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Respiratory and cardiac function in japanese patients with dysferlinopathy
Author(s) -
Nishikawa Atsuko,
MoriYoshimura Madoka,
Segawa Kazuhiko,
Hayashi Yukiko K.,
Takahashi Toshiaki,
Saito Yuko,
aka Ikuya,
Krahn Martin,
Levy Nicolas,
Shimizu Jun,
Mitsui Jun,
Kimura En,
Goto Jun,
Yonemoto Naohiro,
Aoki Masashi,
Nishino Ichizo,
Oya Yasushi,
Murata Miho
Publication year - 2016
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24741
Subject(s) - medicine , cardiology , cardiomyopathy , electrocardiography , respiratory failure , respiratory system , cardiac function curve , pulmonary function testing , heart failure
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. Muscle Nerve 53: 394–401, 2016