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.

日本語要旨:

LGMD2A(カルパイノパチー)患者の心機能、呼吸機能について後方指摘に調査した。43人のLGMD2A患者のうち、9人で努力性肺活量(FVC)が80%以下であり、3人が非侵襲的用圧呼吸器を使用していた。その一方で、心臓の合併症は1人でQRS波異常が、1人でエコー上軽度の左心機能低下が認められた。LGMD2Aは重度の呼吸障害をきたすが、心機能障害は稀であるといえる。