High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening

Europace

Volumn 12, Issue 3, 2010, Pages 417-423

  Haugaa, Kristina Hermann ^a,b   Leren, Ida Skrinde ^b   Berge, Knut Erik ^a   Bathen, Jørn ^c   Loennechen, Jan Pål ^c,d   Anfinsen, Ole Gunnar ^a   Früh, Andreas ^a   Edvardsen, Thor ^a,b   Kongsgård, Erik ^a   Leren, Trond P ^a   Amlie, Jan P ^a,b  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

^c TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^d NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

Author keywords

Blocker treatment; CPVT; Exercise test; Ventricular arrhythmias

Indexed keywords

BISOPROLOL; CARVEDILOL; METOPROLOL SUCCINATE; NADOLOL; PROPRANOLOL; RYANODINE RECEPTOR 2;

ADOLESCENT; ADULT; AGED; ARTICLE; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; DRUG EFFICACY; DRUG TOLERABILITY; EXERCISE TEST; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC SCREENING; HEART ARRHYTHMIA; HEART RATE; HUMAN; MALE; PREVALENCE; PRIORITY JOURNAL; RECEPTOR GENE; SYMPTOM; WORKLOAD;

ADOLESCENT; ADRENERGIC BETA-ANTAGONISTS; ADULT; AGED; CATECHOLAMINES; CHILD; DEFIBRILLATORS, IMPLANTABLE; ELECTROCARDIOGRAPHY; EXERCISE; EXERCISE TEST; FAMILY HEALTH; FEMALE; GENETIC TESTING; HEART RATE; HUMANS; MALE; MIDDLE AGED; POINT MUTATION; PREVALENCE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; TACHYCARDIA, VENTRICULAR; YOUNG ADULT;

EID: 77749323194     PISSN: 10995129     EISSN: 15322092     Source Type: Journal    
DOI: 10.1093/europace/eup448     Document Type: Article

References (21)

1. Kontula K, Laitinen PJ, Lehtonen A, Toivonen L, Viitasalo M, Swan H. Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights. Cardiovasc Res 2005;67:379-87.
2. Leenhardt A, Lucet V, Denjoy I, Grau F, Ngoc DD, Coumel P. Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation 1995;91:1512-9.
3. Postma AV, Denjoy I, Kamblock J, Alders M, Lupoglazoff JM, Vaksmann G et al. Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J Med Genet 2005;42:863-70.
4. Swan H, Piippo K, Viitasalo M, Heikkila P, Paavonen T, Kainulainen K et al. Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol 1999;34:2035-42.
5. Napolitano C, Priori SG. Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm 2007;4:675-8.
6. Priori SG, Napolitano C, Memmi M, Colombi B, Drago F, Gasparini M et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002;106:69-74.
7. Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2001;103:196-200.
8. Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O et al. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am J Hum Genet 2001;69:1378-84.
9. Liu N, Ruan Y, Priori SG. Catecholaminergic polymorphic ventricular tachycardia. Prog Cardiovasc Dis 2008;51:23-30.
10. Bauce B, Rampazzo A, Basso C, Bagattin A, Daliento L, Tiso N et al. Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers. J Am Coll Cardiol 2002;40:341-9.
11. Hayashi M, Denjoy I, Extramiana F, Maltret A, Buisson NR, Lupoglazoff JM et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation 2009;119:2426-34.
12. Rosso R, Kalman JM, Rogowski O, Diamant S, Birger A, Biner S et al. Calcium channel blockers and beta-blockers versus beta-blockers alone for preventing exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm 2007;4:1149-54.
13. Sumitomo N, Harada K, Nagashima M, Yasuda T, Nakamura Y, Aragaki Y et al. Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death. Heart 2003;89:66-70.
14. Berge KE, Haugaa KH, Fruh A, Anfinsen OG, Gjesdal K, Siem G et al. Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest 2008;68:362-8.
15. Savard P, Rouleau JL, Ferguson J, Poitras N, Morel P, Davies RF et al. Risk stratification after myocardial infarction using signal-averaged electrocardiographic criteria adjusted for sex, age, and myocardial infarction location. Circulation 1997;96: 202-13.
16. Blomstrom-Lundqvist C, Hirsch I, Olsson SB, Edvardsson N. Quantitative analysis of the signal-averaged QRS in patients with arrhythmogenic right ventricular dysplasia. Eur Heart J 1988;9:301-12.
17. Kaminsky LA, Whaley MH. Evaluation of a new standardized ramp protocol: the BSU/Bruce ramp protocol. J Cardiopulm Rehabil 1998;18:438-44.
18. Swan H, Laitinen PJ. Familial polymorphic ventricular tachycardia - intracellular calcium channel disorder. Card Electrophysiol Rev 2002;6:81-7.
19. Wilde AA, Bhuiyan ZA, Crotti L, Facchini M, De Ferrari GM, Paul T et al. Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia. N Engl J Med 2008;358:2024-9.
20. Mohamed U, Gollob MH, Gow RM, Krahn AD. Sudden cardiac death despite an implantable cardioverter-defibrillator in a young female with catecholaminergic ventricular tachycardia. Heart Rhythm 2006;3:1486-9.
21. Watanabe H, Chopra N, Laver D, Hwang HS, Davies SS, Roach DE et al. Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans. Nat Med 2009;15:380-3.