Cardiac screening investigations in adult-onset progressive external ophthalmoplegia patients

Muscle Nerve. 2012 Oct;46(4):593-6. doi: 10.1002/mus.23538.

Abstract

Introduction: Patients with mitochondrial myopathies may develop cardiac complications such as cardiomyopathy and/or cardiac conduction defects. To identify these potentially life-threatening and treatable conditions, it is common practice to screen patients intermittently with electrocardiography and echocardiography. The optimal time interval for such screening investigations is unknown. We developed this study to review our screening results in adult-onset patients with progressive external ophthalmoplegia (PEO).

Methods: This study was a retrospective review of PEO patients with 5 years or more of cardiac screening investigations who did not have any cardiac symptoms.

Results: Fifteen patients were included, and cardiomyopathy was identified on screening echocardiogram in 1 patient. Four patients had other abnormalities identified, which were unrelated to their mitochondrial myopathy.

Conclusions: Only 1 patient in 15 developed cardiac complications related to mitochondrial disease during 5 years of follow-up. We suggest that a screening interval of 3-5 years is probably appropriate for adult-onset PEO patients who do not have cardiac symptoms.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Cardiomyopathies / diagnosis*
  • Cardiomyopathies / etiology*
  • Cardiomyopathies / genetics
  • Electrocardiography / methods*
  • Female
  • Humans
  • Male
  • Mass Screening / methods*
  • Middle Aged
  • Ophthalmoplegia, Chronic Progressive External / complications*
  • Ophthalmoplegia, Chronic Progressive External / genetics
  • Retrospective Studies