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Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

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Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
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Mitral Valve Prolapse I: Introduction01:27

Mitral Valve Prolapse I: Introduction

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IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
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Related Experiment Video

Updated: Jan 12, 2026

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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
This summary is machine-generated.

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).

Area of Science:

  • Cardiovascular Genetics
  • Ion Channel Physiology

Background:

  • TRPM4 channels are crucial for membrane depolarization in cardiomyocytes and Purkinje cells.
  • Genetic mutations in TRPM4 are linked to familial progressive cardiac conduction defects (PCCDs).
Keywords:
TRPM4calcium-activated non-specific cation channelcardiac conduction defectsinherited channelopathyloss-of-function mutation

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