Key result
CALM2 mutation linked to stress-induced OHCA and CPVT-like phenotype in a 2-year-old girl.
Case Report (n=1)
This case report describes the first Caucasian child with a CALM2 N98S mutation, presenting with a CPVT-like phenotype and highlighting diagnostic challenges in calmodulinopathy.
Supports CALM2 testing in unexplained pediatric arrests; extends phenotype to Caucasians but leaves management open.
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.
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Buratti et al. (2026) conducted a case report in Calmodulinopathy related to CALM2 N98S mutation (n=1). A 2-year-old Caucasian girl with a CALM2 p.Asn98Ser mutation survived out-of-hospital cardiac arrest after emotional stress, presenting with a CPVT-like phenotype.
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