The Diagnostic and Therapeutic Implications of Phenocopies and Mimics of Hypertrophic Cardiomyopathy

Athanasios Bakalakos; Emanuele Monda; Perry Mark Elliott

doi:10.1016/j.cjca.2024.02.025

The Diagnostic and Therapeutic Implications of Phenocopies and Mimics of Hypertrophic Cardiomyopathy

Can J Cardiol. 2024 Mar 4:S0828-282X(24)00190-9. doi: 10.1016/j.cjca.2024.02.025. Online ahead of print.

Authors

Athanasios Bakalakos¹, Emanuele Monda², Perry Mark Elliott³

Affiliations

¹ Institute of Cardiovascular Science, University College London, London, United Kingdom.
² Institute of Cardiovascular Science, University College London, London, United Kingdom; Department of Translational Medical Sciences, Inherited and Rare Cardiovascular Diseases, University of Campania "Luigi Vanvitelli," Naples, Italy.
³ Institute of Cardiovascular Science, University College London, London, United Kingdom. Electronic address: perry.elliott@ucl.ac.uk.

PMID: 38447917
DOI: 10.1016/j.cjca.2024.02.025

Abstract

Hypertrophic cardiomyopathy (HCM) is a common myocardial disease defined by increased left ventricular wall thickness unexplained by loading conditions. HCM frequently is caused by pathogenic variants in sarcomeric protein genes, but several other syndromic, metabolic, infiltrative, and neuromuscular diseases can result in HCM phenocopies. This review summarizes the current understanding of these HCM mimics, highlighting their importance across the life course. The central role of a comprehensive, multiparametric diagnostic approach and the potential of precision medicine in tailoring treatment strategies are emphasized.

Publication types

Review