Summary

Muscle Nerve. 2016 Mar;53(3):394-401. doi: 10.1002/mus.24741. Epub 2016 Jan 27.

Respiratory and cardiac function in japanese patients with dysferlinopathy.

Abstract:

INTRODUCTION: We retrospectively reviewed respiratory and cardiac function in patients with dysferlinopathy, including 2 autopsy cases with respiratory dysfunction.
METHODS: Subjects included 48 patients who underwent respiratory evaluation (n = 47), electrocardiography (n = 46), and echocardiography (n = 23).
RESULTS: Of the 47 patients, 10 had reduced percent forced vital capacity (%FVC), and 4 required non-invasive positive pressure ventilation. %FVC was significantly correlated with disease duration, and mean %FVC was significantly lower in non-ambulatory patients, as well as in those aged ≥65 years with normal creatine kinase levels. On electrocardiography, QRS complex duration was prolonged in 19 patients, although no significant association with age, disease duration, or respiratory function was found. Echocardiography indicated no left ventricular dysfunction in any patient. Histopathology of autopsied cases revealed mild cardiomyopathy and moderate diaphragm involvement.
CONCLUSION: Patients with dysferlinopathy may develop severe respiratory failure and latent cardiac dysfunction. Both respiratory and cardiac function should be monitored diligently.

日本語要旨:

日本人dysferlinopathy患者の心肺機能について、剖検2例を含めた48例で後方視的に検討を行った。呼吸機能検査では47例中19例で%FVCが低下しており、そのうち4例では非侵襲的陽圧換気療法を必要としていた。%FVCは罹病期間と有意な負の相関を示した。また、平均%FVCは、65歳以上の高齢者、歩行不能例、血清CK正常例で有意に低下した。心電図では、46例中19例でQRS幅が延長していたが、QRS幅と年齢、罹病期間、呼吸機能との有意な相関は認めなかった。心臓超音波では、23例中、左室機能低下を呈した例はなかった。剖検例では、軽度の心筋症と中等度の横隔膜障害を認めた。以上より、dysferlinopathy患者では、重篤な呼吸機能障害と潜在的な心筋障害を合併する可能性があり、心肺機能の定期的な評価が必要であると考えられる。

PMID:  26088049

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