Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy

• Published in: Heart (British Cardiac Society) Vol. 78; no. 6; pp. 608 - 612
• Main Authors: Muntoni, Francesco, Di Lenarda, Andrea, Porcu, Maurizio, Sinagra, Gianfranco, Mateddu, Anna, Marrosu, Gianni, Ferlini, Alessandra, Cau, Milena, Milasin, Jelena, Melis, Maria Antonietta, Marrosu, Maria Giovanna, Cianchetti, Carlo, Sanna, Antonio, Falaschi, Arturo, Camerini, Fulvio, Giacca, Mauro, Mestroni, Luisa
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and British Cardiovascular Society 01.12.1997; BMJ; BMJ Publishing Group LTD
• Subjects: Adult; Becker muscular dystrophy; Biological and medical sciences; Cardiology. Vascular system; Cardiomyopathy, Dilated - genetics; Cardiomyopathy, Dilated - metabolism; Case Studies; dilated cardiomyopathy; dystrophin; Dystrophin - analysis; Dystrophin - genetics; Family medical history; Gene Deletion; Genetic Linkage; Heart; Heart attacks; Humans; Immunohistochemistry; Male; Medical sciences; Middle Aged; Muscle, Skeletal - chemistry; Mutation; Myocarditis. Cardiomyopathies; Myocardium - chemistry; Pedigree; Polymerase Chain Reaction; Rodents; X Chromosome; Human; Sex linked character; Neuromuscular diseases; Nervous system diseases; Idiopathic; Cardiovascular disease; Myocardial disease; Genetic determinism; Muscular dystrophy; Genetic disease; Case study; Phenotype; Congestive hypertrophic cardiomyopathy; Gene; Heart disease; X-Chromosome; Diagnosis; Mutation; Dystrophin
• ISSN: 1355-6037; 1468-201X
• DOI: 10.1136/hrt.78.6.608

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.