Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy

IF 8.4 1区医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS

JACC: Basic to Translational Science Pub Date : 2025-02-01 DOI:10.1016/j.jacbts.2024.10.002

Cordula M. Wolf MD , Martin Zenker MD , Olga Boleti MD , Gabrielle Norrish MD , Mark Russell MD , Joshua K. Meisner MD, PhD , David M. Peng MD , Terence Prendiville MBDchBAO, MD , Jake Kleinmahon MD , Paul F. Kantor MBBCh , Danielle Gottlieb Sen MS, MD, MPH , Derek G. Human BMBCh , Peter Ewert MD , Marcus Krueger MD , Daniela Reber MD , Birgit Donner MD , Christopher Hart MD , Irena Odri Komazec MD, PhD , Stefan Rupp MD , Andreas Hahn MD , Gregor Andelfinger MD

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引用次数: 0

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.

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来源期刊

JACC: Basic to Translational Science CARDIAC & CARDIOVASCULAR SYSTEMS-

CiteScore

14.20

自引率

1.00%

发文量

161

审稿时长

16 weeks

期刊介绍： JACC: Basic to Translational Science is an open access journal that is part of the renowned Journal of the American College of Cardiology (JACC). It focuses on advancing the field of Translational Cardiovascular Medicine and aims to accelerate the translation of new scientific discoveries into therapies that improve outcomes for patients with or at risk for Cardiovascular Disease. The journal covers thematic areas such as pre-clinical research, clinical trials, personalized medicine, novel drugs, devices, and biologics, proteomics, genomics, and metabolomics, as well as early phase clinical trial methodology.