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Catecholaminergic Polymorphic Ventricular Tachycardia – Looking to the Future
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inheritable cardiac disorder, characterized by polymorphic ventricular tachycardia (PVT) or bidirectional ventricular tachycardia, triggered by adrenergic stress, and manifested most frequently as syncope or sudden cardiac death. The disease has a heterogeneous genetic basis, with mutations in the genes encoding the ryanodine and calsequestrin channels accounting for the majority of cases.
The diagnosis of CPVT is established in individuals with polymorphic ventricular premature beats, PVT or bidirectional ventricular tachycardia documented during exercise or adrenergic stress, who have a structurally normal heart and normal resting ECG. Genetic testing completes the diagnosis, but is limited by the fact that, to date, about one third of cases are genotype-unknown.
Treatment strategies have improved as the knowledge of the disease has evolved, and several therapeutic options are now available. They include pharmacologic measures (especially non-selective beta-blockers and flecainide), but also more complex interventions, such implantation of internal cardiac defibrillators and left cardiac sympathetic denervation.
There are many unknowns to CPVT, but one that is essential to clinical practice is risk stratification, which will aid in a more targeted treatment of these patients. This goal is to be achieved by creating large patient registries and bio-banks, and ultimately by incorporating both clinical and genetic data into a risk stratification score.
Keywords: cathecolaminergic polymorphic ventricular tachycardia, bidirectional tachycardia, sudden cardiac death, genetic mutations