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

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All Authors

Buratti, G.
Elango, D.
Mohammed, AS.
Hares, D.

LTHT Author

Hares, Dominic

LTHT Department

Leeds Children's Hospital
Paediatric Cardiology
Congenital Cardiology

Non Medic

Publication Date

2026

Item Type

Journal Article

Language

Subject

HOSPITALISATION , GENETIC DISEASES, INBORN , MUTATION , ARRHYTHMIAS, CARDIAC , HEART ARREST

Subject Headings

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.

Journal

Cardiology in the Young