Catecholaminergic Polymorphic Ventricular Tachycardia

Abstract

Catecholaminergic polymorphic ventricular tachycardia (CPVT) can be broadly viewed as a genetically determined disorder of the cardiac calcium handling. Different genes have been causally linked to the disease. It is currently evident that authors tend to define as “CPVT” all the forms of cardiac arrhythmia triggered by adrenergic activation. However, to distinguish the clinical condition described by Philippe Coumel in the 1970s form, other CPVT-like phenotypes have value since these latter have more complex and less defined clinical manifestations. The severe clinical manifestations of CPVT are now much better understood and treated, thanks to the insights provided by more than 15 years of research after the first CPVT gene was identified. Still, the clinical diagnosis can be elusive due to presence of an unremarkable resting ECG and structurally normal heart. Thus, it is not uncommon that the opportunity of prescribing lifesaving treatments is missed in the daily clinical activity. The awareness on the crucial role of early diagnosis and therapy should be part of the standard cardiologic knowledge despite the relative low prevalence of the disease (1–2:10,000). Additional hurdles for the clinical management can derive from the incomplete response to therapy and from limited patient’s compliance to lifelong drug therapy. For this reason a remarkable effort is directed toward the development of novel therapies and particularly gene therapy. This strategy is attracting the attention of the medical community given the strong preclinical evidences of effectiveness. Here, we provide an update on CPVT from the clinical, genetic, and experimental point of view in the attempt to delineate the current scenario and the future directions.