Cardiopulmonary dysfunction in patients with limb‐girdle muscular dystrophy 2A |
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| Authors: | Madoka Mori‐Yoshimura MD PhD Kazuhiko Segawa MD PhD Narihiro Minami PhD Yasushi Oya MD Hirohumi Komaki MD PhD Ikuya Nonaka MD PhD Ichizo Nishino MD PhD Miho Murata MD PhD |
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| Affiliation: | 1. Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan;2. Department of Cardiology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan;3. Department of Laboratory Medicine, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan;4. Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan;5. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan;6. Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan |
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| Abstract: | Introduction: Little is known about the frequency of cardiopulmonary failure in limb‐girdle muscular dystrophy type 2A (calpainopathy) patients, although some studies have reported severe cardiomyopathy or respiratory failure. Methods: To clarify the frequency of cardiopulmonary dysfunction in this patient population, we retrospectively reviewed the respiratory and cardiac function of 43 patients with calpainopathy. Results: Nine of the 43 patients had forced vital capacity (FVC) < 80%, and 3 used noninvasive positive pressure ventilation. Mean FVC was significantly lower in patients who were nonambulant and had normal creatine kinase levels. Only 1 patient had a prolonged QRS complex duration. Echocardiography revealed that 1 patient had very mild left ventricular dysfunction. Conclusions: These findings suggest that patients with calpainopathy may develop severe respiratory failure, but cardiac dysfunction is infrequent. Muscle Nerve 55 : 465–469, 2017 |
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| Keywords: | calpainopathy cardiomyopathy limb‐girdle muscular dystrophy 2A (LGMD2A) respiratory failure respiratory function |
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