ArticleJACC. Basic to translational science2025
Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy.
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Article in JACC. Basic to translational science, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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23citing papers in PubMed, 1 pooled it
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome.Frontiers in pediatrics · 2025Pooled it
- Rigosertib Reverses Hypertrophic Cardiomyopathy in Noonan Syndrome.Circulation · 2026Article
- Clinical consensus guidelines for the management of Noonan syndrome in Japan.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- Novel Use of Mavacamten in RAF1-Associated Noonan Syndrome With Hypertrophic Cardiomyopathy.JACC. Case reports · 2026Article
- Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.Clinical genetics · 2026Article
- RAS/MAPK pathway modulation with simvastatin in children with Noonan syndrome: a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.EClinicalMedicine · 2026Article
- The 9th International RASopathies Symposium.American journal of medical genetics. Part A · 2026Article
- Trametinib Therapy for Hypertrophic Cardiomyopathy and Pulmonary Hypertension in a Child With RAF1-Related Noonan Syndrome (p.Ser257Leu): A Case Report.Clinical case reports · 2026Article
- Childhood-onset RASopathy-associated hypertrophic cardiomyopathy, diastolic dysfunction, and arrhythmias.European heart journal · 2026Article
- Clinical characteristics and etiology-specific outcome in pediatric hypertrophic cardiomyopathy.Clinical research in cardiology : official journal of the German Cardiac Society · 2026Article
- Atrial Septal Defect Surgical Closure Following Trametinib Utilization in Noonan Syndrome-Associated Hypertrophic Cardiomyopathy.JACC. Case reports · 2026Article
- Physical activity and competitive sport safety for children affected by inherited cardiac conditions and selected acquired cardiomyopathies: emerging evidence and areas for further inquiry.European journal of pediatrics · 2026Review
- Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.European journal of human genetics : EJHG · 2026Article
- Dysregulated TGFβ-ERK Signaling Drives Aberrant Extracellular Matrix Production in Noonan Syndrome-Associated Pulmonary Valve Stenosis.bioRxiv : the preprint server for biology · 2026Article
- Tailored therapeutics for cardiomyopathies.Nature reviews. Cardiology · 2025Review
- Precision medicine in neuropsychiatric disorders: Still a long way to go.Developmental medicine and child neurology · 2025Article
- Rethinking Childhood-Onset Hypertrophic Cardiomyopathy: A Review of Molecular Mechanisms and Unique Therapy Considerations.Journal of cardiovascular development and disease · 2025Review
- CURE ID: A Platform to Collect Real-World Treatment Data for Drug Repurposing in Rare Genetic Disorders.American journal of medical genetics. Part C, Seminars in medical genetics · 2025Article
- Cardiac Hypertrophy: A Comprehensive Review from Prenatal Life to Young Adulthood.Children (Basel, Switzerland) · 2025Review
- Targeted treatment of hypophosphatemia with trametinib in HRAS-related mosaic RASopathy.Orphanet journal of rare diseases · 2025Article
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Authors and funding
42 authors.
Cordula M WolfDepartment of Congenital Heart Defects and Pediatric Cardiology, German Heart Center Munich, School of Medicine and Health, Technical University of Munich, Munich, Germany; Deutsches Zentrum für Herz-Kreislauf-Forschung (German Center for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany; Member of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart.
Martin ZenkerInstitute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke-University, Magdeburg, Germany.
Olga BoletiCentre for Inherited Cardiovascular Diseases, Institute of Cardiovascular Science, University College London and Great Ormond Street Hospital, London, United Kingdom.
Gabrielle NorrishCentre for Inherited Cardiovascular Diseases, Institute of Cardiovascular Science, University College London and Great Ormond Street Hospital, London, United Kingdom.
Mark RussellUniversity of Michigan, Ann Arbor, Michigan, USA.
Joshua K MeisnerUniversity of Michigan, Ann Arbor, Michigan, USA.
David M PengUniversity of Michigan, Ann Arbor, Michigan, USA.
Terence PrendivilleChildren's Health Ireland at Crumlin, Crumlin, Ireland.
Jake KleinmahonOchsner Hospital for Children, Jefferson, Louisiana, USA.
Paul F KantorChildren's Hospital Los Angeles, Los Angeles, California, USA.
Danielle Gottlieb SenJohns Hopkins School of Medicine, Baltimore, Maryland, USA.
Derek G HumanBritish Columbia's Children's Hospital, Vancouver, British Columbia, Canada.
