Genetic Characterization of Cardiomyopathies (POLICARDIOMIO2021)

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05556369

Enrollment

288

Registered

2022-09-27

Start date

2021-09-01

Completion date

2026-09-01

Last updated

2024-04-22

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Cardiomyopathies

Keywords

Cardiomyopathy, Hypertrophic, Dilated, ARVD, Restrictive, NGS, Gene mutation

Brief summary

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to 80 Years

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

Design outcomes

Primary

Measure	Time frame	Description
Genetic Characterization	5 years	To perform a genetic characterization of subjects affected by structural cardiomyopathies with clinical suspicion of genetic pattern

Secondary

Measure	Time frame	Description
Genetic and phenotypic characterization of the first degree relatives	5 years	To perform a genetic and phenotypic characterization of the first degree relatives of a subject affected by genetic structural cardiomyopathy.

Countries

Italy

Contacts

Primary ContactStefano Carugo, Principal Investigator

stefano.carugo@policlinico.mi.it+39 0255033579

Outcome results