Volume 10 Supplement 2

Proceedings of the 1st French-Italian meeting on laminopathies and other nuclear envelope-related diseases

Open Access

Clinical aspects of cardiolaminopathies and prospects for a cardiolaminopathy registry

Orphanet Journal of Rare Diseases201510(Suppl 2):O30

https://doi.org/10.1186/1750-1172-10-S2-O30

Published: 11 November 2015

Mutations in the LMNA gene, encoding nuclear proteins lamin A/C, have been associated with neurological and cardiac disease and a high risk of sudden death. The implant of a cardioverter defibrillator (ICD) is to date the only effective intervention, but no specific guidelines are available. We decided to create a common Italian database integrating clinical and genetic data of patients bearing LMNA gene mutations to improve knowledge of natural history of cardiopathy, define a risk stratification protocol for ICD implant and investigate genotype/phenotype correlations.

To date, 113 patients (age 47±18) from 11 Italian centers have been included in our database and followed for 7±11 years. We evaluated age at onset of different phenotypes. 70% developed cardiac symptoms, including both rhythm (atrial fibrillation, atrio-ventricular block, ventricular tachycardias) and structural defects (dilated cardiomyopathy, mitral insufficiency), which may or may not be preceded by neurological signs. Cardiac magnetic resonance was pathologic in 2/3 of studied patients. We also evaluated the occurrence of ICD implantation, appropriate shocks, cardiac transplantation and heart failure. Open questions include the identification of predictors of arrhythmias to allow early diagnosis and improve risk stratification and management of asymptomatic patients.

Authors’ Affiliations

(1)
Laboratory of Clinical Molecular Biology and Cytogenetics, San Raffaele Scientific Institute

Copyright

© Benedetti 2015

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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