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Ankyrin-2 genetic variants: A case of Ankyrin-B syndrome

Jin Song1, Bryan Richard Sasmita1, GuoLan Deng1

  • 1Department of Cardiology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc
|February 28, 2022
PubMed

Insights

Inherited cardiac arrhythmias (ICA) are a major cause of sudden death in young adults. A specific ankyrin-2 gene variant can trigger dangerous ventricular arrhythmias, especially during exercise or stress.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Inherited cardiac arrhythmias (ICA) are a significant cause of sudden cardiac death (SCD) in individuals under 40.
  • Genetic variants in ankyrin-B and ankyrin-2 genes are implicated in various cardiac arrhythmias, from sinus node dysfunction to life-threatening events.

Observation:

  • This case study focuses on a patient with a specific ankyrin-2 gene variant.
  • The variant's impact on cardiac function was observed, particularly its association with inducible arrhythmias.

Findings:

  • A typical ankyrin-2 variant was identified in the patient.
  • Ventricular tachyarrhythmias were reproducibly triggered by exercise and stress tests in the presence of this variant.

Implications:

  • This finding highlights the critical role of the ankyrin-2 gene in cardiac electrical stability.
  • Understanding this variant's mechanism may lead to improved diagnostic and therapeutic strategies for inherited arrhythmias.
  • Early identification and management of individuals with ankyrin-2 variants could mitigate the risk of sudden cardiac death.

Keywords:
Ankyrin-B syndromeankyrin 2genetic mutationsinherited cardiac arrhythmias

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