Publikationen (FIS)
Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy
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.
Details
- Externe Organisation(en)
-
Technische Universität München (TUM)
Deutsches Zentrum für Herz-Kreislauf-Forschung e. V. (DZHK)
ERN GUARD-Heart
Otto-von-Guericke-Universität Magdeburg
University College London (UCL)
Great Ormond Street Hospital for Children NHS Trust
University of Michigan
Our Lady's Hospital for Sick Children
Ochsner Hospital for Children
University of Southern California (USC)
Johns Hopkins University
University of British Columbia
München Klinik Bogenhausen
Universität Basel
Rheinische Friedrich-Wilhelms-Universität Bonn
Innsbruck Medical University
Universitätsklinikum Gießen und Marburg GmbH
Justus-Liebig-Universität Gießen
Eberhard Karls Universität Tübingen
Radboud Universität Nijmegen (RU)
Università di Torino
Universite Laval
Université de Montréal
University of Illinois Chicago (UIC)
McGill University Health Center
Aarhus University
Seattle Children's Hospital
Universität Helsinki
Children's National Medical Center
University of Calgary
Georg-August-Universität Göttingen
Deutsches Zentrum für Kinder- und Jugendgesundheit (DZKJ)
Icahn School of Medicine at Mount Sinai (ISMMS)
- Typ
- Artikel
- Journal
- JACC: Basic to Translational Science
- Band
- 10
- Seiten
- 152-166
- Anzahl der Seiten
- 15
- ISSN
- 2452-302X
- Publikationsdatum
- 02.2025
- Publikationsstatus
- Veröffentlicht
- Peer-reviewed
- Ja
- ASJC Scopus Sachgebiete
- Kardiologie und kardiovaskuläre Medizin
- Elektronische Version(en)
-
https://doi.org/10.1016/j.jacbts.2024.10.002 (Zugang:
Offen
)
