Related Experiment Video
Updated: Jan 22, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Could two-dimensional radial strain be considered as a novel tool to identify pre-clinical hypertrophic
Gloria Maria Santambrogio1, Alessandro Maloberti2,3, Paola Vallerio2
1Cardiology, Cardiocentes A. De Gasperis Department, ASST GOM Niguarda Ca' Granda, Piazza ospedale maggiore 3, 20151, Milan, Italy. gloriamaria.santambrogio@ospedaleniguarda.it.
Insights
Early identification of hypertrophic cardiomyopathy (HCM) mutation carriers is crucial. Basal posterior and inferior Global Radial Strain (GRS) on echocardiography can identify individuals in pre-clinical stages, aiding preventative strategies.
Area of Science:
- Cardiology
- Genetics
- Medical Imaging
Background:
- Hypertrophic cardiomyopathy (HCM) treatment is challenging, emphasizing early detection to prevent left ventricular hypertrophy (LVH).
- Identifying mutation carriers before phenotypic manifestation is key for timely intervention.
Purpose of the Study:
- To identify an echocardiographic marker distinguishing HCM mutation carriers without LVH from healthy individuals.
- To assess the utility of 2D strain imaging in detecting pre-clinical HCM.
Main Methods:
- Echocardiography (2D, DTI, 2D-strain) was used to evaluate 28 patients from eight families with known HCM mutations (MYBPC3, MYH7, TNNT2).
- Patients were grouped into: carriers with LVH (G+/Ph+), carriers without LVH (G+/Ph-), and healthy controls (G-/Ph-).
- Global Longitudinal Strain (GLS) and Global Radial Strain (GRS) were measured at basal and mid-levels.
Main Results:
- Global Radial Strain (GRS) was significantly reduced in mutation carriers without LVH (Group B) compared to healthy controls (Group C) at the basal level (p < 0.0001).
- Basal posterior and inferior segments showed the most significant GRS differences, with high AUCs (0.931 and 0.861) on ROC analysis.
- Global Longitudinal Strain (GLS) did not differ significantly between groups.
Conclusions:
- Reduced basal posterior and inferior GRS can identify HCM mutation carriers in the pre-clinical phase.
- 2D strain imaging, particularly GRS, is a valuable tool for early HCM detection and risk stratification.
Abstract:
Treatment of overt form of hypertrophic cardiomyopathy (HCM) is often unsuccessful. Efforts are focused on a possible early identification in order to prevent or delaying the development of hypertrophy. Our aim was to find an echocardiographic marker able to distinguish mutation carriers without left ventricular hypertrophy (LVH) from healthy subjects. We evaluated 28 patients, members of eight families. Three types of mutation were recognized: MYBPC3 (five families), MYH7 (two families) and TNNT2 (one family). According to genetic (G) and phenotypic (Ph) features, patients were divided in three groups: Group A (10 patients), mutation carriers with LVH (G+/Ph+); Group B (9 patients), mutation carriers without LVH (G+/Ph-); Group C (9 patients), healthy subjects (G-/Ph-). Echocardiography examination was performed acquiring standard 2D, DTI and 2D-strain imaging. Global longitudinal strain (GLS) and global radial strain (GRS) at basal and mid-level were measured. GRS was significantly different between group B and C at basal level (32.18% ± 9.6 vs. 44.59% ± 12.67 respectively; p-value < 0.0001). In basal posterior and basal inferior segments this difference was particularly evident. ROC curves showed for both the involved segments good AUCs (0.931 and 0.861 for basal posterior and inferior GRS respectively) with the best predictive cut-off for basal posterior GRS at 43.65%, while it was 38.4% for basal inferior GRS. Conversely, GLS values were similar in the three group. 2D longitudinal strain is a valid technique to study HCM. Radial strain and particularly basal posterior and inferior segmental reduction could be able to identify mutation carriers in a pre-clinical phase of disease.
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Cardiomyopathy VII: Pre and Post Operative Nursing Management
Three-Dimensional Analysis of Strain
Electron Carriers
Over the many stages of cellular respiration, glucose breaks down into carbon dioxide and water. Electron carriers pick up electrons lost by glucose in these reactions, temporarily storing and releasing them into the electron...
Cardiomyopathy II: Dilated Cardiomyopathy
Mutations

