Key result
A 24-year-old man initially suspected of having Becker's muscular dystrophy was diagnosed with limb-girdle muscular dystrophy 2M after presenting with severe dilated cardiomyopathy.
Case Report (n=1)
Muscular dystrophy patients can develop severe cardiac failure irrespective of the severity of skeletal muscle involvement, highlighting the necessity of regular cardiopulmonary function examinations.
Severe DCM may occur in LGMD2M irrespective of skeletal involvement; hypothesis-generating for routine cardiac screening in muscular dystrophies.
We report a 24-year-old Japanese man initially suspected to have Becker's muscular dystrophy at the age of 6 years, because of a high level of creatine kinase in serum, though he discontinued visiting the hospital. At the age of 23, he was admitted to the hospital for severe dilated cardiomyopathy, and subsequently diagnosed with limb-girdle muscular dystrophy2M (LGMD2M) based on muscle biopsy and gene analysis. It was recently reported that some patients with fukutinopathy develop LGMD. Most of the cases reported in Japan showed mild skeletal muscle involvement despite serious cardiomyopathy, which may sometimes the initial symptom of the disease. Since muscular dystrophy patients can develop severe cardiac failure, irrespective of the severity of skeletal muscle involvement, regular examinations of cardiopulmonary function are necessary.
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Matsui et al. (2015) conducted a case report in Limb-girdle muscular dystrophy 2M and dilated cardiomyopathy (n=1). A 24-year-old man initially suspected of having Becker's muscular dystrophy was diagnosed with limb-girdle muscular dystrophy 2M after presenting with severe dilated cardiomyopathy.
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