Respiratory and cardiac function in japanese patients with dysferlinopathy

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


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.

Keywords: LGMD2B; Miyoshi myopathy; autopsy; cardiac function; dysferlinopathy; respiratory function.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age Factors
  • Aged
  • Autopsy
  • Creatine Kinase / blood
  • Dysferlin
  • Electrocardiography
  • Female
  • Heart Diseases / diagnosis
  • Heart Diseases / etiology*
  • Humans
  • Japan
  • Male
  • Membrane Proteins / genetics
  • Middle Aged
  • Muscle Proteins / genetics
  • Muscular Dystrophies, Limb-Girdle / blood
  • Muscular Dystrophies, Limb-Girdle / complications*
  • Muscular Dystrophies, Limb-Girdle / genetics
  • Mutation / genetics
  • Respiration Disorders / diagnosis
  • Respiration Disorders / etiology*
  • Retrospective Studies
  • Tomography, X-Ray Computed
  • Vital Capacity
  • Young Adult


  • DYSF protein, human
  • Dysferlin
  • Membrane Proteins
  • Muscle Proteins
  • Creatine Kinase

Supplementary concepts

  • Dysferlinopathy