Risk factors predisposing to congenital heart defects

Faheem Ul Haq1, Fatima Jalil, Saman Hashmi

  • 1Department of Community Health Sciences, Aga Khan University, Karachi, Pakistan.

Insights

Parental consanguinity significantly increases the risk of congenital heart disease (CHD) in children. This genetic factor, alongside others like low birth weight, contributes to CHD development.

Area of Science:

  • Pediatric Cardiology
  • Medical Genetics
  • Public Health

Background:

  • Congenital heart disease (CHD) is a significant global health concern.
  • Multiple risk factors contribute to CHD etiology, with consanguinity being a potential significant factor.
  • Inbreeding studies suggest an autosomal recessive inheritance pattern for some congenital heart defects.

Purpose of the Study:

  • To investigate the association between parental consanguinity and congenital heart disease (CHD).
  • To identify other significant risk factors contributing to the development of CHD in pediatric patients.

Main Methods:

  • A case-control study was conducted involving 500 pediatric patients.
  • The study included 250 cases diagnosed with CHD and 250 controls without CHD.
  • Data was collected at a tertiary care hospital in Karachi, Pakistan.

Main Results:

  • Consanguinity was observed in 48.8% of CHD cases versus 28.9% of controls.
  • Multivariate analysis identified consanguinity as an independent risk factor for CHD (adjusted odds ratio 2.59).
  • Additional risk factors included low birth weight, maternal co-morbidities, family history of CHD, and being the firstborn child.

Conclusions:

  • Parental consanguinity is an independent risk factor for congenital heart disease (CHD).
  • Family history of CHD, maternal co-morbidities, firstborn status, and low birth weight are also significant risk factors.
  • Maternal age, medications during pregnancy, and child's gender did not show a significant association with increased CHD risk.
Abstract

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