Provides a proposed standard approach for managing patients who are incidentally found to have genomic variants associated with ARVC.
NA variants that are expected to confer risk for arrhythmogenic right ventricular cardiomyopathy (ARVC) are recommended as returnable secondary findings from clinical genomic sequencing.However, ARVC presents several distinct challenges for the care and management of patients ascertained through this genome-first approach.We discuss these challenges and present recent cases that exemplify their impact in a clinical setting.We also propose a standard approach to management of genome-first ARVC evaluations and surveillance and finally discuss potential diagnostic innovations that may provide substantial benefits to patients in this setting, particularly given the acceleration of precision health.
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Haggerty et al. (2018) studied this question.
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