TY - JOUR
T1 - Precision Medicine in Catecholaminergic Polymorphic Ventricular Tachycardia
T2 - JACC Focus Seminar 5/5
AU - Priori, Silvia G.
AU - Mazzanti, Andrea
AU - Santiago, Demetrio J.
AU - Kukavica, Deni
AU - Trancuccio, Alessandro
AU - Kovacic, Jason C.
N1 - Funding Information:
The authors thank the scientists who have contributed to the last 20 years of research on CPVT in Pavia and Madrid. Without their dedication, passion and bright minds we would have not written this story: Nian Liu, Yanfei Ruan, Rossana Bongianino, Marco Denegri, Carlo Napolitano, Mirella Memmi, Nicoletta Rizzi, Marina Cerrone, Raffaella Bloise, Nicola Monteforte. Figures 2A, 5, 6, and the Central Illustration were created using BioRender.com.
Funding Information:
This work was supported by ERC Advanced Grant N. 669387 and Telethon Grants N. GGP19134. Dr. Kovacic acknowledges research support from the National Institutes of Health (R01HL130423, R01HL135093, R01HL148167-01A1) and New South Wales health grant RG194194. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.
Publisher Copyright:
© 2021 American College of Cardiology Foundation
PY - 2021/5/25
Y1 - 2021/5/25
N2 - 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.
AB - 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.
KW - cardiovascular
KW - catecholaminergic polymorphic ventricular tachycardia precision medicine
KW - genetics
UR - http://www.scopus.com/inward/record.url?scp=85105561130&partnerID=8YFLogxK
U2 - 10.1016/j.jacc.2020.12.073
DO - 10.1016/j.jacc.2020.12.073
M3 - Review article
C2 - 34016269
AN - SCOPUS:85105561130
SN - 0735-1097
VL - 77
SP - 2592
EP - 2612
JO - Journal of the American College of Cardiology
JF - Journal of the American College of Cardiology
IS - 20
ER -