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

Published online by Cambridge University Press:  09 June 2020

Utkarsh Kohli Open the ORCID record for Utkarsh Kohli [Opens in a new window] ,
Lisa Kuntz  and
Hemal M. Nayak
Utkarsh Kohli*
Affiliation:
Section of Pediatric Cardiology, Department of Pediatrics, Comer Children’s Hospital and Pritzker School of Medicine of the University of Chicago, Chicago, IL, USA
Lisa Kuntz
Affiliation:
Divisions of Pediatric Critical Care, Cardiology and Cardiac Surgery, Department of Pediatrics, Pritzker School of Medicine of the University of Chicago, Chicago, IL, USA
Hemal M. Nayak
Affiliation:
Center for Arrhythmia Care, Heart & Vascular Center, Pritzker School of Medicine of the University of Chicago, Chicago, IL, USA
*
Author for correspondence: Utkarsh Kohli, Assistant Professor of Pediatrics, Section of Pediatric Cardiology, Department of Pediatrics, University of Chicago, 5481 S Maryland Ave., RM-C104E, MC 4051, Chicago, IL60637, USA. Tel: +1 773-702-6172; Fax: +1 773 702 2319. E-mail: ukohli@peds.bsd.uchicago.edu
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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.

Keywords

Catecholaminergic polymorphic ventricular tachycardiaemotion-triggered sudden deathleft ventricular hypertrophyRYR2 p.R169L mutation
Type
Brief Report
Information
Cardiology in the Young , Volume 30 , Issue 7 , July 2020 , pp. 1039 - 1042
Copyright
© The Author(s), 2020. Published by Cambridge University Press

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