title: Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies.
abstract: Cardiomyopathies are classified according to distinct morphological characteristics. They occur relatively frequent and are an important cause of mortality and morbidity. Isolated ventricular non-compaction or non-compaction cardiomyopathy (NCCM) is characterized by an excessively thickened endocardial layer with deep intertrabecular recesses, reminiscent of the myocardium during early embryogenesis. Aims Autosomal-dominant as well as X-linked inheritance for NCCM has been described and several loci have been associated with the disease. Nevertheless, a major genetic cause for familial NCCM remains to be identified. Methods and Results We describe, in two separate autosomal-dominant NCCM families, the identification of mutations in the sarcomeric cardiac beta-myosin heavy chain gene (MYH7), known to be associated with hypertrophic cardiomyopathy (HCM), restricted cardiomyopathy (RCM), and dilated cardiomyopathy (DCM). Conclusion These results confirm the genetic heterogeneity of NCCM and suggest that the molecular classification of cardiomyopathies includes an MYH7-associated spectrum of NCCM with HCM, RCM, and DCM.
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, Dr Molewaterplein 50, 3015GE Rotterdam, The Netherlands.
authors.forename: Yvonne M
authors.initials: YM
authors.lastname: Hoedemaekers
authors.forename: Kadir
authors.initials: K
authors.lastname: Caliskan
authors.forename: Danielle
authors.initials: D
authors.lastname: Majoor-Krakauer
authors.forename: Ingrid
authors.initials: I
authors.lastname: van de Laar
authors.forename: Michelle
authors.initials: M
authors.lastname: Michels
authors.forename: Maarten
authors.initials: M
authors.lastname: Witsenburg
authors.forename: Folkert J
authors.initials: FJ
authors.lastname: ten Cate
authors.forename: Maarten L
authors.initials: ML
authors.lastname: Simoons
authors.forename: Dennis
authors.initials: D
authors.lastname: Dooijes
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002311:Cardiomyopathy, Dilated / Q000000981:diagnostic imaging / Q000235:genetics*; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000000981:diagnostic imaging / Q000235:genetics*; D002313:Cardiomyopathy, Restrictive / Q000000981:diagnostic imaging / Q000235:genetics*; D004452:Echocardiography / Q000379:methods; D005260:Female; D006333:Heart Failure / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D024723:Ventricular Myosins / Q000235:genetics*
chemical_list: D024723:Ventricular Myosins; D018995:Myosin Heavy Chains