The Evaluation of Cardiac Disorders and Systemic Hypertension in JAK2 V617F Positive Patients at a Multicenter Institution

INTRODUCTION: Myeloproliferative neoplasms (MPN) represent a significant risk for arterial and venous thrombosis. The JAK2 V617F mutation is an acquired mutation common in patients with polycythemia vera and essential thrombocythemia. Studies have shown that both cardiovascular disorders and JAK2 V617F mutation are independent risk factors for thrombosis in MPN. Additionally in JAK2 V617F transgenic mice, there is reported association of cardiac hypertrophy and myeloproliferative neoplasms. However, there is limited clinical data regarding which cardiovascular risk factors are associated with JAK2 V617F mutations. Our study evaluated cardiac disorders in patients with and without JAK2 V617F mutation, and compared arterial and venous thrombosis rates between the two groups.

METHODS: We performed a retrospective case series study at our multiinstitutional center. Demographic information was collected of patients who were evaluated for JAK2 V617F mutation from 2005 to 2014. 34 patients were female and 35 patients were male. Mean age was 64 .Cardiac disorders were characterized as coronary artery disease (CAD), atrial fibrillation (Afib), left heart failure (LHF), myocardial infarction (MI), and dysrhythmia (DYS) other than Afib. In total, thirty-four patients were JAK2 V617F positive while thirty-five patients were JAK2 V617F negative. Data was analyzed by SPSS software version 11.5 . We used pearson chi square test to compare the incidence of cardiac disorders and systemic hypertension (HTN) between two groups. Two tailed p-value <0.05 was considered statistically significant.

RESULTS: 34 patients were female and 35 patients were male. Mean age was 64 .Baseline characteristics including mean age and gender were not significantly different between two groups. In JAK2 V617F positive patients, there was a statistically significant higher incidence of systemic hypertension and atrial fibrillation. The remaining characteristics were not significant. Additionally, we found no difference in rates of arterial and venous thrombotic events between two groups. We did not find any association between JAK2 V617F mutation and deep vein thrombosis (p= 0.154), stroke (p=0.289), pulmonary embolisms (p=0.538), and peripheral arterial disease (p=0. 572).

CONCLUSION: We identified systemic hypertension (p=0.012) and atrial fibrillation (p=0.018) to be strongly associated with JAK2 V617F mutation. This association has not been reported so far. Due to the retrospective nature of this case series, we are unable to determine whether there is a causal relationship between the presence of JAK2 V617F mutation and systemic hypertension and/or Afib. Further investigation is necessary to determine whether there is a causal relationship between the presence of JAK2 V617F mutation and systemic hypertension and/or Afib.