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Case Report: Loss-of-function TRPM4 mutation p.L91Δ implicated in progressive cardiac conduction defect

Anne-Flore Hämmerli1, Daniela Ross-Kaschitza1, Prakash Arullampalam1

  • 1Institute of Biochemistry and Molecular Medicine, and Swiss National Centre of Competence in Research (NCCR) TransCure, University of Bern, Bern, Switzerland.

Frontiers in Physiology
|November 6, 2025
PubMed
Summary

A novel TRPM4 gene deletion, p.L91Δ, identified in patients with cardiac defects, significantly reduces TRPM4 channel expression and function. This discovery highlights TRPM4’s role in progressive cardiac conduction defects (PCCDs).

Keywords:
TRPM4calcium-activated non-specific cation channelcardiac conduction defectsinherited channelopathyloss-of-function mutation

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