Catecholaminergic polymorphic ventricular tachycardia diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mounika Reddy Vadiyala, M.B.B.S.[2]

Overview

Exercise stress testing helps in establishing the diagnosis and genetic testing helps in confirming the diagnosis of catecholaminergic polymorphic ventricular tachycardia.

Diagnostic Study of Choice

  • Catecholaminergic polymorphic ventricular tachycardia is a diagnosis based on reproducing ventricular arrhythmias during exercise stress testing, syncope occurring during physical activity and acute emotion, and a history of exercise or emotion-related palpitations and dizziness with an absence of structural cardiac abnormalities.

Study of choice

  • Exercise stress testing is the gold standard test for the diagnosis of catecholaminergic polymorphic ventricular tachycardia.[1]
  • Genetic testing helps in confirming the diagnosis of catecholaminergic polymorphic ventricular tachycardia.[2][3]

Diagnostic Criteria

The diagnosis of CPVT is made when at least one of the following four diagnostic criteria are met:[4][5]

  1. CPVT is diagnosed in the presence of a structurally normal heart, normal ECG, and unexplained exercise or catecholamine-induced bidirectional VT, polymorphic ventricular premature beats or VT in individuals <40 years of age.
  2. CPVT is diagnosed in patients (index case or family member) who have a pathogenic mutation.
  3. CPVT is diagnosed in family members of a CPVT index case with a normal heart who manifest exercise-induced premature ventricular contractions or bidirectional/ polymorphic VT.
  4. CPVT can be diagnosed in the presence of a structurally normal heart and coronary arteries, normal ECG, and unexplained exercise or catecholamine-induced bidirectional VT, polymorphic ventricular premature beats or VT in individuals >40 years of age.

References

  1. Imberti, Jacopo F.; Underwood, Katherine; Mazzanti, Andrea; Priori, Silvia G. (2016). "Clinical Challenges in Catecholaminergic Polymorphic Ventricular Tachycardia". Heart, Lung and Circulation. 25 (8): 777–783. doi:10.1016/j.hlc.2016.01.012. ISSN 1443-9506.
  2. Ackerman, M. J.; Priori, S. G.; Willems, S.; Berul, C.; Brugada, R.; Calkins, H.; Camm, A. J.; Ellinor, P. T.; Gollob, M.; Hamilton, R.; Hershberger, R. E.; Judge, D. P.; Le Marec, H.; McKenna, W. J.; Schulze-Bahr, E.; Semsarian, C.; Towbin, J. A.; Watkins, H.; Wilde, A.; Wolpert, C.; Zipes, D. P. (2011). "HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)". Europace. 13 (8): 1077–1109. doi:10.1093/europace/eur245. ISSN 1099-5129.
  3. "Catecholaminergic Polymorphic Ventricular Tachycardia - GeneReviews® - NCBI Bookshelf".
  4. Priori, Silvia G.; Wilde, Arthur A.; Horie, Minoru; Cho, Yongkeun; Behr, Elijah R.; Berul, Charles; Blom, Nico; Brugada, Josep; Chiang, Chern-En; Huikuri, Heikki; Kannankeril, Prince; Krahn, Andrew; Leenhardt, Antoine; Moss, Arthur; Schwartz, Peter J.; Shimizu, Wataru; Tomaselli, Gordon; Tracy, Cynthia; Ackerman, Michael; Belhassen, Bernard; Estes, N. A. Mark; Fatkin, Diane; Kalman, Jonathan; Kaufman, Elizabeth; Kirchhof, Paulus; Schulze-Bahr, Eric; Wolpert, Christian; Vohra, Jitendra; Refaat, Marwan; Etheridge, Susan P.; Campbell, Robert M.; Martin, Edward T.; Quek, Swee Chye (2013). "Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes". EP Europace. 15 (10): 1389–1406. doi:10.1093/europace/eut272. ISSN 1532-2092.
  5. Priori, Silvia G.; Blomström-Lundqvist, Carina; Mazzanti, Andrea; Blom, Nico; Borggrefe, Martin; Camm, John; Elliott, Perry Mark; Fitzsimons, Donna; Hatala, Robert; Hindricks, Gerhard; Kirchhof, Paulus; Kjeldsen, Keld; Kuck, Karl-Heinz; Hernandez-Madrid, Antonio; Nikolaou, Nikolaos; Norekvål, Tone M.; Spaulding, Christian; Van Veldhuisen, Dirk J. (2015). "2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death". European Heart Journal. 36 (41): 2793–2867. doi:10.1093/eurheartj/ehv316. ISSN 0195-668X.

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