Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

Ingrid A W van Rijsingen, Eline A. Nannenberg, Eloisa Arbustini, Perry M. Elliott, Jens Mogensen, Johanna F. Hermans-van Ast, Anneke J. van der Kooi, J. Peter van Tintelen, Maarten P. van den Berg, Maurizia Grasso, Alessandra Serio, Sharon Jenkins, Camilla Rowland, Pascale Richard, Arthur A M Wilde, Andreas Perrot, Sabine Pankuweit, Aeilko H. Zwinderman, Philippe Charron, Imke ChristiaansYigal M. Pinto

Research output: Contribution to journalArticlepeer-review


Mutations in the lamin A/C gene (LMNA) cause a variety of clinical phenotypes, including dilated cardiomyopathy. LMNA is one of the most prevalent mutated genes in dilated cardiomyopathy, and is associated with a high risk of arrhythmias, sudden cardiac death, and heart failure. There are few data on the impact of age and gender on cardiac disease penetrance and mortality. In a multicentre cohort of 269 LMNA mutation carriers, we evaluated gender-specific penetrance of cardiac involvement and major cardiac events. All-cause mortality of mutation carriers [standardized mortality ratio (SMR)] was determined. Cardiac disease penetrance was age dependent and almost complete at the age of 70 years. The presence of an LVEF ≤45% was significantly higher in men (P <0.001). However, there was no difference between genders in the prevalence of atrioventricular block, atrial tachyarrhythmias, and non-sustained ventricular tachycardia. Malignant ventricular arrhythmias (26% vs. 8%) and end-stage heart failure (28% vs. 14%) were more common in men than in women (P <0.001 and P = 0.006, respectively). All-cause mortality of mutation carriers was significantly increased [SMR 4.0, 95% confidence interval (CI) 2.8-5.2] between the ages of 15 and 75 years. Mortality in men was higher than in women (hazard ratio 2.2, 95% CI 1.2-4.3). This large cohort of LMNA mutation carriers demonstrates a high cardiac disease penetrance and a high mortality in mutation carriers. Male mutation carriers have a worse prognosis due to a higher prevalence of malignant ventricular arrhythmias and end-stage heart failure.

Original languageEnglish
Pages (from-to)376-384
Number of pages9
JournalEuropean Journal of Heart Failure
Issue number4
Publication statusPublished - Apr 2013

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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