Wolf, Cordula M;
Zenker, Martin;
Boleti, Olga;
Norrish, Gabrielle;
Russell, Mark;
Meisner, Joshua K;
Peng, David M;
... Andelfinger, Gregor; + view all
(2025)
Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy.
JACC: Basic to Translational Science
, 10
(2)
pp. 152-166.
10.1016/j.jacbts.2024.10.002.
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Abstract
There is an unmet medical need to treat patients with severe hypertrophic cardiomyopathy leading to heart failure and death in children carrying pathogenic activating variants in the RAS/mitogen-activated protein kinase pathway. A retrospective analysis of 61 patients provides evidence for decreased mortality and morbidity with improved cardiac status in patients with RASopathy with severe hypertrophic cardiomyopathy receiving mitogen-activated protein kinase kinase inhibition (n = 30) vs those with standard-of-care treatment (n = 31). Side effects were not life threatening and were manageable. The data presented suggest that personalized therapies targeting underlying signaling pathway abnormalities might be effective in critically ill patients with RASopathy warranting clinical investigation.
| Type: | Article |
|---|---|
| Title: | Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.jacbts.2024.10.002 |
| Publisher version: | https://doi.org/10.1016/j.jacbts.2024.10.002 |
| Language: | English |
| Additional information: | © 2025 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
| Keywords: | childhood cardiomyopathy, MEK inhibition, Noonan syndrome spectrum, RAS/MAPK signaling, RASopathies, survival |
| 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 |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10206834 |
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