The cardiomyopathy of Duchenne/Becker consultands.
Clinical, electrocardiographic, echocardiographic and other instrumental examinations were performed on 233 persons primarily seeking genetic advice about the Duchenne/Becker gene in order to reveal the incidence of dystrophic cardiomyopathy in a population of females with a close relationship with patients suffering from Duchenne or Becker muscular dystrophy. Among these consultands, 210 were Duchenne and 23 Becker. Eight five (40.4%) Duchenne and 8 (34.8%) Becker consultands showed a normal cardiac status; 35 (16.6%) Duchenne and 6 (26.1%) Becker had clinically evident cardiomyopathy; 90 (43%) Duchenne and 9 (39.1%) Becker showed minor signs of myocardial involvement. The link between myocardial involvement and the Duchenne/Becker carrier condition was demonstrated through the observation that the percentage of cases showing pre-clinical or clinically evident cardiomyopathy was higher in the consultands with pathological values of serum creatine kinase activity (obligatory carriers) and/or an estimated genetic risk higher than 70% than in the consultands showing a normal value of serum creatine kinase activity (less than 80 U/l) and/or a genetic risk lower than 70%.
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Flaviano Magrassi Department of Clinical and Experimental Medicine, Naples University, Italy.
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Politano
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Petretta
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D000293:Adolescent; D000328:Adult; D009202:Cardiomyopathies / Q000000981:diagnostic imaging / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D006801:Humans; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000235:genetics*