Patients with CPVT and a large RYR2 exon 3 deletion may exhibit refractoriness to nadolol and flecainide, necessitating early consideration of sympathectomy and ICD implantation, as well as regular cardiac imaging for structural abnormalities.
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Early invasive options may be warranted in refractory RYR2 exon 3 deletion CPVT; leaves open genotype-specific refractoriness pending larger cohorts.
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.
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Kohli et al. (2019) studied this question.
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