Why the study?
Ongoing advances in pathophysiology and genotype-phenotype associations are evolving approaches to diagnosis and management of heritable cardiac channelopathies, where initial diagnoses may prove inaccurate over time.
Routine reevaluation of patients with heritable cardiac channelopathies is crucial as evolving genotypic and phenotypic knowledge can alter initial diagnoses and management.
Life-threatening arrhythmias in apparently healthy individuals can be due to diverse heritable cardiac channelopathies.1 Ongoing advances revealing the underlying pathophysiology and genotype-phenotype associations are constantly evolving our approaches to diagnosis and management of these clinical entities.1–3 In some cases, initial diagnoses prove inaccurate over time, so routine reevaluation of each patient and family member remains an important element of care, with potentially life-altering ramifications.
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Johnsrude et al. (2022) studied this question.
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