Intracardiac thrombosis in polycythemia vera

Abstract

A man in his late 60s presented with symptoms for a few months of itching and head ache after shower. Physical examination was unremarkable except for ruddy complexion and splenomegaly. Complete blood count showed haemoglobin of 18.1 g/dL and haematocrit of 56.6%. To rule out secondary causes of erythrocytosis, such as congenital heart disease with a right to left shunt, a transthoracic echocardiogram was performed, which showed normal left ventricular function with an apical area of dyskinesis and a large left ventricular apical thrombus measuring 3.0 cm×2.0 cm. Further laboratory investigations showed low erythropoietin level and Jak V617F mutation consistent with the diagnosis of polycythemia vera. He was treated with aspirin, enoxaparin, phlebotomy and hydroxyurea with no reported complications during the stay.

A Case Report of Large Bilateral Pulmonary Embolism in a Patient With Janus Kinase 2 (JAK2) Positive Mutation

“…JAK2 mutation sometimes can be falsely negative initially and in a case report of a 40-year-old patient with a positive family history of deep venous thrombosis (DVT), she developed thrombosis of the inferior vena cava extending to the suprahepatic veins and pulmonary arteries, although she tested negative for JAK 2 mutation initially but tested positive later [ 2 ]. PV can also be associated with intracardiac thrombus and a case report of a 60-year-old patient was found to have left apical thrombus after presenting with tinnitus and vertigo [ 3 ]. Several factors increase the risk of thrombosis in patients with PV, including increased haematocrit, impaired fibrinolytic activity, platelet activation, leukocyte activation, endothelial damage, and increased whole-blood viscosity [ 3 ].…”

“…PV can also be associated with intracardiac thrombus and a case report of a 60-year-old patient was found to have left apical thrombus after presenting with tinnitus and vertigo [ 3 ]. Several factors increase the risk of thrombosis in patients with PV, including increased haematocrit, impaired fibrinolytic activity, platelet activation, leukocyte activation, endothelial damage, and increased whole-blood viscosity [ 3 ]. Key risk factors for intracardiac thrombus in these patients include valve disease, prosthetic valve, and cardiomyopathy [ 3 , 14 ].…”

“…Several factors increase the risk of thrombosis in patients with PV, including increased haematocrit, impaired fibrinolytic activity, platelet activation, leukocyte activation, endothelial damage, and increased whole-blood viscosity [ 3 ]. Key risk factors for intracardiac thrombus in these patients include valve disease, prosthetic valve, and cardiomyopathy [ 3 , 14 ]. Studies have shown that the key risk factors associated with recurrent thrombosis include old age, the presence of cardiovascular risk factors such as hypertension, diabetes mellitus, hypercholesterolaemia, atrial fibrillation, smoking, and previous thromboembolic events.…”

“…The Janus kinase 2 (JAK2V617F) mutation is the main molecular marker of the Philadelphia-negative chronic myeloproliferative neoplasms (MPN), responsible for 95% of polycythaemia; 50% of thrombocythemia vera; and myelofibrosis cases [ 2 ]. Myeloproliferative neoplasms are uncommon disorders, and polycythaemia vera (PV) is the most common myeloproliferative neoplasm with an annual incidence rate of 1-2/100,000 people [ 3 ]. PV is characterised by the presence of a Janus kinase 2 (JAK2) mutation, erythrocytosis, and panmyelosis on bone marrow biopsy and is associated with an increased risk of thrombosis based on age and other risk factors.…”

A Case Report of Polycythemia Rubra Vera Manifesting as Intracardiac Thrombosis and Pulmonary Embolism

“…Polycythemia Vera (PV) is one of the chronic myeloproliferative disorders, characterized by erythrocytosis and resultant manifestations, predominantly thrombotic events and related complications. Even though thrombosis is a known complication, intracardiac thrombosis is rare initial manifestation of polycythemia rubra vera and is seen usually in patients who have other risk factors for intracardiac thrombosis, such as valve disease, prosthetic valve, device induced or cardiomyopathy (1).…”