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

Cardiology in the Young
Utkarsh KohliHemal M Nayak

Abstract

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 RYR2 (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 RYR2, particularly mutations causing replacement of arginine at position 169 of RYR2 and structural cardiac abnormalities.

References

May 21, 2008·Circulation·Bethany J FosterSteven D Colan
Feb 3, 2011·European Heart Journal·Erwin Oechslin, Rolf Jenni
Nov 6, 2014·Acta Crystallographica. Section D, Biological Crystallography·Lubomír BorkoJozef Sevčík
Feb 6, 2017·Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology·Thomas M RostonShubhayan Sanatani

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