Related Experiment Video

Updated: Aug 14, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

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

Published on: August 8, 2022

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Prenatal Diagnosis of Isolated Right Ventricular Non-Compaction Cardiomyopathy with an MYH7 Likely Pathogenic Variant

Weiming Yu1,2, Mary Ann Thomas3,2, Lindsay Mills4

  • 1Departments of Pathology & Laboratory Medicine, Cumming School of Medicine, University of Calgary, Alberta, Canada.

Fetal and Pediatric Pathology
|January 11, 2023
PubMed

Insights

Isolated right ventricular noncompaction, a rare heart condition, was diagnosed in a fetus. This case links the condition to a MYH7 gene mutation, offering new insights into congenital heart defects.

Area of Science:

  • Cardiology
  • Genetics
  • Developmental Biology

Background:

  • Noncompaction of ventricular myocardium is a rare cardiomyopathy.
  • It primarily affects the left or both ventricles, often linked to sarcomere protein gene mutations.
  • Isolated right ventricular noncompaction is poorly understood, with limited case reports.

Observation:

  • A 30-year-old woman experienced fetal loss at 19 weeks gestation.
  • Ultrasound revealed fetal right ventricular and tricuspid valve abnormalities, ascites, and hydrops.
  • Autopsy confirmed isolated right ventricular noncompaction with a dysplastic tricuspid valve.

Findings:

  • Histologic examination confirmed isolated right ventricular noncompaction.
  • Whole exome sequencing identified a likely pathogenic variant in the MYH7 gene.
  • This represents the first reported case of isolated right ventricular noncompaction associated with a gene mutation.

Implications:

  • This study presents the first fetal diagnosis of isolated right ventricular noncompaction.
  • The findings suggest MYH7 gene variants may play a role in isolated right ventricular noncompaction.
  • This case expands the understanding of noncompaction cardiomyopathies and their genetic underpinnings.

Keywords:
Fetal autopsyMYH7 mutationnoncompaction of ventricular myocardiumprenatal diagnosisright ventricular noncompaction

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