Genetic Characterization of Cardiomyopathies (POLICARDIOMIO2021)

Study Overview
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Brief Summary
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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.

Official Title
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Genetic Characterization of Cardiomyopathies (POLICARDIOMIO2021)

Conditions
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Cardiomyopathies

Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 80 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Single Arm Study<br>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. | |

What is the study measuring?
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Primary Outcome Measures

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

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | 5 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Dilated, Restrictive, Gene mutation, Cardiomyopathy, Hypertrophic, ARVD, NGS