Cardiac <i>JAK2</i> Mutation <i>V617F</i> in a Patient with Cardiomyopathy and Myeloproliferative Disease
Authors: Stefan Gattenlohner, Georg Ertl, Hermann Einsele, Stefan Kircher, Hans-Konrad Muller-Hermelink, Alexander Marx
Journal: Annals of Internal Medicine (2008)

Letters1 July 2008Cardiac JAK2 Mutation V617F in a Patient with Cardiomyopathy and Myeloproliferative DiseaseStefan Gattenlohner, MD, Georg Ertl, MD, Hermann Einsele, MD, Stefan Kircher, MD, Hans-Konrad Muller-Hermelink, MD, and Alexander Marx, MDStefan Gattenlohner, MDFrom the University of Wuerzburg, Wuerzburg 97080, Germany., Georg Ertl, MDFrom the University of Wuerzburg, Wuerzburg 97080, Germany., Hermann Einsele, MDFrom the University of Wuerzburg, Wuerzburg 97080, Germany., Stefan Kircher, MDFrom the University of Wuerzburg, Wuerzburg 97080, Germany., Hans-Konrad Muller-Hermelink, MDFrom the University of Wuerzburg, Wuerzburg 97080, Germany., and Alexander Marx, MDFrom the University of Wuerzburg, Wuerzburg 97080, Germany.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-149-1-200807010-00027 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Background: A Janus kinase 2 gene mutation known as JAK2mutV617F in hematopoietic progenitor cells causes most Philadelphia chromosome–negative myeloproliferative disorders (MPDs) (1) and may be associated with cardiac hypertrophy.Objective: To describe the first case of an MPD associated with primary cardiomyopathy in which JAK2mutV617F was found in both myeloid cells and some cardiomyocytes.Case Report: A 54-year-old woman with JAK2mutV617F-positive primary myelofibrosis (PMF) underwent splenectomy for symptomatic splenomegaly. She died on postoperative day 3 because of refractory ventricular fibrillation.Autopsy revealed symmetric cardiac hypertrophy (weight, 725 g), normal coronary arteries and valves, and no evidence of infarction or thromboembolism. ...References1. Tefferi A, Lasho TL, Gilliland G. JAK2 mutations in myeloproliferative disorders [Letter]. N Engl J Med. 2005;353:1416-7; author reply 1416-7. [PMID: 16192494] Google Scholar2. Jurgens DJ, Moreno-Aspitia A, Tefferi A. Anagrelide-associated cardiomyopathy in polycythemia vera and essential thrombocythemia [Letter]. Haematologica. 2004;89:1394-5. [PMID: 15531464] MedlineGoogle Scholar3. Booz GW, Day JN, Baker KM. Interplay between the cardiac renin angiotensin system and JAK-STAT signaling: role in cardiac hypertrophy, ischemia/reperfusion dysfunction, and heart failure. J Mol Cell Cardiol. 2002;34:1443-53. [PMID: 12431443] CrossrefMedlineGoogle Scholar4. Gunsilius E, Duba HC, Petzer AL, Kähler CM, Grünewald K, Stockhammer G, et al. Evidence from a leukaemia model for maintenance of vascular endothelium by bone-marrow-derived endothelial cells. Lancet. 2000;355:1688-91. [PMID: 10905245] CrossrefMedlineGoogle Scholar5. Serafini M, Dylla SJ, Oki M, Heremans Y, Tolar J, Jiang Y, et al. Hematopoietic reconstitution by multipotent adult progenitor cells: precursors to long-term hematopoietic stem cells. J Exp Med. 2007;204:129-39. [PMID: 17227908] CrossrefMedlineGoogle Scholar6. Passamonti F, Vanelli L, Malabarba L, Rumi E, Pungolino E, Malcovati L, et al. Clinical utility of the absolute number of circulating CD34-positive cells in patients with chronic myeloproliferative disorders. Haematologica. 2003;88:1123-9. [PMID: 14555308] MedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: From the University of Wuerzburg, Wuerzburg 97080, Germany.Disclosures: None disclosed. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByIndividualized interactomes for network-based precision medicine in hypertrophic cardiomyopathy with implications for other clinical pathophenotypesIntegration of transcriptomic data identifies key hallmark genes in hypertrophic cardiomyopathyCardiac hypertrophy associated with myeloproliferative neoplasms in JAK2V617F transgenic miceSimultaneous and Sequential Concurrent Myeloproliferative and Lymphoproliferative Neoplasms 1 July 2008Volume 149, Issue 1Page: 69-71KeywordsBone marrowCardiac hypertrophyCardiomyocytesCardiomyopathiesCellsHeartPolycythemia veraProteinsThyroidWestern blot ePublished: 1 July 2008 Issue Published: 1 July 2008 CopyrightCopyright © 2008 by American College of Physicians. All Rights Reserved.PDF DownloadLoading ...