The Present and Future
JACC Review Topic of the Week
Echocardiographic Deformation Imaging for Early Detection of Genetic Cardiomyopathies: JACC Review Topic of the Week

https://doi.org/10.1016/j.jacc.2021.11.045Get rights and content
Under an Elsevier user license
open archive

Highlights

  • In the absence of overt cardiac abnormalities, screening relatives for genetic cardiomyopathies is challenging.

  • Disease-specific findings on echocardiographic deformation imaging may reveal early signs of disease in relatives of probands with dilated cardiomyopathy or arrhythmogenic cardiomyopathy.

  • Long-term follow-up studies of large cohorts are needed to determine the value of echocardiographic deformation imaging for predicting life-threatening adverse events in relatives of patients with genetic cardiomyopathies.

Abstract

Clinical screening of the relatives of patients with genetic cardiomyopathies is challenging, as they often lack detectable cardiac abnormalities at presentation. Life-threatening adverse events can already occur in these early stages of disease, so sensitive tools to reveal the earliest signs of disease are needed. The utility of echocardiographic deformation imaging for early detection has been explored for this population in multiple studies but has not been broadly implemented in clinical practice. The authors discuss contemporary evidence on the utility of deformation imaging in relatives of patients with genetic cardiomyopathies. The available body of data shows that deformation imaging reveals early disease-specific abnormalities in dilated cardiomyopathy, hypertrophic cardiomyopathy, and arrhythmogenic cardiomyopathy. Deformation imaging seems promising to enhance the screening and follow-up protocols in relatives, and the authors propose measures to accelerate its implementation in clinical care.

Key Words

deformation imaging
early detection
family screening
genetic cardiomyopathy
speckle tracking

Abbreviations and Acronyms

ACM
arrhythmogenic cardiomyopathy
DCM
dilated cardiomyopathy
GLS
global longitudinal strain
HCM
hypertrophic cardiomyopathy
LA
left atrium/atrial
LV
left ventricle/ventricular
LVEF
left ventricular ejection fraction
NCCM
noncompaction cardiomyopathy
RV
right ventricle/ventricular

Cited by (0)

Listen to this manuscript's audio summary by Editor-in-Chief Dr Valentin Fuster on JACC.org.

The authors attest they are in compliance with human studies committees and animal welfare regulations of the authors’ institutions and Food and Drug Administration guidelines, including patient consent where appropriate. For more information, visit the Author Center.

Drs Taha and Kirkels contributed equally to this work.