Heart 1997;78:608-612 ( December )

Case studies

Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy Francesco Muntoni,^a Andrea Di Lenarda,^b Maurizio Porcu,^c Gianfranco Sinagra,^b Anna Mateddu,^d Gianni Marrosu,^d Alessandra Ferlini,^a Milena Cau,^e Jelena Milasin,^b Maria Antonietta Melis, Maria Giovanna Marrosu,^d Carlo Cianchetti,^d Antonio Sanna,^c Arturo Falaschi,^b Fulvio Camerini,^b Mauro Giacca,^b Luisa Mestroni^b

^a Neuromuscular Unit, Department of Paediatrics and Neonatal Medicine, Hammersmith Hospital, London, UK, ^b International Centre for Genetic Engineering and Biotechnology e Divisione di Cardiologia, Ospedale e Università di Trieste, Trieste, Italy, ^c Divisione di Cardiologia, Ospedale Brotzu, Italy, ^d Istituto di Neuropsichiatria Infantile, Italy, ^e Dipartimento di Biologia e Clinica dell'Età Evolutiva, Cagliari, Italy

Correspondence to: Dr Muntoni, Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, Du Cane Road, London W12 ONN, UK; email: fmuntoni{at}rpms.ac.uk

Accepted for publication 22 July 1997

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.

Keywords: dilated cardiomyopathy;  dystrophin;  Becker muscular dystrophy

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© 1997 by Heart
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