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Cardiac JAK2 Mutation V617F in a Patient with Cardiomyopathy and Myeloproliferative Disease
- Stefan Gattenlohner, MD;
- Georg Ertl, MD;
- Hermann Einsele, MD;
- Stefan Kircher, MD;
- Hans-Konrad Muller-Hermelink, MD; and
- Alexander Marx, MD
- From the University of Wuerzburg, Wuerzburg 97080, Germany.
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. With no history of hypertension and interferon or anagrelide treatment that could elicit cardiomegaly in MPD (2), primary hypertrophic cardiomyopathy was diagnosed.
Because a signaling pathway downstream of activated JAK2 is linked to myocardial hypertrophy, we wondered whether the patient's cardiomegaly was related to mutated JAK2. We found the JAK2mutV617F in approximately 50% of DNA from atrial and ventricular cardiomyocytes. We did not find it in epicardial and endocardial tissue or excised blood vessels (including capillaries with endothelial cells) (Figure 1 …
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