• Internal medicine · Jul 2023

    Case Reports

    Drug-refractory Heart Failure in Female Carrier of Duchenne Muscular Dystrophy: A Case of X-linked Dilated Cardiomyopathy.

    • Hayato Ohtani, Masao Saotome, Atsushi Sakamoto, Kenichiro Suwa, and Yuichiro Maekawa.
    • Department of Cardiology, Internal Medicine 3, Hamamatsu University School of Medicine, Japan.
    • Intern. Med. 2023 Jul 15; 62 (14): 208920922089-2092.

    AbstractA 56-year-old woman was referred to our hospital for the further evaluation of drug-refractory heart failure with a reduced ejection fraction. A family history interview revealed that men in her family had died of Duchenne muscular dystrophy (DMD), whereas she had no skeletal muscle disorder. Myocardial histopathology revealed a reduced dystrophin expression in the cardiomyocyte membrane, and a dystrophin (DMD) gene analysis identified a duplication in exon 8-9 on Xp21, suggesting that she had a cardiac-specific phenotype of dystrophinopathy, i.e. X-linked dilated cardiomyopathy (XLDCM). In conclusion, careful family history interviews and an investigation of dystrophinopathy are required to detect XLDCM in women.

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