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.
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Abbreviations
- DCM :
-
Dilated cardiomyopathy
- ECG :
-
Electrocardiography
- EDMD :
-
Emery-Dreifuss muscular dystrophy
- ICD :
-
Implantable cardioverter-defibrillator
- LGMD :
-
Limb girdle muscular dystrophy
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Acknowledgements
We are indebted to the support of the InterCardiology Institute Netherlands (ICIN) Working Group 27 on Hereditary Cardiac Diseases. This work was supported in part by grant number 2000.130 from The Netherlands Heart Foundation to Y.M.P. and grant number 2002.016 to J.H.v.B.
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van Berlo, J.H., de Voogt, W.G., van der Kooi, A.J. et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?. J Mol Med 83, 79–83 (2005). https://doi.org/10.1007/s00109-004-0589-1
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DOI: https://doi.org/10.1007/s00109-004-0589-1