Published Online
on February 6, 2006

A more recent version of this article appeared on February 14, 2006

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Submitted on June 16, 2005
Revised on October 24, 2005
Accepted on December 2, 2005

Familial Aggregation of Calcific Aortic Valve Stenosis in the Western Part of France

Vincent Probst MD, PhD^*, Solena Le Scouarnec MSc, Antoine Legendre MD, Valérie Jousseaume PhD, Philippe Jaafar MD, Jean-Michel Nguyen MD, André Chaventré PhD, Hervé Le Marec MD, PhD, and Jean-Jacques Schott PhD

From l’Institut du thorax, Service de Cardiologie, Nantes (V.P., A.L., P.J., H. L M.); Institut du Thorax, INSERM U533, Nantes (V.P., S.L.S., A.C., H.L.M., J.-J.S.); CNRS CESTAN, Nantes (V.J.); PIMESP, Centre Hospitalier Universitaire de Nantes, Nantes (J.-M.N.); and Laboratoire D’étude de Génétique des Populations, Université de Bordeaux, Bordeaux (A.C.), France.

^* To whom correspondence should be addressed. E-mail: vincent.probst{at}chu-nantes.fr.

Background--Calcific aortic valve stenosis (CAVS) is the most common valvular defect in developed countries. Unlike mitral valve prolapse, there is no demonstration that a familial factor could play a role in the occurrence of this disease. The aim of this study was to demonstrate a familial aggregation for CAVS.

Methods and Results--We used the files of 2527 consecutive patients operated on for CAVS in our institution between 1992 and 2002 to map the distribution of operated CAVS in the western part of France. In a second step, we investigated clinically and genealogically the clusters with the highest rates of operated CAVS to detect familial forms of the disease. The geographic distribution of CAVS is highly heterogeneous, with an average frequency of operated CAVS of 1.13 per 1000 inhabitants but up to 9.38 per 1000 in specific parishes. A screening of the population from the parishes with the highest rate of operated CAVS allowed us to identify 5 families with 3 sibs affected by CAVS. A large genealogical analysis performed in one of these families allowed us to link 48 patients who derived from 34 nuclear families. Genealogical information could be traced to a common ancestor within 13 generations.

Conclusions--Identification of clusters and large families affected by a classic form of CAVS demonstrates a familial aggregation for this disease.

Key words: aorta • epidemiology • genetics • stenosis • valves

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