Updated clinical overview on cardiac laminopathies: an electrical and mechanical disease

G Peretto, S Sala, S Benedetti, C Di Resta, Lorenzo Gigli, M Ferrari, P Della Bella

Research output: Contribution to journalArticle

Abstract

Cardiac laminopathies, associated with mutations in the LMNA gene, encompass a wide spectrum of clinical manifestations, involving electrical and mechanical alterations of cardiomyocytes. Thus, dilated cardiomyopathy, bradyarrhythmias and atrial or ventricular tachyarrhythmias may occur in a number of combined phenotypes. Nowadays, some attempt has been made to identify clinical predictors for the most life-threatening complications of LMNA-associated heart disease, i.e. sudden cardiac death and end-stage heart failure. The goal of this manuscript is to combine the most recent evidences in an updated review to show the state-of-the-art of such a complex disease group. This is supposed to be the starting point to collect more data and design new ad hoc studies to identify clinically useful predictors to stratify risk in mutation carriers, including probands and their asymptomatic relatives.
Original languageEnglish
Pages (from-to)380-391
Number of pages12
JournalNucleus (Austin, Tex.)
Volume9
Issue number1
DOIs
Publication statusPublished - 2018

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