenital heart disease in Saudi Arabia. Am J Med Genet. 2001;99:8-13.
8. Jaber L, Merlob P, Bu X, Rotter JI, Shohat M. Marked parenteral consanguinity as a cause for increased major malformations in an Israeli Arab community. Am J Med Genet. 1992;44:1-6.
9. Stoltenberg C, Magnus P, Lie RT, Daltveit AK, Irgens LM. Birth defects and parental consanguinity in norway. American Journal of Epidemiology.1997; 145:439-48.
10. Shieh JTC, Bittles AH, Hudgins L. Consanguinity and the risk congenital heart disease. Am J Med Genet A. 2012;158A:1236-41.
11. Bittles AH. Assessing the influence of consanguinity on congenital heart disease. Ann Pediatr Cardiol. 2011;4:111-6.
12. Nath A, Patil C, Naik VA. Prevalence of consanguineous marriages in a rural community and its effect on pregnancy outcome. Indian J Comm Med. 2004;29:41-3.
13. Scott DA, Lee B. Patterns of genetic transmission. In: Kliegman RM, Stanton BF, St Geme III JW, Schor NF, editors. Nelson textbook of pediatrics. 20th ed. Philadelphia: Elsevier; 2016. p. 593-603.
14. Haq FU, Jalil F, Hashmi S, Jumani MI, Imdad A, Jabeen M, et al. Risk factors predisposing to congenital heart defects. Ann Pediatr Cardiol. 2011;4:117-21.
15. Yunis K, Mumtaz G, Bitar F, Chamseddine F, Kassar M, Rashkidi J, et al. Consanguineous marriage and congenital heart defects: a case-control study in the neonatal period. Am J Med Genet A. 2006;140:1524-30.
16. Rahayuningsih SE. Familial congenital heart disease in Bandung, Indonesia. Paediatrica Indonesiana. 2013;53:173-6.
17. Sastroasmoro S, Madiyono B. Epidemiologi dan etiologi penyakit jantung bawaan. In: Sastroasmoro S, Madiyono B, editors. Buku ajar kardiologi anak. Jakarta: Binarupa Aksara; 1994. p. 165-72.
18. Liu F, Yang YN, Xie X, Li XM, Ma X, Fu ZY, et al. Prevalence of congenital heart disease in Xinjiang multi-ethnic region of China. PLoS One. 2015;10:e133961.
19. Fahed AC, Gelb BD, Seidman JG, Seidman CE. Genetics of congenital heart disease: the glass half empty. Circ Res. 2013;112:707-20.
20. Chehab G, Chedid P, Saliba Z, Bouvagnet P. Congenital cardiac disease and inbreeding: specific defects escape higher risk due to parental consanguinity. Cardiol Young. 2007;17:414-22.
21. Fung A, Manlhiot C, Naik S, Rosenberg H, Smythe J, Lougheed J, et al. Impact of prenatal risk factors on congenital heart disease in the current era. J Am Heart Assoc. 2013:2:e000064.
22. Settin A, Almarsafawy H, Alhussieny A, Dowaidar M. Dysmorphic features, consanguinity and cytogenic pattern of congenital heart diseases: a pilot study from Mansoura locality, Egypt. Int J Health Sci. 2008;2:101-11.
23. Ramegowda S, Ramachandra NB. Parental consanguinity increases congenital heart disease in South India. Ann Hum Biol. 2006;33:519-28.
24. Jaber LA, Halpern GJ. Definition, background, history, and legal, religious and biological aspects. In: Jaber LA, Halperns GJ, editors. Consanguinity its impact, consequence and management. Taibe: Bentham Science Publishers; . 2014. p. 3-30.
25. Bennett RL, Motulsky AG, Bittles A, Hudgins L, Uhrich S, Doyle DL, et al. Genetic counseling and screening of consanguineous couples and their offspring: recommendations of the National Society of Genetic Counselors. J Genetic Couns. 2002;11:97-119.
26. Hadisumartono S. Pengalaman penanganan kasus penyakit jantung bawaan pada bayi dan anak di daerah. In: Sastroasmoro S, Madiyono B, Putra ST, editors. Pengenalan dini dan tata laksana penyakit jantung bawaan pada neonatus. Jakarta: University of Indonesia Medical School; 1994. p. 157-67.
27. Granados-Riveron JT, Pope M, Bu’lock FA, Thornborough C, Eason J, Setchfield K, et al. Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations. Congenit Heart Dis. 2012;7:151-9.