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Congenital cardiac disease and inbreeding: specific defects escape higher risk due to parental consanguinity

Published online by Cambridge University Press:  27 June 2007

Ghassan Chehab ,
Philippe Chedid ,
Zakhia Saliba  and
Patrice Bouvagnet
Ghassan Chehab
Affiliation:
Department of Paediatrics, Lebanese University, Faculty of Medical Sciences, Hadath, Greater Beirut, Lebanon Paediatric Department, CHU Hôtel-Dieu de France, Beirut, Lebanon
Philippe Chedid
Affiliation:
Department of Paediatrics, Lebanese University, Faculty of Medical Sciences, Hadath, Greater Beirut, Lebanon
Zakhia Saliba
Affiliation:
Paediatric Department, CHU Hôtel-Dieu de France, Beirut, Lebanon
Patrice Bouvagnet*
Affiliation:
Laboratoire Cardiogénétique, ERM 0107INSERM, Bron, France Service de Cardiologie Pédiatrique, Groupe Hospitalier Est, Hospices Civils de Lyon, Bron, France Université Lyon 1, Lyon, France
*
Correspondence to: Patrice Bouvagnet, MD, PhD, Laboratoire de Cardiogénétique, Groupe Hospitalier Est, 28 Avenue Doyen Lépine, 69677 Bron cedex, France. Tel: +33 472 12 96 76; Fax: +33 472 35 70 49; E-mail: Patrice.Bouvagnet@recherche.univ-lyon1.fr
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Abstract

Aims

To test on a large cohort whether parental consanguinity varies among different types of congenitally malformed hearts.

Methods and Results

Between 1 May, 1999, and 28 February, 2006, a large cohort of 1585 newly diagnosed cases with non-syndromic congenitally malformed heart was enrolled at the National Register of Paediatric and Congenital Heart Disease, Lebanese Society of Cardiology, Beirut. Another group, made up of 1979 cases referred to the National Register of Paediatric and Congenital Heart Disease, but free of any malformation, and with a rate of consanguinity similar to a recent survey made by UNICEF in Lebanon, was used for the purposes of control. We used the Chi-squared test, and ratio of risk, to compare the groups.

Subgroups with first degree cousins, first plus second degree cousins, and any degree of consanguinity, are significantly larger in the cohort with congenitally malformed hearts than in the control cohort, with proportions of 19.4%, 25.7%, and 27.4% versus 14.4%, 20.3%, and 23.9%, respectively. Those with tetralogy of Fallot, valvar aortic stenosis, and atrial septal defect have a significantly higher percentage of consanguineous parents than do the controls. By contrast, this is not the case for those with atrioventricular septal defect and common atrioventricular junction (“atrioventricular canal”), or discordant ventriculo-arterial connections (“transposition”). These differences persist when the types of congenital cardiac defect types are pooled according to presumed embryological processes. Those with hypoplasia of the left heart have increased parental consanguinity, but not the group of various types of discordant ventriculo-arterial connections.

Conclusion

Only some types of congenitally malformed hearts have an increased percentage of parental consanguinity, suggesting that those types with no increased risk due to parental consanguinity are determined by genetic factors that are X-linked or exclusively autosomal dominant.

Keywords

ConsanguinityLebanoncongenital heart disease
Type
Original Article
Information
Cardiology in the Young , Volume 17 , Issue 4 , August 2007 , pp. 414 - 422
Copyright
Copyright © Cambridge University Press 2007

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Footnotes

*

Sources of financial support: Research work of Dr. P. Bouvagnet and Laboratoire de CardioGénétique is supported by Foundation Renaud FEBVRE and the Programme Franco-Libanais Cèdre.

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