Why the study?
Cardiac channelopathies are an important cause of sudden cardiac death in young individuals and pose a significant diagnostic challenge in clinical and pathological practice, prompting a critical evaluation of current evidence on genomics and precision medicine in their diagnosis, risk stratification, and management.
Population
Individuals with cardiac channelopathies at risk of sudden cardiac death
Design
Literature review
Answers are grounded in this paper and cite their sources.
Genomic advances aid channelopathy diagnosis in young SCD; leaves open prospective validation before routine adoption.
Cardiac channelopathies are an important cause of sudden cardiac death (SCD) in young individuals and pose a significant diagnostic challenge in clinical and pathological practice. In recent years, advances in genomics and precision medicine have profoundly transformed our understanding of the molecular mechanisms underlying these diseases, allowing the identification of genetic variants associated with cardiac ion channel dysfunction. The use of advanced genomic tests and genetic screening programs now allows for earlier diagnosis and better identification of individuals and family members at risk. Furthermore, the integration of genomic biomarkers, functional genomics approaches, and big data analysis are helping to improve genotype–phenotype correlation and risk stratification. Genomic medicine offers new opportunities to develop personalized diagnostic and therapeutic strategies. This literature review critically evaluates current evidence on the role of genomics in the diagnosis, screening, risk stratification, and management of cardiac channelopathies, with particular emphasis on precision medicine and the prevention of SCD.
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Salzillo et al. (2026) studied this question.
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