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Updated: May 28, 2026

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
Published on: March 10, 2020
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.
Introduction:
Congenital heart disease (CHD) is associated with multiple risk factors, consanguinity may be one such significant factor. The role of consanguinity in the etiology of CHD is supported by inbreeding studies, which demonstrate an autosomal recessive pattern of inheritance of some congenital heart defects. This study was done to find out the risk factors for CHD.
Methods:
A case-control study was done on pediatric patients at a tertiary care hospital, Aga Khan University Hospital, located in Karachi, Pakistan. A total of 500 patients, 250 cases and 250 controls were included in the study.
Results:
Amongst the 250 cases (i.e. those diagnosed with CHD), 122 patients (48.8%) were born of consanguineous marriages while in the controls (i.e. non-CHD) only 72 patients (28.9%) showed a consanguinity amongst parents. On multivariate analysis, consanguinity emerged as an independent risk factor for CHD; adjusted odds ratio 2.59 (95% C. I. 1.73 - 3.87). Other risk factors included low birth weight, maternal co-morbidities, family history of CHD and first born child. On the other hand, medications used by the mother during the index pregnancy, maternal age and gender of the child did not significantly increase the risk of developing CHD.
Conclusions:
Analyses of our results show that parental consanguinity, family history of CHD, maternal co-morbidities, first born child and low birth weight are independent risk factors for CHD.
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