October 1, 2025European Heart Journal2 citations

Gene-therapy in inherited channelopathies like short-QT syndrome: a robust direction towards precision medicine

NHNazha Hamdani İAİbrahim Akın IEIbrahim El‐Battrawy

Structured PICO

Population

Inherited channelopathies including long-QT syndrome (LQTS1, LQTS2, LQTS3), Brugada syndrome (BrS), short-QT syndrome type 1 (SQTS1), and catecholaminergic polymorphic ventricular tachycardia (CPVT)

Intervention

Gene therapy targeting specific genes (SCN5A, KCNQ1, KCNH2, RYR2, CASQ2)

Gene therapy represents a promising precision medicine approach for the treatment of inherited cardiac channelopathies.

Abstract

The role of gene therapy in inherited channelopathies. Successful gene therapy approaches have been developed for the SCN5A gene in long-QT syndrome type 3 (LQTS3) and Brugada syndrome (BrS), the KCNQ1 gene in long-QT syndrome type 1 (LQTS1), the KCNH2 (HERG) gene in long-QT syndrome type 2 (LQTS2) and short-QT syndrome type 1 (SQTS1), and the ryanodine receptor 2 (RYR2) or calsequestrin 2 (CASQ2) genes in catecholaminergic polymorphic ventricular tachycardia (CPVT). INa, sodium current; IKr, rapid delayed rectifier potassium current; IKs, slow delayed rectifier potassium current; PLB, phospholamban; SERCA, sarcoplasmic/endoplasmic reticulum calcium ATPase; GoF, gain of function; LoF, loss of function

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