title: Familial hypertrophic cardiomyopathy: clinical features, molecular genetics and molecular genetic testing.
abstract: Hypertrophic cardiomyopathy is a Mendelian disease characterized by cardiac hypertrophy. It has a prevalence of 1:500 individuals and is the most common cause of sudden death in the young. Other complications include heart failure and the need for heart transplantation. Hypertrophic cardiomyopathy is due to sarcomeric gene mutations, however, phenocopies with myocardial hypertrophy can be due to triplet-repeat syndromes (Friedreich ataxia and myotonic dystrophy), mitochondrial and metabolic diseases. In a peculiar form associated with Wolf-Parkinson-White syndrome, the disease is caused by mutations in the gamma2 regulatory subunit of the AMP-activated protein kinase gene, leading to a glycogen storage cardiomyopathy. In spite of the growing knowledge about the molecular basis of hypertrophic cardiomyopathy, very little is still known about the genotype-phenotype correlations and their clinical implications. In this review, the clinical and molecular genetics of hypertrophic cardiomyopathy are described.
authors.affiliation: Adult medical Genetics Clinic, Department of Internal Medicine, UCHSC, Aurora, Colorado 80010, USA. Matthew.Taylor@UCHSC.edu
authors.forename: Matthew R G
authors.initials: MR
authors.lastname: Taylor
authors.forename: Elisa
authors.initials: E
authors.lastname: Carniel
authors.forename: Luisa
authors.initials: L
authors.lastname: Mestroni
mesh_terms: D000818:Animals; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D004272:DNA, Mitochondrial / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D009154:Mutation / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial