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Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Definition

CPVT is characterized by adrenergically mediated polymorphic Ventricular Tachycardia that may degenerate into cardiac arrest and cause sudden cardiac death in patients with structurally normal heart. The prevalence of the disease is estimated in 1:10:000. Patients with CPVT typically present with exercise or emotion-induced palpitations, dizziness and/or syncope often during childhood or adolescence, cardiac arrest can be the first manifestation of the disease in up to 30% of the patients and this fatal event can occur at any age.

Why to perform genetic testing in cases with suspected CPVT

  • To confirm the diagnosis
  • To perform risk stratification and prognosis
  • To adjust medical therapy
  • To identify other relatives at risk to develop the disease

 

Our CPVT test panel

CALM1, CALM2, CALM3, CASQ2, KCNJ2, PKP2, RYR2, SCN5A, TECRL, TRDN.

Important: All our panels can be modified based on the phenotype. Please contact us if you have questions

What to expect from CPVT test: The CPVT genetic test has a yield of 60-70%

 

Recommended Literature

  • Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation. Kapplinger JD et al., Circ Genom Precis Med. 2018 Feb;11(2):e001424. doi: 10.1161/CIRCGEN.116.001424.
  • The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia? Leinonen JT et al., Int J Cardiol. 2018 Jan 1;250:139-145. doi: 10.1016/j.ijcard.2017.10.016.
  • Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals. Landstrom AP, et al., Circ Arrhythm Electrophysiol. 2017 Apr;10(4). pii: e004742. doi: 10.1161/CIRCEP.116.004742.

 

Download here interesting open access manuscripts on genetics of CPVT