Related Experiment Video

Updated: Jun 8, 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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Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy

Fernando de Frutos1,2,3,4, Juan Pablo Ochoa1,2,3,4, Gregory Webster5

  • 1Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro IDIPHISA Madrid Spain.

Journal of the American Heart Association
|November 4, 2024
PubMed

Insights

Pediatric dilated cardiomyopathy (DCM) caused by MYH7 gene variants often begins early in life and has a poor prognosis. Advanced New York Heart Association class and low left ventricular ejection fraction predict heart failure events.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Genetic variants in the MYH7 gene are the most common cause of pediatric genetic dilated cardiomyopathy (DCM).
  • Limited studies have described the clinical features and prognosis of pediatric MYH7-related DCM.
  • This study aims to characterize clinical presentations, analyze variant locations, and identify prognostic factors in this patient population.

Purpose of the Study:

  • To describe the clinical features of pediatric patients with MYH7-related DCM.
  • To analyze the location of MYH7 variants.
  • To identify predictors of poor prognosis in pediatric MYH7-related DCM.

Main Methods:

  • Retrospective analysis of clinical records from 44 pediatric patients (<18 years) with pathogenic/likely pathogenic MYH7 variants diagnosed with DCM.
  • Data collected from 13 international centers.
  • Risk factors for end-stage heart failure (heart transplantation or heart failure-related death) were explored.

Main Results:

  • Fifty percent of patients were diagnosed before 6 months of age, with 16% diagnosed at birth.
  • Left ventricular (LV) hypertrabeculation was present in 38% of patients, particularly those with variants in the MYH7 head domain.
  • At a median follow-up of 6.1 years, 36% of patients required heart transplantation or died from heart failure. Advanced New York Heart Association class (HR, 7.67) and LV ejection fraction ≤35% (HR, 4.00) were significant predictors of adverse outcomes.

Conclusions:

  • Pediatric MYH7-related DCM is characterized by early onset, frequent LV hypertrabeculation, and a generally poor prognosis.
  • Advanced New York Heart Association class and low LV ejection fraction are key predictors of end-stage heart failure.
  • These findings highlight the need for early diagnosis and intensive management strategies for affected children.
Abstract

Keywords:
MYH7dilated cardiomyopathygeneticspediatric

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