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

Yunis, Khalid; Mumtaz, Ghina R.; Bitar, Fadi; Chamseddine, F; Kassar, M.; Rashkidi, J; Makhoul, G.; Tamim, Hani

doi:10.1002/ajmg.a.31409

Cited by 11 publications

(12 citation statements)

References 19 publications

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“…Although a consistent positive association between consanguinity and disorders such as ventricular septal defect and atrial septal defect has been demonstrated, indicating the involvement of common variants, both positive and negative associations with patent ductus arteriosus, atrioventricular septal defect, pulmonary atresia, and tetralogy of Fallot have been reported in different populations (71)(72)(73)(74), suggestive of community-specific founder mutations. It is, however, also possible that nonstandardized diagnostic protocols may have contributed to the variant findings reported by different study centers.…”

Section: Consanguinity and Complex Diseasesmentioning

confidence: 99%

Consanguinity, human evolution, and complex diseases

Bittles

Black

2010

Proc. Natl. Acad. Sci. U.S.A.

472

308

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There is little information on inbreeding during the critical early years of human existence. However, given the small founding group sizes and restricted mate choices it seems inevitable that intrafamilial reproduction occurred and the resultant levels of inbreeding would have been substantial. Currently, couples related as second cousins or closer (F ≥ 0.0156) and their progeny account for an estimated 10.4% of the global population. The highest rates of consanguineous marriage occur in north and sub-Saharan Africa, the Middle East, and west, central, and south Asia. In these regions even couples who regard themselves as unrelated may exhibit high levels of homozygosity, because marriage within clan, tribe, caste, or biraderi boundaries has been a long-established tradition. Mortality in first-cousin progeny is ≈3.5% higher than in nonconsanguineous offspring, although demographic, social, and economic factors can significantly influence the outcome. Improving socioeconomic conditions and better access to health care will impact the effects of consanguinity, with a shift from infant and childhood mortality to extended morbidity. At the same time, a range of primarily social factors, including urbanization, improved female education, and smaller family sizes indicate that the global prevalence of consanguineous unions will decline. This shift in marriage patterns will initially result in decreased homozygosity, accompanied by a reduction in the expression of recessive single-gene disorders. Although the roles of common and rare gene variants in the etiology of complex disease remain contentious, it would be expected that declining consanguinity would also be reflected in reduced prevalence of complex diseases, especially in population isolates. community genetics | inbreeding | reproduction | health | social structure

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Section: Consanguinity and Complex Diseasesmentioning

confidence: 99%

Consanguinity, human evolution, and complex diseases

Bittles

Black

2010

Proc. Natl. Acad. Sci. U.S.A.

472

308

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“…Similarly our study also found M:F ratio 1.90 similar to the studies of Hussain [1] and Kumar [2] which was 2.08:1 and 1.78:1 respectively. In contrast, Khalid [3] and Khan [4] didn't find much of gender disparity. Gender discrepancy is quite striking, might be because of early reporting of male progeny by the parents.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of Cyanotic Heart Defects and Their Modes of Presentation at Cardiology Clinic in a Tertiary Care Hospital

Gupta¹,

Abqari²,

Shahab³

et al. 2016

AIMDR

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Background: Cyanotic Congenital heart defect (CHD) is the high risk group which requires prompt medical attention. Immediate management can drastically alter the natural history otherwise most of the children will succumb to their defect very early in infancy. It is thus important to have reliable information of the profile of various cyanotic CHDs as well as their mode of presentation for the early detection. Methods: The study was carried out in

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“…Khalid yunis, Reem SLRafel, 15 in 2008 stated in their article that most common form of consanguineous union was between first cousins i.e., third degree relationship.…”

Section: Citymentioning

confidence: 99%

Effect of Consanguinity on Congenital Defects

Charmode¹

2015

jemds

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CONTEXT/BACKGROUND: Congenital malformations have been known and recognized for centuries. It is a stimulating problem for research because of the high frequency of their occurrence and the influence of consanguinity on these defects is even more devastating problem. AIM AND OBJECTIVES: To determine the effect of consanguinity in occurrence of congenital defects and occurrence of more common types of congenital defects. MATERIALS AND METHODS: The study was done retrospectively in Government medical college and civil hospitals between 1 st Oct. 2011 till 31 st May 2012. A total of 182 congenitally defective live births and still births admitted in above hospitals in same period were studied against total deliveries taken place. Information was collected by using questionnaires and pedegree charts were formed. Information about consanguinity, degree of consanguinity, type and subtype of anomaly etc. was obtained. Data obtained was statistically analysed and compared with previous studies. RESULTS: Incidence of congenital anomalies was 1.16%. Cardiovascular defects were the most common type of anomaly and atrial septal defect was most common subtype. Third degree / first cousins was the most common type of degree of consanguinity found amongst all. Male pre-ponderence was found amongst the anomalous births. Frequency of consanguineous marriages was found more in muslims than hindus. DISCUSSION AND CONCLUSIONS: 1. Births with congenital defects were commonly occurring among normal births and the incidence calculated was 1.79 % in the present study. 2. Cardiovascular defects were most common type of defects. 3. In the present study, it was found that third degree consanguinity cases were most common, about 56.25 % out of all 48 consanguineous cases. 4. In the present study congenital defects were found to occur more commonly in consanguineous unions than non-consanguineous unions.

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

Abstract: The original article to which this Erratum refers was published in Am J Med Genet Part A 140A:1524–1530.

Cited by 11 publications

References 19 publications

Consanguinity, human evolution, and complex diseases

Consanguinity, human evolution, and complex diseases

Spectrum of Cyanotic Heart Defects and Their Modes of Presentation at Cardiology Clinic in a Tertiary Care Hospital

Effect of Consanguinity on Congenital Defects

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