title: Familial aggregation of calcific aortic valve stenosis in the western part of France.
abstract: 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.
authors.affiliation: l'Institut du thorax, Service de Cardiologie, Nantes, France. vincent.probst@chu-nantes.fr
authors.forename: Vincent
authors.initials: V
authors.lastname: Probst
authors.forename: Solena
authors.initials: S
authors.lastname: Le Scouarnec
authors.forename: Antoine
authors.initials: A
authors.lastname: Legendre
authors.forename: Valérie
authors.initials: V
authors.lastname: Jousseaume
authors.forename: Philippe
authors.initials: P
authors.lastname: Jaafar
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Nguyen
authors.forename: André
authors.initials: A
authors.lastname: Chaventré
authors.forename: Hervé
authors.initials: H
authors.lastname: Le Marec
authors.forename: Jean-Jacques
authors.initials: JJ
authors.lastname: Schott
mesh_terms: 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