Revisiting Diagnosis and Treatment of Hypertrophic Cardiomyopathy : Current Practice and Novel Perspectives
(2023) In Journal of Clinical Medicine 12(17).- Abstract
Sarcomeric hypertrophic cardiomyopathy (HCM) is a prevalent genetic disorder characterised by left ventricular hypertrophy, myocardial disarray, and an increased risk of heart failure and sudden cardiac death. Despite advances in understanding its pathophysiology, treatment options for HCM remain limited. This narrative review aims to provide a comprehensive overview of current clinical practice and explore emerging therapeutic strategies for sarcomeric HCM, with a focus on cardiac myosin inhibitors. We first discuss the conventional management of HCM, including lifestyle modifications, pharmacological therapies, and invasive interventions, emphasizing their limitations and challenges. Next, we highlight recent advances in molecular... (More)
Sarcomeric hypertrophic cardiomyopathy (HCM) is a prevalent genetic disorder characterised by left ventricular hypertrophy, myocardial disarray, and an increased risk of heart failure and sudden cardiac death. Despite advances in understanding its pathophysiology, treatment options for HCM remain limited. This narrative review aims to provide a comprehensive overview of current clinical practice and explore emerging therapeutic strategies for sarcomeric HCM, with a focus on cardiac myosin inhibitors. We first discuss the conventional management of HCM, including lifestyle modifications, pharmacological therapies, and invasive interventions, emphasizing their limitations and challenges. Next, we highlight recent advances in molecular genetics and their potential applications in refining HCM diagnosis, risk stratification, and treatment. We delve into emerging therapies, such as gene editing, RNA-based therapies, targeted small molecules, and cardiac myosin modulators like mavacamten and aficamten, which hold promise in modulating the underlying molecular mechanisms of HCM. Mavacamten and aficamten, selective modulators of cardiac myosin, have demonstrated encouraging results in clinical trials by reducing left ventricular outflow tract obstruction and improving symptoms in patients with obstructive HCM. We discuss their mechanisms of action, clinical trial outcomes, and potential implications for the future of HCM management. Furthermore, we examine the role of precision medicine in HCM management, exploring how individualised treatment strategies, including exercise prescription as part of the management plan, may optimise patient outcomes. Finally, we underscore the importance of multidisciplinary care and patient-centred approaches to address the complex needs of HCM patients. This review also aims to encourage further research and collaboration in the field of HCM, promoting the development of novel and more effective therapeutic strategies, such as cardiac myosin modulators, to hopefully improve the quality of life and outcome of patients with sarcomeric HCM.
(Less)
- author
- organization
- publishing date
- 2023-09
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- cardiovascular imaging, genetics, hypertrophic cardiomyopathy, myosin modulators, treatment
- in
- Journal of Clinical Medicine
- volume
- 12
- issue
- 17
- article number
- 5710
- publisher
- MDPI AG
- external identifiers
-
- pmid:37685777
- scopus:85170393675
- ISSN
- 2077-0383
- DOI
- 10.3390/jcm12175710
- language
- English
- LU publication?
- yes
- id
- 3f799aa9-8dc7-40af-9f10-5c2efe4e1fdb
- date added to LUP
- 2024-01-12 15:02:55
- date last changed
- 2024-04-27 11:40:27
@article{3f799aa9-8dc7-40af-9f10-5c2efe4e1fdb,
abstract = {{<p>Sarcomeric hypertrophic cardiomyopathy (HCM) is a prevalent genetic disorder characterised by left ventricular hypertrophy, myocardial disarray, and an increased risk of heart failure and sudden cardiac death. Despite advances in understanding its pathophysiology, treatment options for HCM remain limited. This narrative review aims to provide a comprehensive overview of current clinical practice and explore emerging therapeutic strategies for sarcomeric HCM, with a focus on cardiac myosin inhibitors. We first discuss the conventional management of HCM, including lifestyle modifications, pharmacological therapies, and invasive interventions, emphasizing their limitations and challenges. Next, we highlight recent advances in molecular genetics and their potential applications in refining HCM diagnosis, risk stratification, and treatment. We delve into emerging therapies, such as gene editing, RNA-based therapies, targeted small molecules, and cardiac myosin modulators like mavacamten and aficamten, which hold promise in modulating the underlying molecular mechanisms of HCM. Mavacamten and aficamten, selective modulators of cardiac myosin, have demonstrated encouraging results in clinical trials by reducing left ventricular outflow tract obstruction and improving symptoms in patients with obstructive HCM. We discuss their mechanisms of action, clinical trial outcomes, and potential implications for the future of HCM management. Furthermore, we examine the role of precision medicine in HCM management, exploring how individualised treatment strategies, including exercise prescription as part of the management plan, may optimise patient outcomes. Finally, we underscore the importance of multidisciplinary care and patient-centred approaches to address the complex needs of HCM patients. This review also aims to encourage further research and collaboration in the field of HCM, promoting the development of novel and more effective therapeutic strategies, such as cardiac myosin modulators, to hopefully improve the quality of life and outcome of patients with sarcomeric HCM.</p>}},
author = {{Ottaviani, Andrea and Mansour, Davide and Molinari, Lorenzo V. and Galanti, Kristian and Mantini, Cesare and Khanji, Mohammed Y. and Chahal, Anwar A. and Zimarino, Marco and Renda, Giulia and Sciarra, Luigi and Pelliccia, Francesco and Gallina, Sabina and Ricci, Fabrizio}},
issn = {{2077-0383}},
keywords = {{cardiovascular imaging; genetics; hypertrophic cardiomyopathy; myosin modulators; treatment}},
language = {{eng}},
number = {{17}},
publisher = {{MDPI AG}},
series = {{Journal of Clinical Medicine}},
title = {{Revisiting Diagnosis and Treatment of Hypertrophic Cardiomyopathy : Current Practice and Novel Perspectives}},
url = {{http://dx.doi.org/10.3390/jcm12175710}},
doi = {{10.3390/jcm12175710}},
volume = {{12}},
year = {{2023}},
}