Related Experiment Video

Updated: Jan 15, 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

4.2K

Characterisation and prognostic implications of the 12-lead electrocardiogram in children with RASopathy-associated

Olga Boleti1,2, Angela Sunjaya1, Ella Field1,2

  • 1Centre for Paediatric Inherited and Rare Cardiovascular Disease, Institute of Cardiovascular Science, University College London, London, UK.

Heart (British Cardiac Society)
|October 7, 2025
PubMed

Insights

The 12-lead ECG can help distinguish RAS-associated hypertrophic cardiomyopathy (RAS-HCM) from sarcomeric HCM (s-HCM) in children. ST segment changes over 2mm on ECG predict major adverse cardiovascular events (MACE) in RAS-HCM patients.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Hypertrophic cardiomyopathy (HCM) is a significant concern in pediatric cardiology.
  • RAS-associated HCM (RAS-HCM) presents unique diagnostic challenges compared to sarcomeric HCM (s-HCM).
  • The 12-lead electrocardiogram (ECG) is a foundational diagnostic tool in cardiovascular assessment.

Purpose of the Study:

  • To characterize ECG findings in children with RAS-HCM.
  • To compare ECG features between RAS-HCM and s-HCM.
  • To identify ECG predictors of major adverse cardiovascular events (MACE) in pediatric RAS-HCM.

Main Methods:

  • Retrospective cohort study comparing 84 children with RAS-HCM to 113 with s-HCM.
  • Analysis of resting 12-lead ECGs for specific waveform characteristics and measurements.
  • Median follow-up of 6.8 years to assess MACE incidence and correlate with ECG findings.

Main Results:

  • RAS-HCM showed significantly higher rates of superior axis deviation and right ventricular hypertrophy criteria compared to s-HCM.
  • RAS-HCM had a lower prevalence of pathological Q waves than s-HCM.
  • ST segment changes >2mm on ECG were an independent predictor of MACE in RAS-HCM (aRR 2.33).

Conclusions:

  • The 12-lead ECG can aid in differentiating RAS-HCM from s-HCM in pediatric populations.
  • Specific ECG findings, particularly ST segment changes, may predict adverse cardiovascular outcomes in children with RAS-HCM.
  • ECG analysis holds potential for risk stratification in pediatric RAS-HCM.
Abstract

More Related Videos

Rat Model of Right-Sided Cardiac Remodeling and Arrhythmia Using Pulmonary Artery Banding10:39

Rat Model of Right-Sided Cardiac Remodeling and Arrhythmia Using Pulmonary Artery Banding

Published on: August 30, 2024

1.3K
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

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...
401
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
482
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...
453
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...
502
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,...
468
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
433