Combined cardiomyopathy and skeletal myopathy: a variant with atrial fibrillation and ventricular tachycardia.
This article describes a family characterized by combined cardiomyopathy and nonspecific skeletal myopathy who present in the third to fifth decades with cardiac manifestations but earlier have evidence of subtle skeletal muscle dysfunction. They differ from previously defined syndromes and potentially represent a different genetic expression or mutation. Cardiomyopathy presents with atrial arrhythmias including AF and atrial flutter. Life-threatening ventricular tachyarrhythmias occur next with onset of ventricular dysfunction. Electrophysiological study revealed sustained monomorphic VT. Affected family members benefitted from an ICD and progression to congestive heart failure (CHF) occurred late. Skeletal myopathy continues with marked progressive muscle weakness and inability to ambulate without assistance. Genetic analysis is currently ongoing. Neurological evaluation in all three family members revealed nonspecific myopathy affecting the psoas and iliopsoas muscles. Atrophy and wasting of the facial and temporalis muscles were common. Skeletal muscle biopsy revealed myofiber atrophy consistent with myopathy.
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Stony Brook Arrhythmia Study and Sudden Death Prevention Center, Division of Cardiology, Department of Medicine, Department of Neurology, SUNY Health Sciences Center, Stony Brook, New York, USA. svlay@ts.uh.sunysb.edu
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Coyle
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D001281:Atrial Fibrillation / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D001706:Biopsy; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009206:Myocardium / Q000473:pathology; D010375:Pedigree; D017180:Tachycardia, Ventricular / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology