The Natural History of Arrhythmogenic Cardiomyopathy With Pathogenic Plakophilin-2 Variants (PKP2-ACM): An Observational Cohort Study
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.
⁃ Patients must meet all the following criteria (and none of the exclusion criteria) to be eligible for study participation:
• Male or female age 12 years or older at the time of providing informed consent (i.e., ICF provision).
• Capable and willing to provide signed informed consent and/or assent, which includes compliance with the requirements and restrictions listed in the ICF and protocol.
• Clinical diagnosis of arrhythmogenic cardio myopathy (ACM) as defined by the 2010 revised Task Force Criteria (TFC)
• Documentation of a pathogenic or likely pathogenic variant in PKP2 by a CLIA-certified genetic testing laboratory
• History of ICD implantation ≥6 months prior to ICF provision
• Left ventricular ejection fraction by echocardiogram or cardiac magnetic resonance (CMR) ≥50% at ≤12 months prior to ICF provision