Neck venous malformations and their potentially life-threatening complications are rarely reported in the available literature. Cases of aneurysmal or hypo-plastic jugular vein thrombosis associated with systemic embolization have not been frequently reported. We present the case of a 60-year-old male, without any known risk factors for thromboembolic disease, admitted for sudden onset dyspnea. The physical examination was remarkable for a right lateral cervical mass, expanding with Valsalva maneuver. Thoracic CT with contrast established the diagnosis of bilateral pulmonary embolism and raised the suspicion of superior vena cava and right atrial thrombosis. Bedside transthoracic echocardiography confirmed the presence of a large right atrial thrombus, with intermittent protrusion through the tricuspid valve. Systemic thrombolysis with Alteplase was initiated shortly after diagnosis, in parallel with unfractionated heparin, with complete resolution of the intracavitary thrombus documented by echocardiography. The patient showed significant improvement in symptoms and was later started on oral anticoagulation. Computed vascular tomography of the neck was performed before discharge, showing hypoplasia of the left internal jugular vein and aneurismal dilation of the contralateral internal jugular vein, without thrombosis. There were no identifiable systemic causes for thrombosis. Surgical resection of the aneurismal jugular vein was excluded, because of its potential to cause intracranial hypertension. The preferred therapeutic option in this case was long-term oral anticoagulation.
Internal jugular venous malformations, such as aneurisms or hypoplasia, could be associated with an increased risk of thrombosis and major embolic events.
Systemic thrombolysis can be an efficient solution in cases of pulmonary embolism with right heart thrombosis.
Multimodality imaging is greatly valuable in clarifying the diagnosis of atypical cases.
Venous aneurisms of the neck are rare entities, typically asymptomatic, potentially complicated by thrombosis or rupture (1, 2). Venous malformations of the neck associated with thromboembolic events are rarely reported in the available literature (3, 4).
We present the case of a patient with congenital hypoplasia of the left internal jugular vein, with a compensatory contralateral jugular vein aneurysm, admitted for pulmonary embolism with massive right heart thrombosis.
A 60-year-old male presented to the emergency department with acute onset of dyspnea and presyncope. The patient did not have any known risk factors for thromboembolic disease or history of thromboembolic events. On examination, the blood pressure was 110/60 mmHg, the pulse 120 beats per minute, the respiratory rate 22 breaths per minute and the oxygen saturation 95% while breathing in ambient air. Facial asymmetry and a right lateral cervical mass (3 cm in diameter), expanding with Valsalva maneuver was noted, the remainder of the examination was normal. There were no signs of deep venous thrombosis of the lower extremities.
The electrocardiogram showed sinus tachycardia (120 beats per minute) and an incomplete right bundle branch block. The laboratory tests were remarkable for increased levels of serum NT-proBNP (1766 ng/dL) and Troponin I (0.055 ng/mL). Conversely, the blood cell count, hepatic and renal functions were normal.
The patient had a high clinical suspicion of pulmonary embolism. Emergency thoracic CT with contrast was performed, revealing bilateral pulmonary embolism (Fig. 1), as well as superior vena cava and right atrial thrombosis (Fig. 2, panels A and B). Bedside transthoracic echocardiography confirmed the presence of a massive right atrial thrombus, extending from the superior vena cava (Fig. 3, panels A, B, and C). The thrombus was highly mobile, hyper segmented and partially protrusive through the tricuspid valve into the right ventricle (Video 1). Additionally, echocardiography showed a positive McConnell sign, decreased tricuspid annular plane systolic excursion (11 mm) and a high velocity of the tricuspid regurgitant jet (4.2 m/s).
Extensive workup was negative for hematological disease associated with thrombosis, malignancy, systemic autoimmune disease or thrombophilia. Venous Duplex ultrasound of the lower limbs showed no signs of thrombosis. Considering the presence of the lateral cervical mass and the superior vena cava thrombosis, we further investigated the cervical region. Venous Doppler of the cervical veins, performed 3 days after the acute event, revealed aneurismal dilation of the right internal jugular vein, without signs of residual thrombosis. Furthermore, cervical CT angiography showed an unusual anatomy of the neck veins: hypoplasia of the left internal jugular vein and aneurismal saccular dilation of the right internal jugular vein, with no signs of thrombosis (Figs 4 and 5).
Treatment and outcome
Systemic thrombolytic therapy with alteplase was administered (100 mg in 2 h), in parallel with a continuous infusion of unfractionated heparin (adjusted according to the activated partial thromboplastin time). The patient was later switched to low-molecular-weight heparin and oral anticoagulation with a vitamin K antagonist was initiated. There was a significant improvement in symptoms and no bleeding complications were noted. Echocardiography revealed complete resolution of the right atrial thrombus 3 h post thrombolysis, as well as an improvement in the systolic function of the right ventricle and a decrease in the pulmonary artery pressure. Three-dimensional echocardiography performed 24 h later showed dilated right heart chambers, but without signs of thrombosis (Fig. 6, panels A, B and Video 2)
Neck venous malformations are rare entities, which usually remain asymptomatic (1). Isolated internal jugular vein aneurysms are the most frequently encountered anomalies of the venous system of the neck, and internal jugular vein agenesis and hypoplasia, associated with compensatory aneurysmal dilation of the contralateral venous axis have been also reported (1). Incidental thrombosis of a hypoplasic (5) or of an aneurismal jugular vein (6) have been previously described in patients with risk factors for thrombosis, generally without embolic complications. Usually, thromboembolic events are caused by aneurysms in the lower limb veins (popliteal, femoral), and a single case of a cephalic vein with secondary pulmonary embolism was previously reported (7).
Our case illustrates the potential of life-threatening thromboembolism associated with complex neck venous malformations, in a patient with no known risk factors for thrombosis. To the best of our knowledge, thrombosis and embolism from a congenital venous aneurism has not been previously reported.
The classic approach to venous aneurisms of the neck is surgical resection, especially if symptomatic (8). In our patient, the saccular dilation of the right internal jugular vein was interpreted as compensatory for the left venous axis hypoplasia. Therefore, such an approach was not feasible, as it would have potentially caused intracranial hypertension. Data are scarce about the interventional or surgical treatment of symptomatic venous aneurisms occurring secondary to contralateral hypoplasia or agenesis. Therefore, long-term oral anticoagulation was the preferred treatment option for the prevention of further thromboembolic events in this patient.
Internal jugular venous malformations, such as aneurisms or hypoplasia, might be associated with increased risk of thrombosis and major embolic events, making their recognition critical for the institution of appropriate therapy.
Our case is the first to report a severe thromboembolic event from a jugular vein aneurysm, which was not spontaneous, but caused by the hypoplasia of the contralateral vein. A specific treatment plan was necessary in our patient, relatively different from the ones reported by the literature.
Declaration of interest
The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of this case report.
This work did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.
Written informed consent has been obtained from the patient.
BelcastroMPalleschiATrovatoRALandiniRDi BisceglieMNataleA. A rare case of internal jugular vein aneurysmal degeneration in a type 1 neurofibromatosis complicated by potentially life-threatening thrombosis. Journal of Vascular Surgery 2011 54 1170–1173. (https://doi.org/10.1016/j.jvs.2011.03.273)