Risk Stratification in Children and Adolescents With Primary Cardiomyopathy

Study Overview
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Brief Summary
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RIKADA is a prospective study performing systematic family screening including clinical and genetic testing in pediatric patients with primary cardiomyopathy and their first-degree relatives with the aim to facilitate risk stratification.

Detailed Description
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RIKADA is a long-term prospective study performing in-depth phenotype and genotype characterization in children and adolescents with primary cardiomyopathy and their first-degree family members. Family screening contains complete cardiac work-up with medical history, physical examination, 12-lead-/Holter-electrocardiogram, cardiopulmonary exercise testing, echocardiography, cardiovascular magnetic resonance (CMR) and laboratory including genetic testing. The aim is to facilitate early identification of at-risk individuals and contribute to patient-specific follow-up and therapy regimes preventing progressive heart failure and arrhythmia in pediatric CMP.

Official Title
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Risk Stratification in Children and Adolescents With Primary Cardiomyopathy

Conditions
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Primary Cardiomyopathy, Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Left Ventricular Noncompaction, Restrictive Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Index patients: Age ≤18 years written informed consent of parents/legal guardians diagnosis of primary cardiomypathy: DCM: left ventricular (LV) systolic dysfunction and dilatation greater than two standard deviations (SD) above the mean of a normal population HCM: LV hypertrophy and septal wall thickness above two SD RCM: diastolic dysfunction and concordant atrial enlargement LVNC: separation of the myocardium into a compacted (C) and a non- compacted (NC) layer with an NC/C ratio >2 in echocardiography and/or >2.3 in CMR ARVC: according to the revised Task Force Criteria First-degree family members (parents and siblings): Age ≥3 years written informed consent of parents/legal guardians and siblings ≥18 years Exclusion Criteria: unwillingness to give consent myocardial inflammation / myocarditis systemic disease with cardiac involvement (secondary cardiomyopathy) structural congenital heart disease

Ages Eligible for Study
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Maximum Age: 18 Years

Sexes Eligible for Study
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All

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Index patients<br>Patients ≤18 years with primary cardiomyopathy | |
| First-degree family members<br>Parents and siblings of index patients | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| major cardiovascular events | death, need for mechanical circulatory support or heart transplantation | from date of enrollment until the date of death, mechanical circulatory support or heart transplantation, assessed up to 8 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Pediatrics, Cardiomyopathy, Heart failure, Risk stratification, Family screening, Genetics