Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: Do lamin A/C mutations portend a high risk of sudden death?

Jop H. Van Berlo, Willem G. De Voogt, Anneke J. Van Der Kooi, J. Peter Van Tintelen, Gisèle Bonne, Rabah Ben Yaou, Denis Duboc, Tom Rossenbacker, Hein Heidbüchel, Marianne De Visser, Harry J.G.M. Crijns, Yigal M. Pinto

Research output: Contribution to journalReview articlepeer-review

299 Scopus citations

Abstract

This study evaluated common clinical characteristics of patients with lamin A/C gene mutations that cause either isolated dilated cardiomyopathy or dilated cardiomyopathy in association with skeletal muscular dystrophy. We pooled clinical data of all published carriers of lamin A/C gene mutations as cause of skeletal and/or cardiac muscle disease and reviewed ECG findings. Cardiac dysrhythmias were reported in 92% of patients after the age of 30 years; heart failure was reported in 64% after the age of 50. Sudden death was the most frequently reported mode of death (46%) in both the cardiac and the neuromuscular phenotype. Carriers of lamin A/C gene mutations often received a pacemaker (28%). However, this intervention did not alter the rate of sudden death. Review of the ECG findings typically showed a low amplitude P wave and prolongation of the PR interval with a narrow QRS complex. This meta-analysis suggests that cardiomyopathy due to lamin A/C gene mutations portends a high risk of sudden death, and that this risk does not differ between subjects with predominantly cardiac or neuromuscular disease. This implies then that all carriers of a lamin A/C gene mutation need to be carefully screened with particular emphasis also on tachyarrhythmias. Prospective studies are needed to evaluate risk stratification and proper treatment strategies.

Original languageEnglish (US)
Pages (from-to)79-83
Number of pages5
JournalJournal of Molecular Medicine
Volume83
Issue number1
DOIs
StatePublished - Jan 1 2005

Keywords

  • Cardiomyopathy
  • Genetics
  • Skeletal muscles
  • Sudden death

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