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

WG de Voogt, AJ van der Kooi, JP van Tintelen, G Bonne, R Ben Yaou, D Duboc, T Rossenbacker, H Heidbuchel, M de Visser, HJGM Crijns, YM Pinto*, Jop H. van Berlo

*Bijbehorende auteur voor dit werk

Onderzoeksoutput: ArticleAcademicpeer review

355 Citaten (Scopus)


This study evaluated common clinical characteristics of patients with lamin A/C gene mutations that cause either isolated dilated cardiornyopathy 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.

Originele taal-2English
Pagina's (van-tot)79-83
Aantal pagina's5
TijdschriftJournal of Molecular Medicine
Nummer van het tijdschrift1
StatusPublished - jan.-2005

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