The cardiomyopathy of Duchenne/Becker consultands

Int J Cardiol. 1992 Mar;34(3):297-305. doi: 10.1016/0167-5273(92)90028-2.

Abstract

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%.

MeSH terms

  • Adolescent
  • Adult
  • Cardiomyopathies / diagnostic imaging
  • Cardiomyopathies / genetics*
  • Cardiomyopathy, Hypertrophic / genetics
  • Child
  • Child, Preschool
  • Echocardiography
  • Electrocardiography
  • Female
  • Humans
  • Middle Aged
  • Muscular Dystrophies / genetics*