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October 1, 2012The American Journal of Human GeneticsOpen Access

Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death

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Why the study?

Do mutations in the calmodulin gene (CALM1) cause catecholaminergic polymorphic ventricular tachycardia (CPVT)?

Population

A large Swedish family with a severe dominantly inherited form of CPVT-like arrhythmias, and an individual…

Design

Other

Authors

MNMette NyegaardMOMichael T. OvergaardMSMads T. Søndergaard

Discussion

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Overview

May support CALM1 testing in unexplained CPVT; extends genetic etiology and leaves prevalence and penetrance open.

Structured PICO

Do mutations in the calmodulin gene (CALM1) cause catecholaminergic polymorphic ventricular tachycardia (CPVT)?

P
Population
A large Swedish family with a severe dominantly inherited form of CPVT-like arrhythmias, and an individual of Iraqi origin from a screening of 61 arrhythmia samples with no identified RYR2 mutations.
I
Intervention
Genome-wide linkage analysis, sequencing of CALM1, and functional calcium-binding assays.
O
Outcome
Identification of disease-causing genetic mutations and their functional effects on calcium binding and RYR2 interaction.surrogate

Mutations in the CALM1 gene encoding calmodulin can cause severe cardiac arrhythmias like CPVT, making it a candidate for genetic screening in idiopathic ventricular tachycardia.

Cite This Study

Nyegaard et al. (2012) studied this question.

synapsesocial.com/papers/6a053f7a4b24269796380794https://doi.org/10.1016/j.ajhg.2012.08.015
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A Rare Case Report of Catecholaminergic Polymorphic Ventricular Tachycardia with an Uncommon <i>CALM2</i> Mutation2024 · 1 citations
  2. 2Novel CPVT-Associated Calmodulin Mutation in <i>CALM3</i> (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks2016 · 88 citations
  3. 3Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders2016 · 40 citations
  4. 4A Rare Case of RYR2 Mutation Causing Sudden Cardiac Arrest Due to Catecholaminergic Polymorphic Ventricular Tachycardia2021 · 9 citations
  5. 5CPVT-associated calmodulin variants N53I and A102V dysregulate Ca2+ signalling via different mechanisms2021 · 14 citations