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Delay to diagnosis amongst patients with catecholaminergic polymorphic ventricular tachycardia

2014; Elsevier BV; Volume: 176; Issue: 3 Linguagem: Inglês

10.1016/j.ijcard.2014.08.020

1874-1754

Jennifer Kozlovski, Jodie Ingles, V. Connell, L. Hunt, Julie McGaughran, Christian Turner, Andrew M. Davis, Raymond W. Sy, Christopher Semsarian,

Cardiac Arrhythmias and Treatments

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a highly lethal, inherited arrhythmogenic disorder first described in 1975 [ [1] Reid D.S. Tynan M. Braidwood L. Fitzgerald G.R. Bidirectional tachycardia in a child. A study using His bundle electrography. Br Heart J. 1975; 37: 339-344 Crossref PubMed Scopus (145) Google Scholar ]. CPVT is characterised by polymorphic and/or bidirectional ventricular tachycardia in a structurally normal heart and is precipitated by the physiological release of catecholamines. CPVT has an estimated prevalence of 1 in 10,000 and is an important cause of sudden cardiac death (SCD) in the young [ 2 Hayashi M. Denjoy I. Extramiana F. et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009; 119: 2426-2434 Crossref PubMed Scopus (412) Google Scholar , 3 Pflaumer A. Davis A.M. Guidelines for the diagnosis and management of catecholaminergic polymorphic ventricular tachycardia. Heart Lung Circ. 2012; 21: 96-100 Abstract Full Text Full Text PDF PubMed Scopus (57) Google Scholar ]. The mean age at first symptom is 10 years [ 2 Hayashi M. Denjoy I. Extramiana F. et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009; 119: 2426-2434 Crossref PubMed Scopus (412) Google Scholar , 4 Andrsova I. Valaskova I. Kubus P. et al. Clinical characteristics and mutational analysis of the RyR2 gene in seven Czech families with catecholaminergic polymorphic ventricular tachycardia. Pacing Clin Electrophysiol. 2012; 35: 798-803 Crossref PubMed Scopus (2) Google Scholar , 5 Celiker A. Erdogan I. Karagoz T. Ozer S. Clinical experiences of patients with catecholaminergic polymorphic ventricular tachycardia. Cardiol Young. 2009; 19: 45-52 Crossref PubMed Scopus (42) Google Scholar , 6 Leenhardt A. Lucet V. Denjoy I. Grau F. Ngoc D.D. Coumel P. Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation. 1995; 91: 1512-1519 Crossref PubMed Scopus (854) Google Scholar , 7 Priori S.G. Napolitano C. Memmi M. et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002; 106: 69-74 Crossref PubMed Scopus (974) Google Scholar ] and SCD can be the first sign of disease [ 8 Cerrone M. Colombi B. Bloise R. Memmi M. Moncalvo C. Clinical and molecular characterization of a large cohort of patients affected by catecholaminergic polymorphic ventricular tachycardia. Circulation. 2004; 110: III-552 Crossref Scopus (131) Google Scholar , 9 Swan H. Piippo K. Viitasalo M. et al. Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol. 1999; 34: 2035-2042 Abstract Full Text Full Text PDF PubMed Scopus (303) Google Scholar ]. Untreated, the mortality of CPVT reaches 30% by age 30 years [ 2 Hayashi M. Denjoy I. Extramiana F. et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009; 119: 2426-2434 Crossref PubMed Scopus (412) Google Scholar , 8 Cerrone M. Colombi B. Bloise R. Memmi M. Moncalvo C. Clinical and molecular characterization of a large cohort of patients affected by catecholaminergic polymorphic ventricular tachycardia. Circulation. 2004; 110: III-552 Crossref Scopus (131) Google Scholar , 9 Swan H. Piippo K. Viitasalo M. et al. Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol. 1999; 34: 2035-2042 Abstract Full Text Full Text PDF PubMed Scopus (303) Google Scholar ]. Mutations in the ryanodine receptor 2 gene (RYR2) underlie the autosomal dominant form of CPVT and mutations in the cardiac calsequestrin gene (CASQ2) are responsible for an autosomal recessive form [ [2] Hayashi M. Denjoy I. Extramiana F. et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009; 119: 2426-2434 Crossref PubMed Scopus (412) Google Scholar ]. The diagnosis of CPVT is made following exercise-induced bidirectional ventricular tachycardia on exercise testing and/or genetic testing. The resting ECG is generally normal, often showing sinus bradycardia, while the echocardiogram classically shows a structurally normal heart [ 6 Leenhardt A. Lucet V. Denjoy I. Grau F. Ngoc D.D. Coumel P. Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation. 1995; 91: 1512-1519 Crossref PubMed Scopus (854) Google Scholar , 7 Priori S.G. Napolitano C. Memmi M. et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002; 106: 69-74 Crossref PubMed Scopus (974) Google Scholar , 9 Swan H. Piippo K. Viitasalo M. et al. Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol. 1999; 34: 2035-2042 Abstract Full Text Full Text PDF PubMed Scopus (303) Google Scholar , 10 Sumitomo N. Harada K. Nagashima M. et al. Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death. Heart. 2003; 89: 66-70 Crossref PubMed Scopus (300) Google Scholar ]. Current class I recommendations for treatment include beta-blocker therapy and an implantable cardioverter defibrillator (ICD) therapy [ [11] Zipes D.P. Camm A.J. Borggrefe M. et al. ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. Europace. 2006; 8: 746-837 Crossref PubMed Scopus (477) Google Scholar ].