PURPOSE OF REVIEW: To summarize and critically assess the contribution of genetics to the Long QT Syndrome (LQTS), with specific reference to the unraveling of its underlying mechanisms and to its impact on clinical practice. RECENT FINDINGS: The evolution towards our current approach to therapy for LQTS patients is examined in terms of risk stratification, gene-specific management, and assessment of the clinical impact that genetic modifiers may have in modulating the natural history of the patients. Glimpses are provided on the newest multidisciplinary approaches to study disease mechanisms, test new candidate drugs and identify precision treatments. SUMMARY: It is undeniable that genetics has revolutionized our mechanistic understanding of cardiac channelopathies. Its impact has been enormous but, curiously, the way LQTS patients are being treated today is largely the same that was used in the pregenetic era, even though management has been refined and gene-specific differences allow a more individually tailored antiarrhythmic protection. The synergy of genetic findings with modern in vitro and in silico tools may expand precision treatments; however, they will need to prove more effective than the current therapeutic approaches and equally safe.

Schwartz, P., Sala, L. (2023). The impact of genetics on the long QT syndrome: myth or reality?. CURRENT OPINION IN CARDIOLOGY, 38(3), 149-156 [10.1097/HCO.0000000000001027].

The impact of genetics on the long QT syndrome: myth or reality?

Sala, Luca
Ultimo
2023

Abstract

PURPOSE OF REVIEW: To summarize and critically assess the contribution of genetics to the Long QT Syndrome (LQTS), with specific reference to the unraveling of its underlying mechanisms and to its impact on clinical practice. RECENT FINDINGS: The evolution towards our current approach to therapy for LQTS patients is examined in terms of risk stratification, gene-specific management, and assessment of the clinical impact that genetic modifiers may have in modulating the natural history of the patients. Glimpses are provided on the newest multidisciplinary approaches to study disease mechanisms, test new candidate drugs and identify precision treatments. SUMMARY: It is undeniable that genetics has revolutionized our mechanistic understanding of cardiac channelopathies. Its impact has been enormous but, curiously, the way LQTS patients are being treated today is largely the same that was used in the pregenetic era, even though management has been refined and gene-specific differences allow a more individually tailored antiarrhythmic protection. The synergy of genetic findings with modern in vitro and in silico tools may expand precision treatments; however, they will need to prove more effective than the current therapeutic approaches and equally safe.
Articolo in rivista - Review Essay
Cardiac Arrhythmias; Long QT Syndrome; Pluripotent Stem Cells
English
31-gen-2023
2023
38
3
149
156
none
Schwartz, P., Sala, L. (2023). The impact of genetics on the long QT syndrome: myth or reality?. CURRENT OPINION IN CARDIOLOGY, 38(3), 149-156 [10.1097/HCO.0000000000001027].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/403955
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