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
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