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A large deletion in RYR2 exon 3 is associated with nadolol and flecainide refractory catecholaminergic polymorphic ventricular tachycardia
Author(s) -
Kohli Utkarsh,
Aziz Zaid,
Beaser Andrew D.,
Nayak Hemal M.
Publication year - 2019
Publication title -
pacing and clinical electrophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.686
H-Index - 101
eISSN - 1540-8159
pISSN - 0147-8389
DOI - 10.1111/pace.13668
Subject(s) - catecholaminergic polymorphic ventricular tachycardia , medicine , flecainide , cardiology , ryanodine receptor 2 , nadolol , refractory (planetary science) , cardiomyopathy , ventricular tachycardia , tachycardia , implantable cardioverter defibrillator , refractory period , heart failure , atrial fibrillation , physics , ryanodine receptor , astrobiology , propranolol , calcium
We report a 17‐year‐old boy with a large RYR2 exon 3 deletion who has a severe catecholaminergic polymorphic ventricular tachycardia (CPVT) phenotype characterized by refractoriness to both nadolol and flecainide which has previously not been reported in this subgroup of CPVT patients. Treatment options in a patient like ours are therefore limited and sympathectomy and implantable cardioverter‐defibrillator implantation should be considered early in the treatment course as was done in this patient. In contrast to other CPVT patients who do not usually have structural cardiac abnormalities, these patients are at a high risk of developing left ventricular noncompaction or dilated cardiomyopathy and therefore might benefit from cardiac imaging at regular intervals.