Key result
Dystrophin gene deletions linked to DCM without muscle weakness.
Case Report (n=2)
Some patients with idiopathic dilated cardiomyopathy without muscle weakness may have an underlying dystrophinopathy that can be diagnosed using biochemical and genetic analyses.
May warrant dystrophin gene testing in select idiopathic dilated cardiomyopathy cases without weakness; leaves open broader screening pending larger studies.
Two new cases of dilated cardiomyopathy (DC) caused by dystrophinopathy are reported. One patient, a 24 year old man, had a family history of X linked DC, while the other, a 52 year old man, had sporadic disease. Each had abnormal dystrophin immunostaining in muscle or cardiac biopsy specimens, but neither had muscle weakness. Serum creatine kinase activity was raised only in the patient with familial disease. Analysis of dystrophin gene mutations showed a deletion of exons 48-49 in the patient with familial DC and of exons 49-51 in the other. Dystrophin transcription in cardiac tissue from the patient with sporadic disease showed abundant expression, predominantly of the muscle isoform. This study, together with previous reports, suggests that some patients with DC have a dystrophinopathy that can be diagnosed using a combination of biochemical and genetic analyses.
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Muntoni et al. (1997) conducted a case report in Dilated cardiomyopathy (n=2). Dystrophin gene abnormalities was evaluated on Dystrophin gene mutations and immunostaining. Dystrophin gene abnormalities (deletions in exons 48-51) were identified in two men with dilated cardiomyopathy without muscle weakness.
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