Annals of Pediatric Cardiology 2011 (original) (raw)

Assessing the influence of consanguinity on congenital heart disease

Annals of Pediatric Cardiology, 2011

Numerous articles have been published linking consanguineous marriage to an elevated prevalence of congenital heart disease, with ventricular septal defects and atrial septal defects the most commonly cited disorders. While initially persuasive, on closer examination many of these studies have fundamental shortcomings in their design and in the recruitment of study subjects and controls. Improved matching of cases and controls, to include recognition of the long-established community boundaries within which most marriages are contracted, and the assessment of consanguinity within specific levels and types of marital union would improve and help to focus the study outcomes. At the same time, major discrepancies between studies in their reported prevalence and types of congenital heart disease suggest an urgent need for greater standardization in the classification and reporting of these disorders.

Consanguineous marriage and congenital heart defects: A case-control study in the neonatal period

American Journal of Medical Genetics Part A, 2006

The independent effect of consanguinity on the prevalence of congenital heart defects (CHDs), all and specific types, was investigated in newborns admitted to nine hospitals located in Beirut, Lebanon and members of the National Collaborative Perinatal Neonatal Network (NCPNN). Cases were 173 newborns admitted to the Neonatal Intensive Care Units (NICU) of participating hospitals during the 3-year period from January 1, 2000 to December 31, 2002 and diagnosed during their hospital stay as having one or more CHD. Cases with chromosomal abnormalities were excluded. Cases with more than one CHD were assigned one principal malformation. Controls consisted of a random sample of 865 newborns without a CHD admitted to the NICU during the same period. After controlling for confounders, first cousin consanguinity remained significantly associated with an increased risk of CHD: infants born to first cousin marriages had a 1.8 times higher risk of having a CHD diagnosed at birth compared to those born to unrelated parents (95% CI: 1.1-3.1). In particular, first-cousin marriage was a significant risk factor for ventricular septal defect (VSD), atrial septal defect (ASD), hypoplastic left heart (HLH), and single ventricle (SV). No association was found with d-transposition of the great arteries, coarctation, pulmonary atresia (PA), atrioventricular septal defect (AVSD), and tetralogy of Fallot (TOF). The results of this study suggest a familial factor in the multifactorial etiology of CHDs. Additional epidemiologic and family-based genetic studies are needed to understand the complex cause of CHDs.

Consanguinity and congenital heart disease in offspring

2018

Background High-risk acute lymphoblastic leukemia (ALL) is one Background Congenital heart disease (CHD) is a common congenital abnormality in children. Consanguineous marriage has been identified as a risk factor of CHD. There was an autosomal recessive pattern of inheritance seen in children with some forms of congenital heart disease. Objective To assess the possible association between consanguineous marriage and congenital heart disease incidence in the offspring. Methods A case-control study was conducted from March to May 2016 on pediatric patients at H. Adam Malik General Hospital, Medan. Subjects were allocated into two groups, 100 children with CHD in the case group, and the rest in the control group. Data were analyzed using Chi-square and logistic regression tests. In the present study, P value less than 0.05 was considered statistically significant. Results In the case group, 14 patients (14%) were born of consanguineous marriages. In the control group, only 5 patients ...

Consanguinity and congenital heart disease in Saudi Arabia

American Journal of Medical Genetics, 2001

First-cousin marriage may be a signi®cant risk factor for speci®c 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) identi®ed 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 ®rstcousin 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 ®rst 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, ®rst-cousin consanguinity was signi®cantly 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 ®rst cousins. There may be a recessive component in the causation of some cardiac defects.

Perinatal outcome of congenital heart disease in a population with high consanguinity

Journal of Perinatal Medicine, 2015

To report the perinatal pattern and outcome of fetuses with congenital heart disease (CHD) in consanguineous marriages.Retrospective chart review was performed for fetuses undergoing fetal echocardiography (FE) in our institution. The primary outcome was survival at 28 days after birth.Between 1 January 2005 and 31 December 2010, 1950 pregnant women carrying 2151 fetuses underwent a total of 2828 FEs. CHD was diagnosed in 152 fetuses (7.1%), and perinatal outcome was available in 120, among which 78 (65%) had consanguineous parents. Thirteen fetuses diedJoint FE clinics detect most CHD with high accuracy. Consanguinity contributes to a higher prevalence of fetal cardiac and non-cardiac malformations. The presence of extracardiac anomalies is associated with an increase in perinatal mortality.

Consanguinity and Congenital Heart Disease in the Rural Arab Population in Northern Israel

Human Heredity, 1986

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

Pakistan Heart Journal, 2022

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-rela...

Annals of Pediatric Cardiology 2011 (original) (raw)

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