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1 results

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

  • Utkarsh Kohli, Lisa Kuntz, Hemal M. Nayak
  • Journal:
    Cardiology in the Young / Volume 30 / Issue 7 / July 2020
    Published online by Cambridge University Press:
    09 June 2020, pp. 1039-1042

  • 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.