Related Experiment Video
Updated: May 5, 2026
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Early changes in apical rotation in genotype positive children with hypertrophic cardiomyopathy mutations without
Jonathan Forsey1, Lee Benson1, Evelyn Rozenblyum1
1Labatt Family Heart Centre, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Insights
Early detection of hypertrophic cardiomyopathy (HCM) in children is possible. Increased left ventricular (LV) rotation and twist, measured by echocardiography, can predict HCM before physical changes occur.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Hypertrophic cardiomyopathy (HCM) is a common inherited heart condition.
- Genetic testing identifies carriers without visible heart changes.
- Early detection of HCM is crucial for management.
Purpose of the Study:
- To identify early changes in left ventricular (LV) function in children with HCM before hypertrophy develops.
- To assess the utility of echocardiography in detecting preclinical HCM.
Main Methods:
- Compared 14 genotype-positive, phenotype-negative pediatric HCM patients with healthy controls.
- Utilized comprehensive echocardiography, including Doppler tissue imaging and 2D speckle-tracking.
- Analyzed LV dimensions, velocities, strain, rotation, and twist.
Main Results:
- No differences in LV size or shortening fraction were observed.
- Reduced septal velocities (A') noted in the HCM group.
- Increased apical rotation and LV twist were significant findings in HCM patients.
- Apical rotation > 7° showed 83% sensitivity and 82% specificity for predicting HCM.
Conclusions:
- Genotype-positive, phenotype-negative HCM is associated with increased LV rotation and twist.
- Apical rotation via speckle-tracking echocardiography is a potential early biomarker for HCM.
- This method may aid in early diagnosis before hypertrophy onset.
Background:
Hypertrophic cardiomyopathy (HCM) is the most common form of inherited cardiomyopathy. Echocardiography is the mainstay of screening and disease surveillance, and genetic testing has identified a carrier population without hypertrophy. The aim of this study was to investigate whether changes in left ventricular (LV) function are detectable before the advent of hypertrophy.
Methods:
Fourteen children with genotype-positive, phenotype-negative HCM were identified (12 male; median age, 9.14 years; range, 1.91-15.9 years; median weight, 34.6 kg; range, 15-92.1 kg) and compared with age-matched and sex-matched healthy controls. All children underwent full echocardiographic studies using an extensive functional protocol, including two-dimensional dimensions, Doppler tissue imaging, and two-dimensional speckle-tracking echocardiography.
Results:
There were no differences in LV wall thickness, chamber dimensions, length, and shortening fraction between the groups. Doppler tissue imaging in children with HCM demonstrated mildly reduced septal velocities, notably A' (5.9 cm/sec [range, 4-8.9 cm/sec] vs 6.7 cm/sec [range, 5.2-9.5 cm/sec]; P = .009). Circumferential and longitudinal strain was similar between groups. Mean apical circumferential deformation was increased in the HCM group (-24.6 ± 3.8% vs -22.2 ± 2.5%, P = .04). There were significant increases in basal and apical rotation and LV twist in children with HCM, most marked at the apex (11.7 ± 4.4° vs 5.3 ± 2.5°, P = .0001). On receiver operating characteristic curve analysis, apical rotation > 7° conferred 83% sensitivity and 82% specificity for predicting HCM (area under the curve, 0.919; P = .0001).
Conclusions:
Increased LV rotation and twist are present in children with genotype-positive, phenotype-negative HCM. Apical rotation on speckle-tracking echocardiography provides good sensitivity and specificity for the prediction of gene-positive HCM and may be a clinically useful early marker of HCM before the onset of hypertrophy.
More Related Videos
Related Concept Videos
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
01:25Cardiomyopathy I: Introduction and Classification
01:23Mitral Stenosis II: Clinical features and Diagnostic Tests
01:22Aortic Regurgitation II: Clinical Features and Diagnostic Tests