Related Experiment Video

Updated: Sep 30, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Mutation of the MYL3 gene in a patient with mid-ventricular obstructive hypertrophic cardiomyopathy

Akash Mavilakandy1, Hisham Ahamed2

  • 1Department of General Medicine, University Hospitals of Leicester NHS Trust, Leicester, UK am1138@leicester.ac.uk.

BMJ Case Reports
|March 15, 2022
PubMed

Insights

A rare myosin light chain 3 (MYL3) gene mutation caused left ventricular hypertrophy and aneurysm in a patient. This finding highlights a novel association and increased risk for sudden cardiac death.

Area of Science:

  • Cardiology
  • Genetics
  • Cardiovascular Imaging

Background:

  • Familial hypertrophic cardiomyopathy is often linked to genetic mutations.
  • Left ventricular hypertrophy can lead to obstructive complications.
  • Sudden cardiac death is a significant risk in certain cardiac conditions.

Observation:

  • A female patient presented with left ventricular hypertrophy, mid-cavitary obstruction, and apical aneurysm.
  • Normal coronary arteries contrasted with recurrent cerebrovascular events and a family history of sudden cardiac death.
  • Cardiac MRI revealed obstruction, aneurysm, and delayed gadolinium enhancement; Holter monitoring showed non-sustained ventricular tachycardia.

Findings:

  • Genetic analysis identified a mutation in the myosin light chain 3 (MYL3) gene.
  • This MYL3 mutation is a rare cause of familial hypertrophic cardiomyopathy.
  • A left ventricular apical aneurysm has not been previously associated with MYL3 mutations.

Implications:

  • The identified MYL3 mutation and apical aneurysm represent a novel finding in hypertrophic cardiomyopathy.
  • This combination of abnormalities may indicate an elevated risk of sudden cardiac death.
  • Patients with this mutation may require close monitoring and potentially an implantable cardioverter defibrillator.

Keywords:
arrhythmiascardiovascular medicinegenetic screening / counsellinggenetics

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