Reports a novel RYR2 mutation causing CPVT in a 4-year-old, highlighting that short-acting beta-2 agonists may trigger initial cardiac events in susceptible individuals.
Novel CPVT observation may guide individualized evaluation; leaves open validation before practice change.
Catecholaminergic polymorphicic ventricular tachycardia (CPVT) is a genetically determined arrhythmic disorder characterized by bidirectional and polymorphic dysrhythmias. Physical and/or emotional stress may trigger tachycardia, which can lead to sudden cardiac death. If not treated, CPVT has a high mortality rate of up to 31% by the age of 30 years. The prevalence of CPVT is estimated to be 1:10.000. Mutations of the ryanodine receptor 2, calsequestrin 2 and, less frequently, triadin and calmodulin are found in CPVT patients. We report the case of a four-year old boy with an unreported de novo mutation in the ryanodine receptor 2 (RYR2) confirmed by genetic sequencing. Interestingly, the first cardiac event of our patient was potentially be favoured by inhalative treatment with a short-acting beta-2 agonist.
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Malin Zaddach (2023) studied this question.
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