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

Autor: Sara Benedetti, Maurizio Ferrari, Simone Sala, Lorenzo Gigli, Giovanni Peretto, C. Di Resta, P. Della Bella
Přispěvatelé: Peretto, G., Sala, S., Benedetti, S., Di Resta, C., Gigli, L., Ferrari, M., Della Bella, P.
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Zdroj: Nucleus
ISSN: 1949-1042
1949-1034
Popis: 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.
Databáze: OpenAIRE
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