The goal of this study is to describe the natural history and clinical events for patients who have Arrhythmogenic Cardiomyopathy with Pathogenic Plakophilin-2 Variants (PKP2-ACM) managed with standard of care.
This is an observational study with both retrospective and prospective data collection. The study is designed to describe the natural history of PKP2-ACM including the signs and symptoms, key clinical events, and impact of the disease on quality of life. A hybrid (retrospective and prospective data collection) approach is being taken with the aim of achieving robust and longitudinal data generation.
Study Type
OBSERVATIONAL
Enrollment
36
Boston Children's Hospital
Boston, Massachusetts, United States
NOT_YET_RECRUITINGDuke University
Durham, North Carolina, United States
RECRUITINGAmsterdam UMC
Amsterdam, Netherlands
NOT_YET_RECRUITINGHeart rhythm and rate monitoring measures
Evaluate electrophysiology as assessed by heart rate and rhythm
Time frame: 36 months
Cardiac biomarkers
Evaluate heart health as assessed by cardiac biomarkers
Time frame: 36 months
Characterize cardiovascular events
Evaluate cardiovascular health as assessed by the occurrence of clinical outcomes related to the cardiovascular system
Time frame: 36 months
Evaluate patient reported outcomes and quality of life measures
Evaluate patient reported outcomes and quality of life measures through questionnaires.
Time frame: 36 months
Interrogate ICDs
Evaluate heart health as assessed by interrogation of implanted cardioverter defibrillator
Time frame: 36 months
Evaluate changes in health status
Evaluate changes in health status as assessed by occurrence of clinical outcomes
Time frame: 36 months
Cardiac Structure and Performance
Evaluating heart changes through measures of cardiac structure and performance with echocardiogram.
Time frame: 36 months
Evaluate genetics
Assess association with cardiomyopathy as assessed by genetic testing.
Time frame: Cross sectional
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