arrhythmogenic right ventricular cardiomyopathy
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
18 Years to 64 Years
Inclusion criteria
Inclusion criteria: In order to be eligible to participate in this study, a subject must meet all of the following criteria: Affected ACM patients: - Carrier of a (likely) pathogenic PKP2 variant (i.e. class 4 or 5 variant as per American College of Medical Genetics guidelines). - Fulfillment of definite ACM diagnosis as per 2010 Task Force Criteria. - Written informed consent. Preclinical ACM mutation carriers: - Carrier of a (likely) pathogenic PKP2 variant (i.e. class 4 or 5 variant as per American College of Medical Genetics guidelines). - No fulfillment of definite ACM diagnosis as per 2010 Task Force Criteria. - Written informed consent. Healthy controls: - No prior history of cardiac complaints. - Normal echocardiogram. - Normal ECG. - Written informed consent.
Exclusion criteria
Exclusion criteria: A potential subject who meets any of the following criteria will be excluded from participation in this study: Affected and preclinical ACM mutation carriers: - Not carrying a (likely) pathogenic PKP2 variant (i.e. class 4 or 5 variant as per American College of Medical Genetics guidelines). - Prior life-threatening arrhythmia during exercise (including sudden cardiac arrest, ventricular fibrillation, sustained ventricular tachycardia, appropriate implantable cardioverter-defibrillator intervention) - Unwilling or unable to provide written informed consent Healthy controls: - Prior history of cardiac complaints - Abnormal echocardiogram - Abnormal ECG - Unwilling or unable to provide written informed consent
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| There will be two main study parameters: 1) blood metabolite/biomarker levels (e.g. fatty acids, ketones, troponin and nt-proBNP); and 2) echocardiographic parameters (e.g. right ventricular dimension/function and systolic right ventricular pressure, as well as deformation patterns). As a primary analysis, the main study parameters will be univariably compared between affected ACM patients and controls. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary study parameters include the occurrence of VA during the exercise test (defined as (non-) sustained ventricular tachycardia, ventricular fibrillation, or appropriate intervention from an implantable cardioverter-defibrillator). As a secondary analysis, the main study parameters will be compared between preclinical ACM mutation carriers and controls, and the main study parameters will be associated with the occurrence of VAs. | — |
Countries
Netherlands
Outcome results
None listed