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Consanguinity and congenital heart disease in Saudi Arabia
S M Becker1, Z Al Halees, C Molina
1Epidemiology Section, King Faisal Specialist Hospital and Research Center, MBC 03, P.O. Box 3354, Riyadh 11211, Saudi Arabia. susanbecker@hotmail.com
Insights
First-cousin marriage increases the risk of certain congenital heart defects (CHD) in inbred populations. This suggests a genetic component, specifically autosomal recessive inheritance, for conditions like ventricular septal defect.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Consanguineous populations often exhibit higher rates of genetic disorders.
- Inbreeding studies suggest an autosomal recessive inheritance pattern for some congenital heart defects (CHD).
- Understanding genetic risk factors for CHD is crucial for early diagnosis and intervention.
Purpose of the Study:
- To investigate the association between first-cousin consanguinity and specific types of congenital heart defects (CHD).
- To determine if consanguinity acts as a risk factor for structural CHD in a highly inbred population.
- To explore the potential for autosomal recessive gene involvement in CHD etiology.
Main Methods:
- A registry-based study of 891 consecutive patients with structural congenital heart defects (CHD) in Riyadh, Saudi Arabia.
- Data collection included first-cousin consanguinity status and specific CHD diagnoses.
- Statistical analysis using a z test of proportions to assess the association between consanguinity and CHD subtypes.
Main Results:
- The proportion of first-cousin marriages was significantly higher in the CHD patient sample compared to the general population.
- First-cousin consanguinity showed a significant association with ventricular septal defect (VSD), atrial septal defect (ASD), atrioventricular septal defect (AVSD), pulmonary stenosis (PS), and pulmonary atresia (PA).
- No significant association was found between consanguinity and tetralogy of Fallot (TOF), tricuspid atresia (TA), aortic stenosis (AS), co-arctation of the aorta (CoA), or patent ductus arteriosus (PDA).
Conclusions:
- Consanguinity, particularly first-cousin marriage, is a significant risk factor for specific congenital heart defects in consanguineous populations.
- The findings support the hypothesis of an autosomal recessive component in the causation of certain CHDs.
- Inbreeding may exacerbate underlying genetic predispositions for cardiac defects in offspring of related parents.
Abstract:
First-cousin marriage may be a significant risk factor for specific types of congenital heart disease in a consanguineous population. Inbreeding studies suggest an autosomal recessive component in the cause of some congenital heart defects. We studied a large sample of patients with structural congenital heart defects (CHD) identified through the Congenital Heart Disease Registry at King Faisal Specialist Hospital in Riyadh, Saudi Arabia. After exclusions of chromosome abnormalities and non-participation, data were collected on 891 consecutive patients who were registered between January and August, 1998. Data on first-cousin consanguinity and type of CHD diagnosis were collected. A z test of proportions was used to determine the association between consanguinity and subtypes of CHD. Data indicate that the proportion of first cousins in the CHD sample is higher than the proportion in the general population, supporting a hypothesis of autosomal recessive gene involvement in congenital heart disease. When subgroups of CHD were analyzed, first-cousin consanguinity was significantly associated with ventricular septal defect (VSD), atrial septal defect (ASD), atrioventricular septal defect (AVSD), pulmonary stenosis (PS), and pulmonary atresia (PA). There was no relationship between consanguinity and tetralogy of Fallot (TOF), tricuspid atresia (TA), aortic stenosis (AS), co-arctation of the aorta (CoA), and patent ductus arteriosus (PDA). Thus, in a population with a high degree of inbreeding, consanguinity may exacerbate underlying genetic risk factors, particularly in the offspring of first cousins. There may be a recessive component in the causation of some cardiac defects.