title: Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation.
abstract: Myosin-heavy-chain 7 (MYH7)-myopathy manifests clinically with a distal, scapuloperoneal, limb-girdle (proximal), or axial distribution and may involve the respiratory muscles. Cardiac involvement is frequent, ranging from relaxation impairment to severe dilative cardiomyopathy. Progression and earlier onset of cardiac disease in successive generations with MYH7-myopathy is unreported. In a five-generation family MYH7-myopathy due to the novel c.5566G > A (p.E1856K) mutation manifested with late-onset, distal > proximal myopathy and variable degree of cardiac involvement. The index patient developed distal myopathy since age 49 y and anginal chest pain. Her mother had distal myopathy and impaired myocardial relaxation. The daughter of the index patient had discrete myopathy but left ventricular hypertrabeculation/noncompaction and ventricular arrhythmias requiring an implantable cardioverter defibrillator. The granddaughter of the index patient had infantile dilated cardiomyopathy without overt myopathy. Cardiac involvement may be present in MYH7-myopathy and may be progressive between the generations, ranging from relaxation abnormality to noncompaction, ventricular arrhythmias, and dilated cardiomyopathy.
authors: Krankenanstalt Rudolfstiftung, Vienna, Austria. Electronic address: fifigs1@yahoo.de.
authors: Josef
authors: J
authors: Finsterer
authors: Institute of Medical Genetics, Medical University of Vienna, Währinger Strasse 10, 1090 Vienna, Austria.
authors: Oliver
authors: O
authors: Brandau
authors: 2nd Medical Department with Cardiology and Intensive Care Medicine Krankenanstalt Rudolfstiftung, Vienna, Austria.
authors: Claudia
authors: C
authors: Stöllberger
authors: Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia 6009, Australia.
authors: William
authors: W
authors: Wallefeld
authors: Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia 6009, Australia.
authors: Nigel G
authors: NG
authors: Laing
authors: Institute of Medical Genetics, Medical University of Vienna, Währinger Strasse 10, 1090 Vienna, Austria.
authors: Franco
authors: F
authors: Laccone
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D024722:Cardiac Myosins / Q000235:genetics*; D002637:Chest Pain / Q000235:genetics / Q000503:physiopathology; D002675:Child, Preschool; D005190:Family; D005260:Female; D006321:Heart / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics* / Q000503:physiopathology*; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains
keywords: Arrhythmias; Cardiac involvement; Cardiomyopathy; Genetics; Myopathy; Myosin heavy chain; Neuromuscular; Noncompaction; Skeletal muscle