4.7 Article

Precision Medicine in Catecholaminergic Polymorphic Ventricular Tachycardia

Journal

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
Volume 77, Issue 20, Pages 2592-2612

Publisher

ELSEVIER SCIENCE INC
DOI: 10.1016/j.jacc.2020.12.073

Keywords

catecholaminergic polymorphic ventricular tachycardia precision medicine; genetics; cardiovascular

Funding

  1. ERC Advanced Grant [669387]
  2. Telethon [GGP19134]
  3. National Institutes of Health [R01HL130423, R01HL135093, R01HL148167-01A1]
  4. New South Wales health [RG194194]
  5. European Research Council (ERC) [669387] Funding Source: European Research Council (ERC)

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This article focuses on the precision medicine opportunities for catecholaminergic polymorphic ventricular tachycardia (CPVT), highlighting that CPVT can manifest as typical or atypical forms with different genetic changes and features, which is crucial for implementing personalized therapeutic approaches.
In this final of a 5-part Focus Seminar series on precision medicine, we focus on catecholaminergic polymorphic ventricular tachycardia (CPVT). This focus on CPVT allows us to take a deep dive and explore the full extent of the precision medicine opportunities for a single cardiovascular condition at a level that was not possible in the preceding articles. As a new paradigm presented in this article, it has become clear that CPVT can occur as either a typical or atypical form. Although there is a degree of overlap between the typical and atypical forms, it is notable that they arise due to different underlying genetic changes, likely exhibiting differing mechanisms of action, and presenting with different phenotypic features. The recognition of these differing forms of CPVT and their different etiologies and mechanisms is an important step toward implementing rapidly emerging precision medicine approaches that will tailor novel therapies to specific gene defects. (J Am Coll Cardiol 2021;77:2592-612) (c) 2021 by the American College of Cardiology Foundation.

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