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Natural history of dilated cardiomyopathy due to lamin A/C gene mutations

Matthew R G Taylor1, Pamela R Fain, Gianfranco Sinagra

  • 1University of Colorado Cardiovascular Institute, Denver, Colorado 80010, USA.

Journal of the American College of Cardiology
|March 12, 2003
PubMed

Insights

Lamin A/C gene (LMNA) mutations are found in 8% of dilated cardiomyopathy (DCM) patients, causing severe disease and poorer survival. Screening is recommended, especially with clinical predictors.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Mutations in the lamin A/C gene (LMNA) are associated with dilated cardiomyopathy (DCM), but their clinical spectrum, prognosis, and relevance remain unclear.
  • Previous studies have linked LMNA mutations to DCM with familial conduction defects and muscular dystrophy.

Purpose of the Study:

  • To investigate the prevalence, genotype-phenotype correlations, and natural history of LMNA mutations in individuals with DCM.
  • To determine the clinical significance of laminopathies in DCM patients.

Main Methods:

  • Screening of 49 nuclear families (40 familial DCM, 9 sporadic DCM; 269 subjects, 105 affected) for LMNA mutations using denaturing high-performance liquid chromatography and sequence analysis.
  • Bivariate analysis to identify predictors of LMNA mutation carrier status.
  • Kaplan-Meier survival analysis to compare outcomes between LMNA mutation carriers and non-carriers.

Main Results:

  • LMNA mutations were identified in 8% of families (4/49), including three familial and one sporadic DCM case.
  • Phenotypic variability was observed, with skeletal muscle involvement, supraventricular arrhythmia, conduction defects, and milder DCM phenotypes predicting LMNA mutations.
  • LMNA mutation carriers exhibited significantly poorer cumulative survival, with event-free survival at age 45 being 31% compared to 75% in non-carriers.

Conclusions:

  • LMNA mutations are a significant cause of severe, progressive DCM in a notable proportion of patients.
  • Genetic screening for LMNA mutations is advisable for DCM patients, particularly those presenting with specific clinical predictors, irrespective of family history.
Abstract

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