Related Experiment Video

Updated: Jan 8, 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

4.1K

Clinical characteristics of 41 children with hypertrophic cardiomyopathy: A single-center retrospective study

Shi-Guang Li1,2, Chang-Qing Wei3, Dan-Yan Su1

  • 1Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, China.

The Journal of International Medical Research
|December 11, 2025
PubMed

Insights

Pediatric hypertrophic cardiomyopathy shows diverse clinical and genetic features. Early screening and genetic testing are vital for accurate diagnosis and personalized treatment in children.

Area of Science:

  • Cardiology
  • Pediatrics
  • Genetics

Background:

  • Hypertrophic cardiomyopathy (HCM) is a complex cardiac condition affecting children.
  • Understanding its clinical, genetic, and etiological diversity is crucial for management.

Purpose of the Study:

  • To analyze clinical characteristics, genetic variations, and survival in pediatric HCM patients.
  • To compare primary versus secondary HCM in children.

Main Methods:

  • Retrospective review of 41 pediatric HCM cases (2013-2024).
  • Analysis of clinical data, echocardiography, ECG, and genetic testing.
  • Kaplan-Meier survival analysis.

Main Results:

  • Genetic testing identified primary and secondary HCM, with Noonan syndrome being common.
  • Fatigue and dyspnea were frequent symptoms; MYH7 and MYBPC3 were common pathogenic genes.
  • No significant differences in clinical or imaging findings between primary and secondary HCM groups; median survival was 61.4 months.

Conclusions:

  • Pediatric HCM exhibits significant heterogeneity in presentation and genetics.
  • Improved early screening and genetic testing can enhance diagnosis and guide individualized care.

Keywords:
Hypertrophic cardiomyopathychildrenclinical evaluationgene mutationprognosis

More Related Videos

Isolation and Functional Characterization of Human Ventricular Cardiomyocytes from Fresh Surgical Samples14:39

Isolation and Functional Characterization of Human Ventricular Cardiomyocytes from Fresh Surgical Samples

Published on: April 21, 2014

17.8K
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

6.1K

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...
362
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...
479
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...
313
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
436
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

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...
426
Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
194