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The cardiomyopathy of Duchenne/Becker consultands
L I Comi1, G Nigro, L Politano
1Flaviano Magrassi Department of Clinical and Experimental Medicine, Naples University, Italy.
Insights
Duchenne and Becker muscular dystrophy carriers often show signs of heart muscle disease (cardiomyopathy). This study found a significant incidence of dystrophic cardiomyopathy in female relatives of patients with these genetic muscle disorders.
Area of Science:
- Cardiology
- Genetics
- Neuromuscular Disorders
Background:
- Duchenne and Becker muscular dystrophy are X-linked genetic disorders.
- Cardiomyopathy is a known complication in patients with these conditions.
- Carrier females may also be at risk for cardiac involvement.
Purpose of the Study:
- To determine the incidence of dystrophic cardiomyopathy in female carriers of the Duchenne/Becker gene.
- To assess cardiac status in females with close relationships to Duchenne or Becker muscular dystrophy patients.
Main Methods:
- Clinical examinations, electrocardiography, echocardiography, and instrumental tests were performed.
- 233 female consultands were evaluated for genetic advice regarding Duchenne/Becker gene.
- Serum creatine kinase activity and genetic risk were assessed.
Main Results:
- 40.4% of Duchenne and 34.8% of Becker consultands had normal cardiac status.
- 16.6% of Duchenne and 26.1% of Becker consultands exhibited clinically evident cardiomyopathy.
- 43% of Duchenne and 39.1% of Becker consultands showed minor myocardial involvement.
Conclusions:
- A significant percentage of female carriers exhibit signs of dystrophic cardiomyopathy.
- Elevated serum creatine kinase and higher genetic risk correlate with increased myocardial involvement.
- Early cardiac monitoring is crucial for female carriers of Duchenne/Becker genes.
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%.