The Genetic Basis of Sudden Cardiac Death: From Diagnosis to Emerging Genetic Therapies.
review · Level V
Where this comes from
- Record sourced from PubMed, PMID 39499917.
- Also identified by DOI 10.1146/annurev-med-042423-042903 and PMC identifier 11929482.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Sudden cardiac death (SCD) is an abrupt, tragic manifestation of a number of cardiovascular diseases, primarily ion channelopathies and heritable cardiomyopathies. Because these diseases are heritable, genetics play a key role in the diagnosis and management of SCD-predisposing diseases. Historically, genetics have been used to confirm a diagnosis and identify at-risk family members, but a deeper understanding of the genetic causes of SCD could pave the way for individualized therapy, early risk detection, and a transformative shift toward genetically informed therapies. This review focuses on the evolving genetic landscape of SCD-predisposing diseases, the current state of gene therapy and therapeutic development, and the promise of using predictive genetics to identify individuals at risk of SCD.
Medical subject headings
- Death, Sudden, Cardiac
- Genetic Therapy