Echocardiographic Deformation Imaging for Early Detection of Genetic Cardiomyopathies: JACC Review Topic of the Week
Taha, Karim; Kirkels, Feddo P.; Teske, Arco J.; Asselbergs, Folkert W.; van Tintelen, J. Peter; Doevendans, Pieter A.; Kutty, Shelby; Haugaa, Kristina H.; Cramer, Maarten J.
(2022) Journal of the American College of Cardiology, volume 79, issue 6, pp. 594 - 608
(Article)
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
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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.
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Keywords: deformation imaging, early detection, family screening, genetic cardiomyopathy, speckle tracking, Echocardiography/methods, Humans, Cardiomyopathies/diagnosis, Early Diagnosis, Cardiology and Cardiovascular Medicine, Review, Research Support, Non-U.S. Gov't, Journal Article
ISSN: 0735-1097
Publisher: Elsevier USA
Note: Funding Information: This work was supported by the Netherlands Cardiovascular Research Initiative, an initiative with support of the Dutch Heart Foundation (2015-12 eDETECT; 2018-30 PREDICT2), the PLN Genetic Heart Disease Foundation, the Leducq Foundation (CurePLaN consortium), and the Norwegian research council (ProCardio, Grant #309762). Dr Asselbergs was supported by University College London Hospitals NIHR Biomedical Research Centre. Dr Kutty has served as a consultant for GE Healthcare and as a scientific advisor for OP2 Drugs. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose. Publisher Copyright: © 2022 American College of Cardiology Foundation
(Peer reviewed)