title: [Fabry disease among hypertrophic cardiomyopathy of genetic origin].
abstract: Primary hypertrophic cardiomyopathy is a relatively frequent disease (1/500) which results from a mutation in a gene encoding a sarcomeric protein. In a series of 184 cases, nearly half (46 %) were secondary to a mutation in one of the 4 following genes : MYBPC3, MYH7, TNNI3, TNNT2. In Fabry disease, an exclusive or nearly exclusive cardiac expression is possible and referred to as "cardiac variant". The hypertrophic cardiomyopathy of Fabry disease is usually unspecific. Two series reported a prevalence of Fabry disease of about 6% among male cases. An Italian series of 34 female cases with hypertrophic cardiomyopathy demonstrated that it was feasible to diagnose Fabry disease in females by screening for specific lesions in myocardial biopsies. We detected a patient who initially presented with a common hypertrophic cardiomyopathy except that his ECG showed depression of ST segment and inversion of T wave in leads D1, VL and in precordial leads. The family history revealed several affected relatives and female carriers. In conclusion, an isolated common hypertrophic cardiomyopathy may be secondary to Fabry disease. Male patients should be screened systemically for enzyme defect except in cases of father-to-son transmission. In females, an affected male relative should be searched for screening or the GLA gene should be sequenced. It is important to think about a putative Fabry disease in cases with hypertrophic cardiomyopathy not associated with any obvious cause.
authors.affiliation: Laboratoire Cardiogénétique, Groupe Hospitalier Est, Hospices Civils de Lyon, Lyon, France. Patrice.Bouvagnet@chu-lyon.fr
authors.forename: P
authors.initials: P
authors.lastname: Bouvagnet
authors.forename: G
authors.initials: G
authors.lastname: Millat
authors.forename: R
authors.initials: R
authors.lastname: Rousson
authors.forename: G
authors.initials: G
authors.lastname: Gilbert
authors.forename: G
authors.initials: G
authors.lastname: Derumeaux
mesh_terms: D024722:Cardiac Myosins / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics*; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000235:genetics* / Q000473:pathology; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012518:Sarcomeres / Q000235:genetics; D019210:Troponin I / Q000235:genetics*; D020107:Troponin T / Q000235:genetics*; D000099163:Myosin Binding Protein C
chemical_list: D024722:Cardiac Myosins; D002352:Carrier Proteins; D005819:Genetic Markers; D018995:Myosin Heavy Chains; D019210:Troponin I; D020107:Troponin T; D000099163:Myosin Binding Protein C; C501641:MYH7 protein, human; C545568:TNNT2 protein, human