Evaluation of consanguinity as a risk factor for congenital heart diseases

Dev, Deveshwar; Sharma, Rambabu; Sharma, Meenakshi; Agrawal, Kamlesh Kumar; Garg, Manisha

doi:10.18203/2349-3291.ijcp20162356

Cited by 6 publications

(5 citation statements)

References 7 publications

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“…For example, Faisal O. Alatawi [12] reported up to a 57% prevalence of congenital heart defects among infants born to consanguineous marriages in Saudi Arabia. Similarly, Deveshwar Dev et al [13] found that consanguinity in parental marriages confers an increased risk of CHDs in offspring. However, all these studies have not yet established the cause and effect relationship between consanguineous marriage and CHDs in offspring.…”

Section: Discussionmentioning

confidence: 90%

Untitled

2019

Asp Biomed Clin Case Rep

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Maternal exposure to environmental factors has been reported to be associated with birth defects. Congenital heart defects are the most common and are associated with high morbidity and mortality in offspring. However, the relation of maternal rheumatic heart disease to congenital heart defects in the offspring is a rare event not yet reported. The authors report 2 cases of infants with congenital heart defects born from mothers with rheumatic heart disease. This study highlights factors related to congenital heart defects in both newborns.

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Section: Discussionmentioning

confidence: 90%

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2019

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“…13 In a study by Dev D et al 83% of children having CHD were product of consanguineous marriages and these all were Muslims highlighting religion based trend of cousin marriage. 14 The above four studies describe the significant association of parental cousin marriages and incidence of CHD in children. The consanguineous unions in our study case group was 66.4% (p<0.01) which shows significant association of CHD with cousin marriages and variability in incidence of such cases in different parts of the world as seen in above studies.…”

Section: Discussionmentioning

confidence: 99%

Congenital Heart Diseases, a Consequence of Consanguineous Marriages in Punjab, Pakistan

et al. 2022

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Objectives: To find out the association of congenital heart diseases with inbreeding in Punjab, Pakistan. Methodology: This case control study was carried out at Department of Paediatric Cardiology, Faisalabad Institute of Cardiology (FIC) Faisalabad, Pakistan, from December 2019 to February 2020. A total of 768 subjects, 384 cases suffering from congenital heart disease (CHD) and 384 controls having no CHD, both confirmed on echocardiography, were enrolled in the study. Their parents were interviewed regarding age, gender, residential area and data was collected including parental marriage type (consanguineous/ non related) and presence or absence of congenital heart disease through questionnaire. Results: Among cases, 51.3 % were female with female to male ratio 1.05:1. As regard age, 85.7% (n=329) of the children among cases were below 5 years of age. As regard consanguinity, 66.4% (n=255) had consanguineous parents while 33.6% (n=129) of CHD children had parents who were un-related before marriage. Multivariate analysis showed parental consanguinity had strong association with CHD in children; odds ratio 5.84 (95% CI 4.2-7.99) with a P-value of <0.01. Acyanotic CHD was present in 76.8% children (n=295) while 23.2 % had cyanotic CHD (n=89). Ventricular septal defect (VSD) was the most common CHD (32%) followed by atrial septal defect (18.2%) and PDA (13.5%). Conclusion: There is a remarkable association between inbreeding and CHD in Punjab, Pakistan.

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“…Furthermore results of this study indicated that the parental consanguinity was an important risk factor for CHDs as higher proportion of consanguineous marriages among patients with CHDs (associated with PH or not) in comparison to the control group. This finding is consistent with the majority of studies which supports the relationship between consanguineous parentage and CHDs in the offspring as in Becker et al, 2001 who found significant association between first cousin marriage and congenital heart defects, another study have been carried out by Nabulsi et al, 2003 who analyzed a number of demographic parameters in their case group for example gender, age, education level and they reported that consanguinity could lead to segregation of autosomal recessive genes and so concluded the potential role of a multifactorial etiology in CHDs, similarly, Chehab et al, 2007and Dev et al, 2016. However, a study by Fung et al, 2013 Ultimately, this knowledge can be used for early prevention, early risk stratification, and the development of targeted diagnostics and therapies to reduce the health and economic burden of CHDs associated with PH.…”

Section: Chromosome 5p15 Deletion Is Known As Cri Du Chat Syndrome Inmentioning

confidence: 95%

Assessment of Some Genetic and Environmental Risk Factors in Patients With Congenital Heart Diseases Associated With Pulmonary Hypertension

Mona

Amal

et al. 2018

Journal of Environmental Science

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Congenital heart disease (CHDs)-whether it is associated with pulmonary hypertension (PH) or not-is the most common malformation in children. It is an important cause of infant mortality, long term morbidity and disability. Aim of the study is to assess the role of some genetic and environmental risk factors in patients with CHDs associated with PH. Subjects and methods: A case-control study was conducted and included 3 groups of cases; 37 patients with CHDs associated with PH, 37 patients with CHDs and 37 children without any congenital malformations were taken as a control group. The following clinical information was collected through predesigned questionnaires: maternal age at conception; parental consanguinity; maternal gestational diabetes (DM) and hypertension, adverse reproductive history (abortions and still births); and maternal environmental tobacco smoking (ETS) and deficient folic acid intake during pregnancy. Cytogenetic study for patients in the first and second groups of cases was carried out. Results: Chromosomal abnormalities were detected in 13.5% of patients with CHDs associated with PH and 10.8% of patients with CHDs. Maternal age, adverse reproductive history, maternal gestational DM and hypertension were not found to be significantly associated with congenital heart diseases in this study, while parental consanguinity, low maternal education level,

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Evaluation of consanguinity as a risk factor for congenital heart diseases

Cited by 6 publications

References 7 publications

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Congenital Heart Diseases, a Consequence of Consanguineous Marriages in Punjab, Pakistan

Assessment of Some Genetic and Environmental Risk Factors in Patients With Congenital Heart Diseases Associated With Pulmonary Hypertension

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