[The contribution of molecular genetics to clinical cardiology: the example of hypertrophic cardiomyopathy].
Recent advances in molecular genetics have resulted in the identification of pathogenic mutations in a number of genes which cause hypertrophic cardiomyopathy (HCM). In order to integrate this increasing genetic knowledge of HCM into the cardiology clinic, we offer all patients and their families diagnosis and genetic counselling based on these current data. In addition, within the framework of a multidisciplinary project between the Divisions of Medical Genetics, Cardiology and Pediatric Cardiology of the University Hospitals of Geneva, we have developed a resequencing array enabling rapid molecular diagnosis of HCM. Data from this study will enhance our understanding of the aetiology of HCM, and improve our knowledge of genotype-phenotype correlations. This information will enable us to develop new therapeutic and preventive concepts, with the aim of tailoring therapies to the specific genetic variant of each patient and its family.
Fokstuen
S
S
Service de génétique médicale, Département de gynécologie et obstétrique, CMU, Genève. Siv.Fokstuen@medcli.unige.ch
Blouin
J L
JL
Lyle
R
R
Lerch
R
R
Beghetti
M
M
Mach
F
F
Sztajzel
J
J
Antonarakis
S E
SE
Sigwart
U
U
D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D003937:Diagnosis, Differential; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008967:Molecular Biology / Q000639:trends