Familial aggregation of calcific aortic valve stenosis in the western part of France.
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.


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 > or =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.
Probst
Vincent
V
l'Institut du thorax, Service de Cardiologie, Nantes, France. vincent.probst@chu-nantes.fr
Le Scouarnec
Solena
S
Legendre
Antoine
A
Jousseaume
Valérie
V
Jaafar
Philippe
P
Nguyen
Jean-Michel
JM
Chaventré
André
A
Le Marec
Hervé
H
Schott
Jean-Jacques
JJ
D001024:Aortic Valve Stenosis / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics; D002114:Calcinosis / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics; D016000:Cluster Analysis; D005192:Family Health; D005260:Female; D018703:Founder Effect; D005602:France / Q000453:epidemiology; D005789:Genealogy and Heraldry; D005843:Geography; D006801:Humans; D008297:Male; D010375:Pedigree; D012189:Retrospective Studies