Cardiac Channelopathies and Sudden Cardiac Death: The Role of Genomics and Precision Medicine in Cardiovascular Pathology Diagnosis

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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Publication Details

Journal
Current Issues in Molecular Biology
Published
2026-11-09
DOI
https://doi.org/10.3390/cimb48111181
Primary Topic
Cardiac electrophysiology and arrhythmias
Type
article
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article

Cardiac Channelopathies and Sudden Cardiac Death: The Role of Genomics and Precision Medicine in Cardiovascular Pathology Diagnosis

Andrea Marzullo, Cecilia Salzillo
Current Issues in Molecular Biology
Cardiac electrophysiology and arrhythmias
article

Cardiac Channelopathies and Sudden Cardiac Death: The Role of Genomics and Precision Medicine in Cardiovascular Pathology Diagnosis

Andrea Marzullo, Cecilia Salzillo
article en

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.

Current Issues in Molecular BiologyVol. 48(11)
University of Bari Aldo Moro (IT)
Cardiac electrophysiology and arrhythmias
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