Next-generation sequencing can identify RyR2 mutations in patients with CPVT who present atypically with prolonged QT intervals and are initially misdiagnosed with mutation-negative long QT syndrome.
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Prolonged QT may mask CPVT in young patients; leaves open whether expanded NGS panels improve diagnosis over LQTS-focused testing.
Catecholaminergic polymorphic ventricular tachycardia ( CPVT ) is one of the leading causes of sudden arrhythmic death in the young. The QT interval in CPVT patients is typically within the normal range. However, those with prolonged QT interval have often been diagnosed with mutation‐negative long QT syndrome ( LQTS ). We report three CPVT patients with prolonged QT interval. Case 1 and 2 were diagnosed as LQTS at first. Genetic test using next‐generation sequencing ( NGS ) revealed RyR2 mutations. We should consider genetic test using NGS to identify the genes responsible for CPVT in mutation‐negative LQTS .
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Saito et al. (2018) studied this question.
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