Identification of Arrhythmia-Associated Gene Mutations in Chinese Patients with Primary Electrical Disorders or Sudden Cardiac Death

Announcing a new article publication for Cardiovascular Innovations and Applications journal. Sudden cardiac death (SCD), unexpected death based on sudden cardiac ejection cessation, accounts for 15–20% of unnatural deaths in developed countries. Primary electrical disorders (PEDs), a group of cardiac rhythm abnormalities without detectable structural heart disease, are a major cause of SCD in people younger than 35 years of age. Cardiac muscle contraction and relaxation are triggered by the action potential (AP), which is generated by ionic changes across the cell membrane. Thus, PEDs are influenced by mutations in AP-associated genes, such as KCNE1 and RYR2.

Six patients with SCD and 42 patients with arrhythmia with onset under the age of 25 were recruited, and targeted sequencing was used to determine the genetic etiologies.

Five mutations (RYR2: c.12269C>T, p.P4090L; KCNE1: c.169T>C, p.F57L; KCNQ1: c.853A>C, p.K285Q; KCNH2: c.793T>C, p.C265R, and TRPM4: c.2985_3012del, p.E996Gfs*118) were identified in five families with PED/SCD.

Five mutations were detected and the mutation spectrum of PED-associated genes was expanded, thus contributing to the clinical diagnosis of PED.

Get full research article at: https://www.scienceopen.com/hosted-document?doi=10.15212/CVIA.2024.0018

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Yuxing Liu, Yiqiao Hu and Siyuan Zhang et al. Identification of Arrhythmia-Associated Gene Mutations in Chinese Patients with Primary Electrical Disorders or Sudden Cardiac Death. CVIA. 2024. Vol. 9(1). DOI: 10.15212/CVIA.2024.0018