Cardiac Channelopathies and Sudden Cardiac Death: The Role of Genomics and Precision Medicine in Cardiovascular Pathology Diagnosis
Year: 2026
Type: article
Abstract: 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.
DOI: 10.3390/cimb48111181
Authors: Cecilia Salzillo, Andrea Marzullo
Institution: University of Bari Aldo Moro
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,654
OpenAlex ID: W7225655037