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(Circulation. 2002;106:69.)
© 2002 American Heart Association, Inc.

Clinical Investigation and Reports

Clinical and Molecular Characterization of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia

Silvia G. Priori, MD, PhD; Carlo Napolitano, MD, PhD; Mirella Memmi, PhD; Barbara Colombi, BS; Fabrizio Drago, MD; Maurizio Gasparini, MD; Luciano DeSimone, MD; Fernando Coltorti, MD; Raffaella Bloise, MD; Roberto Keegan, MD; Fernando E.S. Cruz Filho, MD; Gabriele Vignati, MD; Abraham Benatar, MD; Angelica DeLogu, MD

From Molecular Cardiology (S.G.P., C.N., M.M., B.C., R.B.), IRCCS Fondazione S. Maugeri, University of Pavia, Pavia, Italy; Cardiologia Pediatrica, Ospedale Bambin Gesù (F.D.), Roma, Italy; Unità Operativa di Elettrofisiologia (M.G., F.C.), Istituto Clinico Humanitas, Rozzano, Italy; Cardiologia Pediatrica (L.D.), Ospedale Meyer, Firenze, Italy; Servicio de Cardiología (R.K.), HIGA Dr. José Penna, Bahía Blanca, Argentina; Instituto de Cardiologia Laranjeiras, Ministry of Health of Brazil (F.E.S.C.F.), Rio de Janeiro, Brazil; Cardiologia Pediatrica (G.V.), Ospedale Niguarda, Milano, Italy; Pediatric Cardiology (A.B.), Academic Hospital VUB, Brussels, Belgium; and Cardiologia Pediatrica (A.D.), Policlinico Gemelli, Roma, Italy.

Correspondence to Silvia G. Priori, MD, PhD, Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Via Ferrata 8, 27100 Pavia, Italy. E-mail spriori{at}fsm.it

Background— Mutations in the cardiac ryanodine receptor gene (RyR2) underlie catecholaminergic polymorphic ventricular tachycardia (CPVT), an inherited arrhythmogenic disease occurring in the structurally intact heart. The proportion of patients with CPVT carrying RyR2 mutations is unknown, and the clinical features of RyR2-CPVT as compared with nongenotyped CPVT are undefined.

Methods and Results— Patients with documented polymorphic ventricular arrhythmias occurring during physical or emotional stress with a normal heart entered the study. The clinical phenotype of the 30 probands and of 118 family members was evaluated, and mutation screening on the RyR2 gene was performed. Arrhythmias documented in probands were: 14 of 30 bidirectional ventricular tachycardia, 12 of 30 polymorphic ventricular tachycardia, and 4 of 30 catecholaminergic idiopathic ventricular fibrillation; RyR2 mutations were identified in 14 of 30 probands (36% bidirectional ventricular tachycardia, 58% polymorphic ventricular tachycardia, 50% catecholaminergic idiopathic ventricular fibrillation) and in 9 family members (4 silent gene carriers). Genotype-phenotype analysis showed that patients with RyR2 CPVT have events at a younger age than do patients with nongenotyped CPVT and that male sex is a risk factor for syncope in RyR2-CPVT (relative risk=4.2).

Conclusions— CPVT is a clinically and genetically heterogeneous disease manifesting beyond pediatric age with a spectrum of polymorphic arrhythmias. ß-Blockers reduce arrhythmias, but in 30% of patients an implantable defibrillator may be required. Genetic analysis identifies two groups of patients: Patients with nongenotyped CPVT are predominantly women and become symptomatic later in life; patients with RyR2 CPVT become symptomatic earlier, and men are at higher risk of cardiac events. These data provide a rationale for prompt evaluation and treatment of young men with RyR2 mutations.

Key Words: death, sudden • genetics • arrhythmia • catecholamines

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				M. N. Obreztchikova, E. A. Sosunov, E. P. Anyukhovsky, N. S. Moise, R. B. Robinson, and M. R. Rosen Heterogeneous Ventricular Repolarization Provides a Substrate for Arrhythmias in a German Shepherd Model of Spontaneous Arrhythmic Death Circulation, September 16, 2003; 108(11): 1389 - 1394. [Abstract] [Full Text] [PDF]

				B. J. Maron Sudden Death in Young Athletes N. Engl. J. Med., September 11, 2003; 349(11): 1064 - 1075. [Full Text] [PDF]

				H. Honjo, M. R. Boyett, R. Niwa, S. Inada, M. Yamamoto, K. Mitsui, T. Horiuchi, N. Shibata, K. Kamiya, and I. Kodama Pacing-Induced Spontaneous Activity in Myocardial Sleeves of Pulmonary Veins After Treatment With Ryanodine Circulation, April 15, 2003; 107(14): 1937 - 1943. [Abstract] [Full Text] [PDF]

				H. Lahat, E. Pras, M. Eldar, S. G. Priori, R. Bolise, M. Memmi, B. Colombi, C. Napolitano, F. Coltorti, M. Gasparini, et al. RYR2 and CASQ2 Mutations in Patients Suffering From Catecholaminergic Polymorphic Ventricular Tachycardia * Response Circulation, January 28, 2003; 107 (3): e29 - e29. [Full Text] [PDF]

				Z. Liu, J. Zhang, P. Li, S. R. W. Chen, and T. Wagenknecht Three-dimensional Reconstruction of the Recombinant Type 2 Ryanodine Receptor and Localization of Its Divergent Region 1 J. Biol. Chem., November 22, 2002; 277(48): 46712 - 46719. [Abstract] [Full Text] [PDF]

				A. V. Postma, I. Denjoy, T. M. Hoorntje, J.-M. Lupoglazoff, A. Da Costa, P. Sebillon, M. M.A.M. Mannens, A. A.M. Wilde, and P. Guicheney Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia Circ. Res., October 18, 2002; 91 (8): e21 - e26. [Abstract] [Full Text] [PDF]

				A. R. Marks Clinical Implications of Cardiac Ryanodine Receptor/Calcium Release Channel Mutations Linked to Sudden Cardiac Death Circulation, July 2, 2002; 106(1): 8 - 10. [Full Text] [PDF]