Precision Medicine in Catecholaminergic Polymorphic Ventricular Tachycardia

被引:39
作者
Priori, Silvia G. [1 ,2 ,3 ]
Mazzanti, Andrea [1 ,2 ,3 ]
Santiago, Demetrio J. [3 ]
Kukavica, Deni [1 ,2 ]
Trancuccio, Alessandro [1 ,2 ]
Kovacic, Jason C. [4 ,5 ,6 ]
机构
[1] IRCCS, Ist Clin Sci Maugeri, Mol Cardiol, Pavia, Italy
[2] Univ Pavia, Dept Mol Med, Pavia, Italy
[3] Fdn Ctr Nacl Invest Cardiovasc, Mol Cardiol, Madrid, Spain
[4] Victor Chang Cardiac Res Inst, Lowy Packer Bldg,405 Liverpool St, Darlinghurst, NSW 2010, Australia
[5] UNSW Sydney, St Vincents Clin Sch, Kensington, NSW, Australia
[6] Icahn Sch Med Mt Sinai, Zena & Michael A Wiener Cardiovasc Inst, New York, NY 10029 USA
基金
美国国家卫生研究院; 欧洲研究理事会;
关键词
catecholaminergic polymorphic ventricular tachycardia precision medicine; genetics; cardiovascular; CARDIAC RYANODINE RECEPTOR; CALCIUM-RELEASE CHANNEL; INDUCED CA2+ RELEASE; IMPLANTABLE CARDIOVERTER-DEFIBRILLATORS; MOUSE MODEL; ARRHYTHMIC PHENOTYPE; SUDDEN-DEATH; GENE-THERAPY; IN-VIVO; CALSEQUESTRIN;
D O I
10.1016/j.jacc.2020.12.073
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:2592 / 2612
页数:21
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