Population
One 24-year-old man referred after his mother's sudden death
Design
Case report
Follow-up
10 years
Key result
Genetic re-evaluation of a patient with arrhythmogenic cardiomyopathy identified a pathogenic DSP deletion, correcting a 10-year misdiagnosis of a PKP2 variant and altering family screening.
Authors
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Re-evaluate ACM genetic variants periodically; extends evidence that reclassification can correct misdiagnoses and alter family screening.
This case highlights the critical importance of periodically re-evaluating genetic variants and integrating them with clinical imaging, as a patient's diagnosis was fundamentally changed 10 years later, impacting both his management and family screening.
Mata et al. (2026) studied this question. Genetic re-evaluation of a patient with arrhythmogenic cardiomyopathy identified a pathogenic DSP deletion, correcting a 10-year misdiagnosis of a PKP2 variant and altering family screening.