| Autor: |
Ottaviani A; Department of Neuroscience, Imaging and Clinical Sciences, 'G. D'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Mansour D; Department of Neuroscience, Imaging and Clinical Sciences, 'G. D'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Molinari LV; Department of Neuroscience, Imaging and Clinical Sciences, 'G. D'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Galanti K; Department of Neuroscience, Imaging and Clinical Sciences, 'G. D'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Mantini C; Department of Neuroscience, Imaging and Clinical Sciences, 'G. D'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Khanji MY; Barts Heart Centre, Barts Health NHS Trust, London EC1A 7BE, UK.; Newham University Hospital, Barts Health NHS Trust, London E13 8SL, UK.; NIHR Barts Biomedical Research Centre, William Harvey Research Institute, Queen Mary University of London, London EC1A 7BE, UK., Chahal AA; Barts Heart Centre, Barts Health NHS Trust, London EC1A 7BE, UK.; Inherited Cardiovascular Diseases, WellSpan Health, Lancaster, PA 17605, USA.; Cardiac Electrophysiology, Cardiovascular Division, Hospital of the University of Pennsylvania, Philadelphia, PA 17605, USA., Zimarino M; Department of Neuroscience, Imaging and Clinical Sciences, 'G. D'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Heart Department, SS. Annunziata Hospital, ASL 2 Abruzzo, 66100 Chieti, Italy., Renda G; Department of Neuroscience, Imaging and Clinical Sciences, 'G. D'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Heart Department, SS. Annunziata Hospital, ASL 2 Abruzzo, 66100 Chieti, Italy., Sciarra L; Department of Life, Health and Environmental Sciences, University of L'Aquila, 67100 L'Aquila, Italy., Pelliccia F; Department of Cardiovascular Sciences, Sapienza University, 00166 Rome, Italy., Gallina S; Department of Neuroscience, Imaging and Clinical Sciences, 'G. D'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Heart Department, SS. Annunziata Hospital, ASL 2 Abruzzo, 66100 Chieti, Italy., Ricci F; Department of Neuroscience, Imaging and Clinical Sciences, 'G. D'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Heart Department, SS. Annunziata Hospital, ASL 2 Abruzzo, 66100 Chieti, Italy.; Department of Clinical Sciences, Lund University, 21428 Malmö, Sweden. |
| Abstrakt: |
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. |
