Population
12 patients with genotype-negative but clinically diagnosed CPVT, and in vitro cardiomyocyte models
Comparison
Mutational analysis of CALM1, CALM2, and CALM3… vs Wild-type CaM and long QT syndrome D96V-CaM
Design
Preclinical
Key result
A novel CALM3-A103V mutation was identified in 8% of genotype-negative CPVT patients and promoted spontaneous arrhythmogenic calcium waves and sparks in vitro.
Authors
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May warrant CALM3 inclusion in CPVT panels; leaves open clinical utility pending further validation.
Observational (n=12)
The discovery of the CALM3-A103V mutation expands the genetic basis of CPVT and demonstrates that a small proportion of mutant CaM is sufficient to cause arrhythmogenic calcium disturbances.
Gómez‐Hurtado et al. (2016) conducted an observational in genotype-negative catecholaminergic polymorphic ventricular tachycardia (CPVT) (n=12). CALM3-A103V mutation vs. Wild-type CaM was evaluated on Identification of CaM mutations. A novel CALM3-A103V mutation was identified in 8% of genotype-negative CPVT patients and promoted spontaneous arrhythmogenic calcium waves and sparks in vitro.