Related Experiment Video

Updated: Feb 20, 2026

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

4.3K

Utility of genetics for risk stratification in pediatric hypertrophic cardiomyopathy

J Mathew1, L Zahavich2, M Lafreniere-Roula2

  • 1Cardiology Department, The Royal Children's Hospital, Melbourne, Victoria, Australia.

Clinical Genetics
|October 21, 2017
PubMed

Insights

Genetic factors like the specific gene involved, the number of variants, and whether they are de novo significantly impact outcomes in children with hypertrophic cardiomyopathy (HCM). These factors predict earlier disease onset and increased risk of major adverse cardiac events (MACE).

Area of Science:

  • Genetics
  • Cardiology
  • Pediatrics

Background:

  • Hypertrophic cardiomyopathy (HCM) in children can lead to sudden cardiac death (SCD) and other severe events.
  • Identifying predictive factors for adverse outcomes is crucial for managing pediatric HCM.

Purpose of the Study:

  • To assess if the specific affected gene and the burden of genetic variants predict outcomes in pediatric patients with HCM.
  • To evaluate the association between genetic factors and major adverse cardiac events (MACE) in children with HCM.

Main Methods:

  • Included pediatric patients (<18 years) with primary HCM and pathogenic or uncertain significance variants in cardiomyopathy genes.
  • Used Cox regression to analyze the association of gene number/type with freedom from MACE (ICD insertion, myectomy, aborted SCD, transplantation, or death).

Main Results:

  • Of 155 gene-tested patients, 98 carried non-benign variants. MYH7 and MYBPC3 were the most common affected genes.
  • MYH7+ patients showed earlier onset and higher MACE risk (HR 2.7).
  • Multiple variants (HR 2.5) and de novo variants (HR 5.7) were associated with increased MACE risk compared to single or inherited variants, respectively.

Conclusions:

  • Affected gene (e.g., MYH7), higher variant burden, and de novo variant status are independent predictors of earlier onset and more frequent adverse outcomes in pediatric HCM.
  • Genetic risk stratification is essential for managing children with HCM.

Keywords:
geneticshypertrophic cardiomyopathymyectomymyosinpediatricssudden death

More Related Videos

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level06:02

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level

Published on: November 2, 2020

6.2K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.4K

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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...
545
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
27
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
501
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
654