Focus on Energy Metabolism in Arrhythmogenic Cardiomyopathy

Recruiting

Conditions: 10028593
10083624
arrhythmogenic right ventricular cardiomyopathy
heart muscle disorder in which the heart muscle is replaced by fat and fibrosis

Registration Number: NL-OMON56014

Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 30

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

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

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>There will be two main study parameters: 1) blood metabolite/biomarker levels<br /><br>(e.g. fatty acids, ketones, troponin and nt-proBNP); and 2) echocardiographic<br /><br>parameters (e.g. right ventricular dimension/function and systolic right<br /><br>ventricular pressure, as well as deformation patterns).<br /><br><br /><br>As a primary analysis, the main study parameters will be univariably compared<br /><br>between affected ACM patients and controls. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Secondary study parameters include the occurrence of VA during the exercise<br /><br>test (defined as (non-) sustained ventricular tachycardia, ventricular<br /><br>fibrillation, or appropriate intervention from an implantable<br /><br>cardioverter-defibrillator).<br /><br><br /><br>As a secondary analysis, the main study parameters will be compared between<br /><br>preclinical ACM mutation carriers and controls, and the main study parameters<br /><br>will be associated with the occurrence of VAs.</p><br>