Research on rare genetic cardiomyopathies

The Department of Special Pathology Anatomy and the Department of Thoracic and Vascular Cardiological Sciences, University of Padua , Italy. with Resp. Scientific Prof. Gaetano Thiene Former Director of the Complex Operative Unit Cardiovascular Pathology, Padua Hospital Company is the international reference center for research on rare genetic cardiomyopathies and has the following research orientations:


Prevention of sudden athlete death (new guidelines)


Prevention of cardiac arrest by drug and interventional therapy (risk stratification)


Role of physical exertion in the onset and progression of cardiomyopathies at risk of sudden death


Role of innervation in heart disease at risk of sudden death


Transgenic animal-mouse, zebrafish, and cellular models for studying the pathogenesis of arrhythmogenic cardiomyopathy to move from purely symptomatic to curative therapy (drugs to prevent or delay the onset and evolution of the disease)


Search for new disease genes and/or modifiers given the marked genetic heterogeneity and variable penetrance


Testing the feasibility of broad-spectrum genetic screening of the population or certain groups most at risk (see athletes)


Genotype-phenotype correlation with the advent of next-generation sequencing and deletion analysis (MLPA) methods


Research both basic on transgenic animal and cellular models, MiRNAs, and clinical with classical translational approach to find new non-invasive means for early pre-symptomatic diagnosis with imaging tools, new markers, MiRNAs, etc.

The Human Molecular Genetics Laboratory of the Department of Biology, University of Padua, with Resp. Scientific Prof. Alessandra Rampazzo, which has been involved in the molecular genetic studies of inherited cardiomyopathies for more than 25 years, has the following research orientations:


Identify the mechanisms at the cellular level that lead to the manifestation of alterations in the hearts of individuals with hereditary cardiomyopathies


Identify new genes involved in inherited cardiomyopathies, since only in a limited percentage of patients can a causative mutation be identified, by sequencing whole genomes or the coding sequences of all genes (exome)


To determine whether a variation in the sequence of a gene involved in arrhythmogenic cardiomyopathy identified in a patient is a disease-causing mutation by studies in cardiac cell cultures.

Each year the center follows more than 1,800 patients (including probands and family members) with arrhythmic cardiomyopathies, both structural and non-structural, and is in close collaboration with internationally recognized research centers such as:

Barry Maron, Heart Center Minneapolis, MN

Martin Maron, Tufts Medical Center, Boston, MA

Artur Wilde-Connie Bezzina-Peter van Tintelen AMC, Amsterdam, NL

Jeffrey Saffitz-Angeliki Asimaki, Boston, MA; Frank Marcus, Tucson, Arizona

Sanjay Sharma, Elija Behr, St George Hospital-CRY, London, UK