SCN5A splice variants for use in methods relating to sudden cardiac death and need for implanted cadiac defibrillators

摘要

Provided herein are methods of determining a subject's need for an implanted cardiac defibrillator, methods of determining a subject's risk for sudden cardiac death (SCD), arrhythmias, or heart failure, methods of determining a subject's need for an anti-arrhythmic agent, e.g., a sodium channel blocker, and methods of reducing risk of SCD in a subject. In exemplary embodiments, each of the methods comprise the step of determining a ratio, Rs, which compares a level of a truncated SCN5A Exon 28 transcript of a biological sample obtained from the subject to (i) a level of a full length SCN5A Exon 28 transcript of the biological sample or (ii) a level of all SCN5A Exon 28 transcripts of the biological sample or (iii) a level of a full length SCN5A Exon 28 transcript and a level or one or more truncated SCN5A Exon 28 transcripts. Further provided herein are systems, computer-readable storage media, having stored thereon machine-readable instructions executable by a processor, and related methods implemented by a processor in a computer. Kits are additionally provided herein.