Cardiac involvement in patients with lamin A/C gene mutations: a cohort observation

Muscle Nerve. 2012 Aug;46(2):187-92. doi: 10.1002/mus.23294.

Abstract

Introduction: LMNA gene mutations are associated with cardiac and skeletal muscle alterations.

Methods: A cohort of 21 mutated individuals was assessed with clinical and instrumental investigations over the years.

Results: The median observation period was 6 years. Cardiac compromise was detected in 16 patients. Bradyarrhythmias were the most frequent manifestations, followed by supraventricular arrhythmias. Two individuals suffered from nonsustained and 1 from sustained ventricular tachyarrhythmias. Dilated cardiomyopathy was detected in 3 patients. Evaluation of the frequencies of the clinical expressions showed a high probability of suffering from analogue heart compromise in study subjects bearing the same LMNA gene mutation.

Conclusions: Cardiac involvement represents a very common phenotypic expression of LMNA gene mutation. Subjects sharing common genetic background seem to suffer from analogue pattern of cardiac manifestation.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Arrhythmias, Cardiac / genetics*
  • Cardiomyopathy, Dilated / genetics*
  • Cohort Studies
  • Female
  • Humans
  • Lamin Type A / genetics*
  • Male
  • Middle Aged
  • Mutation*

Substances

  • LMNA protein, human
  • Lamin Type A