Key result
Repeat genetic testing with novel methods identifies a pathogenic PKP2 variant in gene-elusive arrhythmogenic cardiomyopathy.
Why the study?
Arrhythmogenic cardiomyopathy is largely genetic, but endurance exercise disproportionately triggers gene-elusive disease, highlighting the role of periodic genetic re-evaluation.
Does periodic genetic retesting using novel analytical methods identify pathogenic variants in patients with initially gene-elusive arrhythmogenic cardiomyopathy?
Population
One 52-year-old male endurance athlete with borderline biventricular ACM
Design
Case report
Follow-up
3 years
Authors
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Supports ACM evaluation in gene-elusive endurance athletes with CAD and RV abnormalities; leaves open need for prospective validation.
Case Report (n=1)
Does periodic genetic retesting using novel analytical methods identify pathogenic variants in patients with initially gene-elusive arrhythmogenic cardiomyopathy?
Periodic genetic retesting using novel analytical methods is crucial for identifying pathogenic variants in patients with initially gene-elusive arrhythmogenic cardiomyopathy, which impacts family screening and risk stratification.
Tramer et al. (2026) conducted a case report in Arrhythmogenic cardiomyopathy (n=1). Repeat genetic testing vs. Initial genetic testing was evaluated on Identification of pathogenic variant. Repeat genetic testing using novel analytical methods after 3 years in a 52-year-old male athlete with gene-elusive arrhythmogenic cardiomyopathy identified a deep intronic pathogenic variant of PKP2.
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