Genetic Characterization of Cardiomyopathies (POLICARDIOMIO2021)

Institute of Hospitalization and Scientific Care (IRCCS)

Status: Enrolling

Conditions: Cardiomyopathies

Study type: Observational

Funder types: Other

Identifiers

NCT05556369

2385

Details and patient eligibility

About

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.

Enrollment: 288 estimated patients

Sex: All

Ages: 18 to 80 years old

Volunteers: No Healthy Volunteers

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

Trial design

288 participants in 1 patient group

Single Arm Study

Description:

The study involves the execution of a genetic analysis using a panel of 54 genes conducted on blood obtained from peripheral venous sampling, the collection of clinical / instrumental / biological data in a dedicated prospective register in the form of a pseudo-anonymized database and the follow-up clinical up over time of patients. The study also provides for the execution of: a cardiological examination with electrocardiogram, Echocardiogram-color doppler and Basic blood tests: CBC, renal function, electrolytes, hepatic profile, NT-proBNP, lipid profile.