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Elevated birth prevalence of conotruncal heart defects in a population with high consanguinity rate

Published online by Cambridge University Press:  16 March 2016

Moshe Stavsky Open the ORCID record for Moshe Stavsky [Opens in a new window] ,
Renana Robinson ,
Maayan Yitshak Sade ,
Hanah Krymko ,
Eli Zalstein ,
Viktorya Ioffe ,
Victor Novack  and
Aviva Levitas
Moshe Stavsky
Affiliation:
Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel Soroka Clinical Research Center, Soroka University Medical Center, Beer-Sheva, Israel
Renana Robinson
Affiliation:
Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel
Maayan Yitshak Sade
Affiliation:
Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel Soroka Clinical Research Center, Soroka University Medical Center, Beer-Sheva, Israel
Hanah Krymko
Affiliation:
Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel Department of Pediatric Cardiology, Soroka University Medical Center, Beer-Sheva, Israel
Eli Zalstein
Affiliation:
Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel Department of Pediatric Cardiology, Soroka University Medical Center, Beer-Sheva, Israel
Viktorya Ioffe
Affiliation:
Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel Department of Pediatric Cardiology, Soroka University Medical Center, Beer-Sheva, Israel
Victor Novack
Affiliation:
Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel Soroka Clinical Research Center, Soroka University Medical Center, Beer-Sheva, Israel
Aviva Levitas*
Affiliation:
Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel
*
Correspondence to: Dr A. Levitas, MD, Department of Pediatric Cardiology, Soroka University Medical Center, Rager Boulevard, PO Box 151, Beer-Sheva 85025, Israel. Tel: +9 728 640 0624; Fax: +9 728 624 4343; E-mail: [email protected]
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Abstract

Background

The aetiology of conotruncal heart defects is poorly understood and the birth prevalence varies geographically. The known risk factors for developing conotruncal heart defects are as follows: CHD in siblings, genetic chromosomal abnormalities, paternal age >30 years, high parity, low birth weight, prematurity, and maternal diabetes.

Objective

The aim of this study was to characterise conotruncal heart defects, birth prevalence, mortality, and morbidity in the population of southern Israel, of whom 75% are Jewish and the rest are mostly Bedouin Arabs.

Methods

The data were obtained from Soroka University Medical Center database of births and newborns. Conotruncal heart defects cases were identified by ICD9 codes.

Results

During 1991–2011, there were 247,290 singleton live births and 393 conotruncal heart defects in Soroka University Medical Center. The birth prevalence per 10,000 live births of tetralogy of Fallot, transposition of the great arteries, and truncus arteriosus was 9.5, 5, and 1.8, respectively. In the multivariate analysis, Bedouin descent (adjusted odds ratio 2.40, p<0.001), maternal age >35 years (1.66, p=0.004), and siblings with congenital heart defects (1.98, p=0.005) were associated with tetralogy of Fallot, and Bedouin descent (1.61, p=0.05), siblings with congenital heart defects (2.19, p=0.004), and diabetes mellitus (7.15, p<0.001) were associated with transposition of the great arteries. In a univariate analysis, Bedouin descent (p=0.004) and congenital heart defects in siblings (p<0.001) were associated with truncus arteriosus.

Conclusion

We observed higher birth prevalence of conotruncal heart defects compared with the birth prevalence reported worldwide, specifically among the Bedouins, a population characterised with high consanguinity rate. Therefore, genetic counselling and early fetal echocardiograms should be encouraged, especially in high consanguinity rate populations. Naturally, further educational efforts are needed in order to decrease consanguinity and its related consequences.

Keywords

Conotruncal defectstruncus arteriosustetralogy of Fallottransposition of the great arteriesconsanguinity
Type
Original Articles
Information
Cardiology in the Young , Volume 27 , Issue 1 , January 2017 , pp. 109 - 116
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Copyright
© Cambridge University Press 2016 

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