The first case of a Caucasian child with calmodulinopathy related to CALM2 N98S mutation

Cardiology in the Young 2026

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Authors: Giacomo Buratti, Dhivya Elango, Ahmed Shakir Mohammed, Dominic Hares
DOI: 10.1017/s104795112511072x
Cited by: 1
References: 7

Abstract

We report the first Caucasian patient with CALM2 p. Asn98Ser, a 2-year-old girl who survived out-of-hospital cardiac arrest after emotional stress. The initial rhythm was broad-complex tachycardia degenerating into ventricular fibrillation. Normal QT intervals and absent structural disease suggest a CPVT-like presentation, highlighting diagnostic and management challenges in calmodulinopathy.

Fields of Study & Subjects

Cardiac electrophysiology and arrhythmias Cardiomyopathy and Myosin Studies Genomics and Rare Diseases

Publication details

Journal / source
Cardiology in the Young
Publisher
Cambridge University Press (CUP)
Volume
36
Issue
2
Pages
400–403
Publication date
1 February 2026
Language
EN