Bakalakos, Athanasios;
Monda, Emanuele;
Elliott, Perry Mark;
(2024)
The diagnostic and therapeutic implications of phenocopies and mimics of Hypertrophic Cardiomyopathy.
Canadian Journal of Cardiology
10.1016/j.cjca.2024.02.025.
(In press).
Preview |
Text
1-s2.0-S0828282X24001909-main.pdf Download (2MB) | Preview |
Abstract
Hypertrophic cardiomyopathy (HCM) is a common myocardial disease defined by increased left ventricular wall thickness unexplained by loading conditions. It is frequently 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.
| Type: | Article |
|---|---|
| Title: | The diagnostic and therapeutic implications of phenocopies and mimics of Hypertrophic Cardiomyopathy |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.cjca.2024.02.025 |
| Publisher version: | https://doi.org/10.1016/j.cjca.2024.02.025 |
| Language: | English |
| Additional information: | Copyright 2024 The Authors. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
| Keywords: | hypertrophic cardiomyopathy, phenocopies, amyloidosis, glycogen storage disease, Fabry’s disease, RASopathies |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Clinical Science |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10189360 |
Archive Staff Only
 |
View Item |
