Cardiomyopathies are myocardial disorders in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Based on the clinical and genetic evidence, most cardiomyopathies are inherited. The American Heart Association (AHA) classification grouped cardiomyopathies into genetic, mixed, and acquired forms, and the European Society of Cardiology classification proposed subgrouping of each major type of cardiomyopathy into familial or genetic, and non-familial or non-genetic forms. In the last 20 years, the systematic family screening, contributed to better assess the familial/heritable cardiomyopathies, allowing the identification of family members who are predisposed to disease development, based on genetic testing and electrocardiographic and echocardiographic features showing early cardiac involvement. The contemporary diagnostic algorithms for work-up of cardiomyopathies are supported by advanced imaging, disease-specific biomarkers, and genetic analyses. The number of cardiomyopathies wherein the cause is identified (or identifiable) is increasing, supported by the family screening and follow up for segregation studies of genotype with phenotype. The Cardiomyopathy working group, within the Italian Cardiology Network, aims at implementing the adoption of shared clinical and genetic protocols for the precision diagnosis (phenotype and cause) of hereditary cardiomyopathies, the generation of homogeneous groups of cardiomyopathies caused by defects in the same genes, the development of clinical and laboratory research in vivo and in vitro (e.g. iPSC-CM) for unraveling disease mechanisms, with the ultimate goal of promoting R&D on new disease-specific, target treatments.
Prof. Eloisa Arbustini
Fondazione IRCCS Policlinico San Matteo
POLICLINICO SAN DONATO Massimo Lombardi – AUXOLOGICO Valeria Rella – FONDAZIONE CA’ GRANDA Margherita Calcagnino – OSPEDALE SAN RAFFAELE Eustachio Agricola – OSPEDALE PEDIATRICO BAMBINO GESU’ Rachele Adorisio – FONDAZIONE MAUGERI Andrea Mazzanti – HUMANITAS Gianluigi Condorelli – ISMETT IRCCS Eluisa La Franca – NEUROMED Speranza Rubattu – IRCCS OSPEDALE POLICLINICO SAN MARTINO Marco Canepa – ISTITUTO GIANNINA GASLINI Maria Derchi – IRCCS POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS Francesca Graziani