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Parental consanguinity increases congenital heart diseases in South India
Smitha Ramegowda1, Nallur B Ramachandra
1Department of Studies in Zoology, Human Genetics Laboratory, University of Mysore, Mysore, India.
Insights
Parental consanguinity, particularly first-cousin marriages, significantly increases the risk of congenital heart diseases (CHDs). Public education on the dangers of inbreeding is crucial, especially in regions with high rates of consanguineous unions.
Area of Science:
- Genetics
- Public Health
- Cardiology
Background:
- Congenital heart diseases (CHDs) are common birth defects globally, with significant prevalence in India.
- Parental consanguinity, especially first-cousin marriages, is a known risk factor for CHDs.
Purpose of the Study:
- To investigate the association between consanguineous marriages and the incidence of CHDs in Mysore, South India.
- To identify specific types of CHDs linked to consanguinity.
Main Methods:
- A genetic register and pedigree analysis were conducted.
- Logistic regression analysis was used to assess the risk associated with consanguinity.
- Study included 144 CHD cases and 200 control families.
Main Results:
- First-cousin and uncle-niece marriages showed similar, significant increases in CHDs.
- Atrial septal defect (ASD) and patent ductus arteriosus (PDA) were the most common CHD subtypes associated with consanguinity.
- Findings highlight the role of recessive gene segregation in CHD development.
Conclusions:
- Parental consanguinity elevates the risk of having a child with CHD.
- There is a critical need for public awareness regarding the adverse effects of inbreeding.
- Targeted public health interventions are necessary in areas with high consanguinity rates.
Background:
Congenital heart diseases (CHDs) are the commonest single group of congenital abnormalities with a prevalence ranging from 1.0 to 50.89 per 1000 live births in the world population including India, whereas Mysore has a prevalence of 11.08 per 1000 live births. One of the risk factors for the occurrence of CHDs is parental consanguinity, in particular first-cousin marriage between parents.
Aim:
The present study examined the role of consanguineous marriages in causing CHDs in Mysore, South India.
Subjects And Methods:
A total of 144 confirmed CHD cases with an age range of 1 day to 23 years and a control group of 200 families from different localities of Mysore city were considered for the present study. Methods included the establishment of a genetic register and pedigree analysis followed by statistical analysis by logistic regression.
Results:
The findings revealed that first-cousin marriages (44.68%) and uncle-niece marriages (46.81%) are equally significant in increasing CHDs. The subtypes of CHDs associated with consanguinity were found to be atrial septal defect (ASD) and patent ductus arteriosus (PDA). These findings emphasize the important role played by segregation of recessive genes in the offspring resulting in the causation of CHDs.
Conclusion:
Therefore, for every incidence of parental consanguinity, the risk (odds) of birth of a child with CHD increases. There is an urgent need to educate the public on the deleterious effects of inbreeding, especially in India, which has high overall consanguinity.
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