Genetic of catecholaminergic polymorphic ventricular tachycardia: basic concepts.

Medeiros Domingo, Argelia (2009). Genetic of catecholaminergic polymorphic ventricular tachycardia: basic concepts. Archivos de cardiología de México, 79 Suppl 2, pp. 13-17. Instituto Nacional de Cardiología Ignacio Chávez

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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a cardiac channelopathy characterized by altered intracellular calcium handling resulting in ventricular arrhythmias and high risk of cardiac sudden death in young cases with normal structural hearts. Patients present with exertional syncope and the trademark dysrhythmia is polymorphic and/or bidirectional ventricular tachycardia during exercise or adrenergic stimulation. Early detection of CPVT is crucial because opportune medical intervention prevents sudden cardiac death. Mutations in the ryanodine receptor RYR2 explain nearly 70% of the CPVT cases and cause the autosomic dominant form of the disease. Mutations in calsequestrin 2 causes a recessive form and explain less than 5% of all cases. Genetic screening in CPVT, besides providing early detection of asymptomatic carriers at risk, has provided important insights in the mechanism underlying the disease. Mutational analysis of RYR2 has been a challenge due to the large size of the gene, 105 exons encoded for 4,967 amino-acids. In this review we analyze general concepts of the disease, differential diagnosis and strategies for genetic screening.

Item Type:

Journal Article (Review Article)

Division/Institute:

04 Faculty of Medicine > Department of Cardiovascular Disorders (DHGE) > Clinic of Cardiology

UniBE Contributor:

Medeiros Domingo, Argelia

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1405-9940

Publisher:

Instituto Nacional de Cardiología Ignacio Chávez

Language:

English

Submitter:

Argelia Medeiros Domingo

Date Deposited:

19 Jun 2014 16:36

Last Modified:

26 Jun 2016 01:47

PubMed ID:

20361477

URI:

https://boris.unibe.ch/id/eprint/42276

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