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| Item Type: | Article |
|---|---|
| Title: | Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers |
| Creators: |
van Rijsingen, I.A.W., Nannenberg, E.A., Arbustini, E., Elliott, P.M., Mogensen, J., Hermans-van Ast, J.F., van der Kooi, A.J., van Tintelen, J.P., van den Berg, M.P., Grasso, M., Serio, A., Jenkins, S., Rowland, C., Richard, P., Wilde, A.A.M., Perrot, A.  ORCID: https://orcid.org/0000-0002-8800-342X, Pankuweit, S., Zwinderman, A.H., Charron, P., Christiaans, I. and Pinto, Y.M.
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| Abstract: | AIMS: 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. METHODS AND RESULTS: 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). CONCLUSIONS: 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. |
| Keywords: | Lamin A/C, Gender, Mortality, Cardiomyopathy, Penetrance |
| Source: | European Journal of Heart Failure |
| ISSN: | 1388-9842 |
| Publisher: | Wiley-Blackwell |
| Volume: | 15 |
| Number: | 4 |
| Page Range: | 376-384 |
| Date: | April 2013 |
| Official Publication: | https://doi.org/10.1093/eurjhf/hfs191 |
| PubMed: | View item in PubMed |
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