title: Penetrance of familial hypertrophic cardiomyopathy.
abstract: Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant cardiac disease for which the penetrance remains a much-debated issue. Since the recent identification of the genes involved in the disease, the penetrance of FHC has not been reassessed in a large genotyped population. The aim of our study was therefore to evaluate it, according to age and sex, in ten families with previously identified mutations. Among 178 individuals we studied, 90 were genetically affected (9 different mutations in 3 genes). We found that penetrance, assessed by classical echocardiographic and electrocardiographic criteria, was (1) incomplete: 69%; (2) age-related: 55% between 10 and 29 years old, 75% between 30 and 49 y. and 95% over 50 y.; (3) greater in males than in females: 77% vs 58%, age-adjusted odds ratio: 3.98, CI 95%: 1.34 to 11,48; (4) similar for the genes analyzed. The consequences of these results for genetic counseling and linkage analyses are discussed.
authors.affiliation: Service de Cardiologie, Hôpital Pitié-Salpêtrière, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Charron
authors.forename: L
authors.initials: L
authors.lastname: Carrier
authors.forename: O
authors.initials: O
authors.lastname: Dubourg
authors.forename: F
authors.initials: F
authors.lastname: Tesson
authors.forename: M
authors.initials: M
authors.lastname: Desnos
authors.forename: P
authors.initials: P
authors.lastname: Richard
authors.forename: G
authors.initials: G
authors.lastname: Bonne
authors.forename: P
authors.initials: P
authors.lastname: Guicheney
authors.forename: B
authors.initials: B
authors.lastname: Hainque
authors.forename: J B
authors.initials: JB
authors.lastname: Bouhour
authors.forename: A
authors.initials: A
authors.lastname: Mallet
authors.forename: J
authors.initials: J
authors.lastname: Feingold
authors.forename: K
authors.initials: K
authors.lastname: Schwartz
authors.forename: M
authors.initials: M
authors.lastname: Komajda
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D005817:Genetic Counseling; D008040:Genetic Linkage / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype