title: Importance of ventricular tachycardia storms not terminated by implantable cardioverter defibrillators shocks in patients with CASQ2 associated catecholaminergic polymorphic ventricular tachycardia.
abstract: In this study, the clinical and implantable cardioverter-defibrillator (ICD)-related follow-up of patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) with homogenous missense mutations in CASQ2 was summarized. Patients were followed in a pediatric cardiology clinic and an ICD clinic. All patients were treated with high-dose β blockers. ICDs were recommended for patients who remained symptomatic despite medical treatment. Twenty-seven patients were followed for 1 to 15 years (median 9). Twenty patients (74%) were symptomatic at diagnosis; 13 (65%) remained symptomatic after treatment with high-dose β blockers and thus were advised to receive ICDs. Eight of these patients refused ICDs, and eventually 6 (75%) died suddenly. Four of the 5 patients who received ICDs had ventricular tachycardia storms treated but not terminated by recurrent ICD shocks. These ventricular tachycardia storms (2 episodes in 2 patients and 1 episode in 2 patient) terminated spontaneously after finishing the programmed ICD shocks, without degeneration to ventricular fibrillation. None of the patients who received ICDs died. In conclusion, patients with CASQ2-associated CPVT should be recommended to receive ICDs to prevent sudden death when medical therapy is not effective. These patients may have recurrent ventricular tachycardia storms treated but not terminated by recurrent ICD shocks, without degeneration to ventricular fibrillation.
authors.affiliation: Division of Pacing and Electrophysiology, Rambam Health Care Campus and Bruce Rappaport Faculty of Medicine, Haifa, Israel. i_marai@rambam.health.gov.il
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Marai
authors.forename: Asaad
authors.initials: A
authors.lastname: Khoury
authors.forename: Mahmoud
authors.initials: M
authors.lastname: Suleiman
authors.forename: Lior
authors.initials: L
authors.lastname: Gepstein
authors.forename: Miri
authors.initials: M
authors.lastname: Blich
authors.forename: Abraham
authors.initials: A
authors.lastname: Lorber
authors.forename: Monther
authors.initials: M
authors.lastname: Boulos
mesh_terms: D000293:Adolescent; D002155:Calsequestrin / Q000235:genetics* / Q000378:metabolism; D002423:Cause of Death / Q000639:trends; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000453:epidemiology / Q000517:prevention & control*; D017147:Defibrillators, Implantable; D004562:Electrocardiography; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D007557:Israel / Q000453:epidemiology; D008297:Male; D020125:Mutation, Missense; D011379:Prognosis; D017180:Tachycardia, Ventricular / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D013997:Time Factors; D055815:Young Adult; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
chemical_list: C443109:CASQ2 protein, human; D002155:Calsequestrin; D004247:DNA