RYR2 p.R169L mutation and left ventricular hypertrophy in a child with emotion-triggered sudden death

Abstract

<jats:title>Abstract</jats:title><jats:p>Catecholaminergic polymorphic ventricular tachycardia is a rare (prevalence: 1/10,000) channelopathy characterised by exercise-induced or emotion-triggered ventricular arrhythmias. There is an overall paucity of genotype-phenotype correlation studies in patients with catecholaminergic polymorphic ventricular tachycardia, and in vitro and in vivo effects of individual mutations have not been well characterised. We report an 8-year-old child who carried a mutation in the coding exon 8 of <jats:italic>RYR2</jats:italic> (p.R169L) and presented with emotion-triggered sudden cardiac death. He was also found to have left ventricular hypertrophy, a combination which has not been reported before. We discuss the association between genetic variation in <jats:italic>RYR2</jats:italic>, particularly mutations causing replacement of arginine at position 169 of RYR2 and structural cardiac abnormalities.</jats:p>

Correction: “Ryanopathies” and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

“…The ECG findings were not reported. [ 33 , 34 ] SPRY1 R739H See findings of the L62F mutation. [ 31 ] P1 R1013Q, R1051P See findings of the L62F mutation.…”