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Non-invasive prediction of genotype positive-phenotype negative in hypertrophic cardiomyopathy by 3D modern shape

Paolo Piras1, Concetta Torromeo1, Antonietta Evangelista2

  • 1Department of Scienze Cardiovascolari, Respiratorie, Nefrologiche, Anestesiologiche e Geriatriche, Sapienza Università di Roma, Rome, 00161, Italy.

Experimental Physiology
|August 20, 2019
PubMed

Insights

This study identifies subtle heart muscle impairments in individuals with hypertrophic cardiomyopathy (HCM) genotype but no hypertrophy using 3D echocardiography. This non-invasive method accurately detects early signs, aiding in early prediction and management.

Area of Science:

  • Cardiology
  • Medical Imaging
  • Biomechanical Analysis

Background:

  • Hypertrophic cardiomyopathy (HCM) diagnosis typically relies on left-ventricular hypertrophy (LVH).
  • Genotype-positive, normotrophic (G+LVH-) individuals may have subclinical myocardial changes.
  • Non-invasive imaging modalities are crucial for early detection.

Purpose of the Study:

  • To develop and validate a non-invasive method for detecting deformational impairments in G+LVH- subjects.
  • To assess the efficacy of 3D speckle tracking echocardiography (3D-STE) combined with shape analysis for G+LVH- prediction.
  • To investigate the specific patterns of myocardial impairment in G+LVH- individuals.

Main Methods:

  • Utilized 3D speckle tracking echocardiography (3D-STE) to capture left ventricular (LV) motion.
  • Employed advanced shape analysis techniques on post-processed echocardiographic images.
  • Analyzed LV strains to identify impaired regions and classified subjects based on deformational attributes.

Main Results:

  • G+LVH- subjects exhibited distinct LV motion trajectories and deformational attributes compared to controls.
  • The method achieved high classification performance (AUC ~90%, sensitivity ~78%, specificity ~79%).
  • Deformational impairments were primarily localized in the apical region of the LV.

Conclusions:

  • G+LVH- subjects demonstrate significant myocardial deformational impairments.
  • Modern shape analysis of 3D-STE data offers an efficient, non-invasive, and cost-effective approach for predicting HCM genotype.
  • Early detection of subclinical changes in G+LVH- individuals is feasible.

Keywords:
3D echocardiographygeneticsgenotype positivehypertrophic cardiomyopathymodern shape analysis

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