Genetic Characterization of Cardiomyopathies (POLICARDIOMIO2021)

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico288 enrolled

Overview

Cardiomyopathy refers to a diverse group of myocardial diseases with multiple causes. In 1995, the World Health Organization classified cardiomyopathies into hypertrophic, dilated, restrictive, and mixed type. This classification is based on the pathophysiology of the disease. However, with rapid evolution of molecular genetics in cardiology, the American Heart Association in 2006 has classified cardiomyopathies into two major groups based on predominant organ involvement and etiology; Primary cardiomyopathies are those solely or predominantly confined to heart muscle and are relatively few in number. Secondary cardiomyopathies show pathologic myocardial involvement as part of a large number and variety of generalized systemic (multiorgan) disorders.Current evidence supports the use of genetic testing in clinical practice to improve risk stratification for clinically affected patients and their at-risk relatives for cardiomyopathies.

Study Type

OBSERVATIONAL

Enrollment

288

Conditions

Cardiomyopathies

Eligibility

Sex: ALLMin age: 18 YearsMax age: 80 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Presence of structural cardiomyopathy * First degree relatives for cardiomyopathy Exclusion Criteria: * Age \> 80 * Presence of sufficient conditions to explain the clinical condition of cardiomyopathy * Peripartum cardiomyopathy

Locations (1)

Outcomes

Primary Outcomes

Genetic Characterization

To perform a genetic characterization of subjects affected by structural cardiomyopathies with clinical suspicion of genetic pattern

Time frame: 5 years

Secondary Outcomes

Genetic and phenotypic characterization of the first degree relatives

To perform a genetic and phenotypic characterization of the first degree relatives of a subject affected by genetic structural cardiomyopathy.