Precision Medicine and Cardiac Channelopathies: Human iPSCs Take the Lead

Sneha Annie Sebastian, Venkatesh Panthangi, Yashendra Sethi, Inderbir Padda, Ubaid Khan, Ziad R. Affas, Chinmaya Mareddy, Lee Dolack, Gurpreet Johal

Research output: Contribution to journalReview articlepeer-review

4 Scopus citations

Abstract

Sudden cardiac death (SCD) is one of the leading causes of death worldwide, usually involving young people. SCD remains a critical public health problem accounting for 185,000-450,000 deaths annually, representing around 7%-18% of all deaths globally. As per evidence, ∼2%-54% of sudden unexpected deaths in people under the age of 35 years fail to show evidence of structural cardiac abnormalities at autopsy, making ion channelopathies the probable causes in such cases. The most generally recognized cardiac ion channelopathies with genetic testing are long QT syndrome (LQTS), Brugada syndrome (BrS), short QT syndrome (SQTS), and catecholaminergic polymorphic ventricular tachycardia (CPVT). The substantial progress in understanding the genetics of ion channelopathies in the last 2 decades has obliged the early diagnosis and prevention of SCD to a certain extent. In this review, we analyze the critical challenges and recent advancements in the identification, risk stratification, and clinical management of potentially fatal cardiac ion channel disorders. We also emphasize the application of precision medicine (PM) and artificial intelligence (AI) for comprehending the underlying genetic mechanisms, especially the role of human induced pluripotent stem cell (iPSC) based platforms to unravel the primary refractory clinical problems associated with channelopathies.

Original languageEnglish
Article number101990
JournalCurrent Problems in Cardiology
Volume48
Issue number12
DOIs
StatePublished - Dec 2023
Externally publishedYes

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