title: Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
abstract: 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.
  
  
  
  To clarify the frequency of cardiopulmonary dysfunction in this patient population, we retrospectively reviewed the respiratory and cardiac function of 43 patients with calpainopathy.
  
  
  
  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.
  
  
  
  These findings suggest that patients with calpainopathy may develop severe respiratory failure, but cardiac dysfunction is infrequent. Muscle Nerve 55: 465-469, 2017.
authors: Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8551, Japan.
authors: Madoka
authors: M
authors: Mori-Yoshimura
authors: Department of Cardiology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan.
authors: Kazuhiko
authors: K
authors: Segawa
authors: Department of Laboratory Medicine, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.|Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.|Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors: Narihiro
authors: N
authors: Minami
authors: Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8551, Japan.
authors: Yasushi
authors: Y
authors: Oya
authors: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors: Hirohumi
authors: H
authors: Komaki
authors: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors: Ikuya
authors: I
authors: Nonaka
authors: Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.|Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors: Ichizo
authors: I
authors: Nishino
authors: Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8551, Japan.
authors: Miho
authors: M
authors: Murata
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002154:Calpain / Q000235:genetics; D009202:Cardiomyopathies / Q000209:etiology*; D002648:Child; D004562:Electrocardiography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications* / Q000235:genetics; D009154:Mutation / Q000235:genetics; D012131:Respiratory Insufficiency / Q000209:etiology*; D012189:Retrospective Studies; D014797:Vital Capacity / Q000502:physiology; D055815:Young Adult
chemical_list: D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain
keywords: calpainopathy; cardiomyopathy; limb-girdle muscular dystrophy 2A (LGMD2A); respiratory failure; respiratory function