Genetic Characterization of Cardiomyopathies (POLICARDIOMIO2021)
Study Details
Study Description
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.
Condition or Disease | Intervention/Treatment | Phase |
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Study Design
Arms and Interventions
Arm | Intervention/Treatment |
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Single Arm Study 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. |
Outcome Measures
Primary Outcome Measures
- Genetic Characterization [5 years]
To perform a genetic characterization of subjects affected by structural cardiomyopathies with clinical suspicion of genetic pattern
Secondary Outcome Measures
- 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.
Eligibility Criteria
Criteria
Inclusion Criteria:
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Presence of structural cardiomyopathy
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First degree relatives for cardiomyopathy
Exclusion Criteria:
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Age > 80
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Presence of sufficient conditions to explain the clinical condition of cardiomyopathy
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Peripartum cardiomyopathy
Contacts and Locations
Locations
Site | City | State | Country | Postal Code | |
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1 | Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico | Milan | Lombardia | Italy | 20122 |
Sponsors and Collaborators
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 2385