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Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy
  1. Francesco Muntonia,
  2. Andrea Di Lenardab,
  3. Maurizio Porcuc,
  4. Gianfranco Sinagrab,
  5. Anna Mateddud,
  6. Gianni Marrosud,
  7. Alessandra Ferlinia,
  8. Milena Caue,
  9. Jelena Milasinb,
  10. Maria Antonietta Melis,
  11. Maria Giovanna Marrosud,
  12. Carlo Cianchettid,
  13. Antonio Sannac,
  14. Arturo Falaschib,
  15. Fulvio Camerinib,
  16. Mauro Giaccab,
  17. Luisa Mestronib
  1. aNeuromuscular Unit, Department of Paediatrics and Neonatal Medicine, Hammersmith Hospital, London, UK, bInternational Centre for Genetic Engineering and Biotechnology e Divisione di Cardiologia, Ospedale e Università di Trieste, Trieste, Italy, cDivisione di Cardiologia, Ospedale Brotzu, Italy, dIstituto di Neuropsichiatria Infantile, Italy, eDipartimento di Biologia e Clinica dell’Età Evolutiva, Cagliari, Italy
  1. 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

Abstract

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.

  • dilated cardiomyopathy
  • dystrophin
  • Becker muscular dystrophy
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