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

Gev, David; Roguin, Nathan; Freundlich, E

doi:10.1159/000153628

Cited by 37 publications

(37 citation statements)

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“…Out of those 17 patients, 3 (17.6%) had another recessively inherited condition, while 7 patients had congenital malformations. The latter is in agreement with previous observations concerning the relation between consanguinity and the risk of congenital malformations [17][18][19] . These observations probably speak for the possible role of consanguinity in increasing the risk for these congenital malformations in addition to the risk of co-inheritance of more than one recessive disease-causing allele.…”

Section: Discussionsupporting

confidence: 93%

Consanguinity, Endogamy and Inborn Errors of Metabolism in Oman: A Cross-Sectional Study

Al‐Thihli

Al-Murshedi²,

Al‐Hashmi

et al. 2014

Hum Hered

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The Sultanate of Oman, like many other Arab countries, has relatively high rates of consanguinity. Reports suggest that the incidence of inborn errors of metabolism (IEM) is also high in Oman. This retrospective cross-sectional study was designed to evaluate the number of patients with IEM being followed at the only two tertiary centers in Oman treating such patients, and to calculate the consanguinity rates among these families. The electronic medical records of all patients were reviewed for demographic and clinical characteristics. A total of 285 patients with IEM were being followed at the 2 centers involved; 162 (56.8%) were male and 123 (43.2%) were female. The history of consanguinity was documented or available for 241 patients: 229 patients (95%) were born to consanguineous parents related as second cousins or closer. First-cousin marriages were reported in 191 families (79.3%), while 31 patients (12.9%) were born to second cousins. The parents of 5 patients (2%) were related as double first cousins, and 2 patients (1%) were born to first cousins once removed. The average coefficient of inbreeding (F) in our study was 0.081. Seventeen patients (6%) had associated comorbid conditions other than IEM. Our study highlights the clinical burden of IEM in Oman and emphasizes the high consanguinity rates among the parents of affected patients.

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Section: Discussionsupporting

confidence: 93%

Consanguinity, Endogamy and Inborn Errors of Metabolism in Oman: A Cross-Sectional Study

Al‐Thihli

Al-Murshedi²,

Al‐Hashmi

et al. 2014

Hum Hered

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“…For example, Gev et al tracked all children born between 1976–1983 in five villages in the Western Galilee region of Northern Israel [Gev et al 1986]. Of the 1546 children born, the authors found 2 that had died of CHD and found 25 additional children with disease.…”

Section: Resultsmentioning

confidence: 99%

Consanguinity and the risk of congenital heart disease

Shieh

Bittles

Hudgins

2012

American J of Med Genetics Pt A

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Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is less clear, particularly since the disease pathophysiology may involve genetic and environmental/epigenetic factors. In this study we ask whether consanguinity affects one of the most common birth defects, congenital heart disease, and identify areas for further research into these birth defects, since consanguinity may now impact health on a near-global basis. A systematic review of consanguinity in congenital heart disease was performed, focusing on non-syndromic disease, with the methodologies and results from studies of different ethnic populations compared. The risks for congenital heart disease have been assessed and summarized collectively and by individual lesion. The majority of studies support the view that consanguinity increases the prevalence of congenital heart disease, however the study designs differed dramatically. Only a few (n = 3) population-based studies that controlled for potential sociodemographic confounding were identified, and data on individual cardiac lesions were limited by case numbers. Overall the results suggest that the risk for congenital heart disease is increased in consanguineous unions in the studied populations, principally at first cousin level and closer, a factor that should be considered in empiric risk estimates in genetic counseling. However, for more precise risk estimates a better understanding of the underlying disease factors is needed.

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“…Congenital heart defects (Gev et al, 1986;Stoll et al, 1989;Badaruddoza et al, 1994;Hassan et al, 1997;Bassili et al, 2000;Roodpeyma et al, 2002;Nabulsi et al, 2003;Sandridge, 2006), reproductive wastage, infertility, stillbirth, infant mortality (Al-Awadi et al, 1986;Chitty & Winter, 1989;Basaran et al, 1989;Khoury & Massad, 1992, 2000Bundey & Alam, 1993;Jain et al, 1993;Bittles et al, 1993;Al Husain & Al-Bunyan, 1997;Stoltenberg et al, 1997Stoltenberg et al, , 1999Al-Abdulkareem & Ballal, 1998;Dorsten et al, 1999;Mokhtar & Abdel-Fattah, 2001), under-5 mortality (Hussain et al, 2001), hearing loss (Zakzouk et al, 1993;Al-Gazali et al, 1995;Zakzouk, 2002;Al Khabori, 2004;Ben Arab et al, 2004;Bener et al, 2005), serious cognitive and mild cognitive disability (Bashi, 1977;Stein et al, 1987;Afzal, 1988;Al-Ansari, 1993;Durkin et al, 2000), Down syndrome (Alfi et al, 1980;Basaran et al, 1989;Zlotogora, 1997;Stoll et al, 1998;Rittler et al, 2001), apnoea of pre-maturity (Tamim et al, 2003), reading disabiliti...…”

Section: Specific Investigations Assessing Impact On Health Of Consanmentioning

confidence: 99%

Consanguinity in Qatar: Knowledge, Attitude and Practice in a Population Born Between 1946 and 1991

et al. 2009

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From March 2007 to March 2008 a cross-sectional study was conducted in Qatar to estimate the prevalence of consanguinity among Qataris and to assess their knowledge of the risks and their attitudes towards the practice. A secondary objective was to test the acceptability of sixteen Likert-style questions within the Qatari population. Face-to-face interviews using a 70-item structured questionnaire were conducted by three native Arabic-speaking medical students with 362 Qatari employees. Where consanguinity existed between the employee's parents, a diagram of the consanguinal relationship (phylogram) was completed. The response rate was 93%. By phylogram, 22% of participants reported a cousin relationship between their parents (consanguinal relationship) and another 15% reported that their parents were from the same tribe (affinal relationship). With respect to their own marital decision, 68% of the respondents had been married at least once. By phylogram, 35% of these reported a consanguineous relationship (first marriage), 9% reported only an affinal relationship and 56% reported that they were not married to a blood relative. Results on the sixteen Likert-style attitude questions were stratified by consanguinity status of parents and of self. In the stratification by consanguinity status of parents the top five attitudes differed by group but there appeared to be more similarity between the consanguinal and only tribal groups. Attitudinal results were stratified by sex. Results showed that the males had a stronger belief in several of the attitudes than females with the exception of causation of genetic abnormalities and health problems. The phylogram was shown to collect more detailed and explicit data than hard-coding. With respect to knowledge, the results showed that knowledge was imperfect with high proportions of participants not knowing that consanguinity has been implicated in autosomal recessive diseases such as thalassaemia, inborn errors of metabolism, deafness, anomalies of the extremities and specific congenital heart defects. Additionally, a sizeable proportion of the participants did not know that a more distant cousin marriage (e.g. third cousin) theoretically could be a less genetically risky choice to potential offspring than a closer cousin marriage (half-first cousin). These results indicate that more effort needs to be made in developing public health strategies to improve the population's understanding of the cost-benefit analysis involved in contracting consanguineous marriages given the goal of healthy offspring.

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

Cited by 37 publications

References 10 publications

Consanguinity, Endogamy and Inborn Errors of Metabolism in Oman: A Cross-Sectional Study

Consanguinity, Endogamy and Inborn Errors of Metabolism in Oman: A Cross-Sectional Study

Consanguinity and the risk of congenital heart disease

Consanguinity in Qatar: Knowledge, Attitude and Practice in a Population Born Between 1946 and 1991

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