Evaluation of consanguinity as a risk factor for congenital heart diseases


  • Deveshwar Dev Medical Officer, Rajasthan Government, Jaipur, Rajasthan
  • Rambabu Sharma Department of Pediatrics Cardiology, SPMCHI, Jaipur, Rajasthan
  • Meenakshi Sharma Department of Physiology, SMS Medical College, Jaipur, Rajasthan
  • Kamlesh Agrawal Department of Pediatrics, SPMCHI, Jaipur, Rajasthan
  • Manisha Garg Department of Pediatrics, SMS Hospital, Jaipur, Rajasthan




Congenital heart disease, Consanguinity, Echocardiography


Background: Congenital heart disease (CHD) is the most common malformation in children. It is an important cause of infant mortality, long term morbidity and disability. There are multiple risk factors associated with CHDs, but in most of them cause and effect relationship has not been established till recently. Consanguinity as a risk factor has been studied by some workers with a small number of subjects hence requires to be evaluated through a study with a significant size of cohort. The objective of the study was to find out the association between parental consanguinity and the risk of CHDs among their off springs.

Methods: This is a hospital based, comparative, cross sectional, observational study. 518 children with CHDs, confirmed by echocardiography were included as cases and 240 children without any obvious congenital anomaly matched for age and sex were taken as control. The following clinical observations were collected through questionnaires in a predesigned performa: maternal and paternal age at conception; parental consanguinity; maternal medical, gestational and obstetric history; and other birth defects.

Results: Children from case and control groups were comparable with respect to age and sex at the inclusion in the study. Out of the total 758 study participants, 41 patients (5.41%) had parents who had a consanguineous marriage. Of these, 34 patients (6.56%) were cases and 7 (2.92%) were controls (P value was highly significant).

Conclusions: Consanguinity in parental marriages confer an increased risk of CHDs in their off springs (p value <0.005).



Haq F, Jalil F, Hashmi S, Jumani MI, Imdad A, Jabeen M, et al. Risk factors predisposing to congenital heart defects. APC. 2011;4(2):117-21.

Chadha SL, Singh N, Shukla DK. Epidemiological study of congenital heart disease. Indian Journal of Pediatrics. 2001;68:507-10.

Saxena A. CHD in India: A status report. Indian J Pediatr. 2005;72:595-8.

Shieh. Consanguinity and the Risk of Congenital Heart Disease. Am J Med Genet A. 2012;158A(5):1236-41.

Badaruddoza, Afzal M, Akhtaruzzaman. Inbreeding and congenital heart diseases in a north Indian population. Clin Genet. 1994;45:288-91.

Bassili A, Mokhtar SA, Dabous NI, Zaher SR, Mokhtar MM, Zaki A. Risk factors for congenital heart diseases in Alexandria, Egypt. Eur J Epidemiol. 2000;16(9):805-14.

Becker SM, Al Halees Z, Molina C, Paterson RM. Consanguinity and congenital heart disease in Saudi Arabia. Am J Med Genet. 2001;99:8-13.

El-Hazmi MA, Warsy AS, Al-Swailem AM, Sulaimani R, Al-Meshari AA. Consanguinity among the Saudi Arabian population. J Med Genet. 1995;32:623-6.

Nabulsi MM, Tamim H, Sabbaqh M, Obeid MY, Yunis KA, Bitar FF. Parental consanguinity and congenital heart malformations in a developing country. Am J Med Genet A. 2003;116A(4):342-7.

Ramegowda S, Ramachandra NB. Parental consanguinity increases congenital heart diseases in South India. Ann Hum Biol. 2006;33:519-28.

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.

Chéhab G. Congenital heart disease, maternal age and parental consanguinity in children with Down's syndrome. J Med Liban. 2007;55(3):133-7.

El Mouzan MI, Al Salloum AA, Al Herbish AS, Qurachi MM, Al Omar AA. Consanguinity and major genetic disorders in Saudi children: a community-based cross-sectional study. Ann Saudi Med. 2008; 28:169-73.






Original Research Articles