Peter EwertDepartment of Congenital Heart Defects and Pediatric Cardiology, German Heart Center Munich, School of Medicine and Health, Technical University of Munich, Munich, Germany; Deutsches Zentrum für Herz-Kreislauf-Forschung (German Center for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany; Member of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart.
Marcus KruegerDepartment of Neonatology, Municipal Hospital Munich Schwabing, Munich, Germany.
Daniela ReberDepartment of Neonatology, Municipal Hospital Munich Schwabing, Munich, Germany.
Birgit DonnerPediatric Cardiology, University Children's Hospital of Basel, University of Basel, Basel, Switzerland.
Christopher HartDepartment of Pediatric Cardiology, Pediatric Heart Center, Children's Hospital, University of Bonn, Bonn, Germany.
Irena Odri KomazecDepartment of Child and Adolescent Health (Pediatrics III, Pediatric Cardiology), Medical University of Innsbruck, Innsbruck, Austria.
Stefan RuppPediatric Heart Center, University of Giessen and Marburg, Giessen, Germany.
Andreas HahnDepartment of Child Neurology, University of Giessen, Giessen, Germany.
Anja HanserDepartment of Pediatric Cardiology and Intensive Medicine, University Hospital Tübingen, Eberhard-Karls-University, Tübingen, Germany.
Michael HofbeckDepartment of Pediatric Cardiology and Intensive Medicine, University Hospital Tübingen, Eberhard-Karls-University, Tübingen, Germany.
Jos M T DraaismaRadboud University Medical Center, Radboud Institute for Health Sciences, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands.
Floris E A Udink Ten CateRadboud University Medical Center, Radboud Institute for Health Sciences, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands.
Alessandro MussaDepartment of Public Health and Pediatric Sciences, University of Turin, Turin, Italy.
Giovanni B FerreroDepartment of Clinical and Biological Sciences, School of Medicine, University of Turin, Turin, Italy.
Laurence VaujoisCentre Mère-Enfant Soleil, Université de Laval, Quebec City, Quebec, Canada.
Marie-Josée RaboissonCHU Sainte Justine, Department of Pediatrics, Université de Montréal, Montréal, Quebec, Canada.
Marie-Ange DelrueCHU Sainte Justine, Department of Pediatrics, Université de Montréal, Montréal, Quebec, Canada.
Christopher MarquisCHU Sainte Justine, Department of Pediatrics, Université de Montréal, Montréal, Quebec, Canada.
Yves ThéoretCHU Sainte Justine, Department of Pediatrics, Université de Montréal, Montréal, Quebec, Canada.
Soujanya BogarapuChildren's Hospital of Illinois, University of Illinois College of Medicine, Chicago, Illinois, USA.
Adrian DanceaMontreal Children's Hospital, McGill University Health Center, Montréal, Quebec, Canada.
Mette Moller HandrupMember of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart; Center for Rare Diseases, Aarhus University Hospital, Copenhagen, Denmark.
Mariska KemnaSeattle Children's Hospital, Seattle, Washington, USA.
Tiina OjalaMember of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart; New Children's Hospital Pediatric Research Center, Helsinki University Hospital, Helsinki, Finland.
Niti DhamGeorge Washington University and Children's National Hospital, Washington, District of Columbia, USA.
Frank DickeAlberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada.
Tim FriedeUniversity Medical Center Göttingen, Department of Medical Statistics, Göttingen, Germany; Deutsches Zentrum für Herz-Kreislauf-Forschung (German Center for Cardiovascular Research), partner site Lower Saxony, Göttingen, Germany; Deutsches Zentrum für Kinder- und Jugendgesundheit (German Center for Child and Adolescent Health), partner site Göttingen, Göttingen, Germany.
Juan Pablo KaskiCentre for Inherited Cardiovascular Diseases, Institute of Cardiovascular Science, University College London and Great Ormond Street Hospital, London, United Kingdom.
Bruce D GelbMindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Gregor AndelfingerCHU Sainte Justine, Department of Pediatrics, Université de Montréal, Montréal, Quebec, Canada. Electronic address: gregor.andelfinger.med@ssss.gouv.qc.ca.
Funding
Advancing Child Health Through Cellular and Molecular BiologyK12HD028820 · NICHD · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Donna M. Martin · 2002 to 2026
$9.2MTherapy Development for Genetic Disorders of the RAS/MAPK PathwayR01HL173006 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BRUCE D GELB · 2024 to 2026
$2.3MNHLBI NIH HHS R01 HL173006NICHD NIH HHS K12 HD028820
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.
Indexed as
childhood cardiomyopathyMEK inhibitionNoonan syndrome spectrumRAS/MAPK signalingRASopathiessurvival
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