Primary malignant tumors of the heart are rare, with an estimated frequency of 0.0017-0.33%.1 While 95% of malignant cardiac tumors are sarcomas, only 300 cases have been reported to date.1,2 These tumors typically have an unfavorable prognosis, with 1-year mortality reported to be as high as 50%, as there is often a delay in diagnosis until the patient is symptomatic from systemic embolization, myocardial infarction, valvular heart disease, or new-onset heart failure.1,3,4 There is no consensus on therapeutic modalities for these tumors.4
Budd-Chiari syndrome (BCS) is a disorder in which the major hepatic veins or inferior vena cava (IVC) are occluded secondary to clot burden resulting in acute liver failure (ALF). BCS typically occurs in the setting of thrombophilia, myeloproliferative disorders, congenital webs, and malignancy.5 Acute BCS has been described in the setting of several rare cardiac tumors, including atrial myxoma, caval rhabdomyosarcoma, and primary cardiac adenocarcinoma, but not synovial sarcoma.5
A 60-year-old white man with hypertension and Parkinson's disease presented with acute liver failure, lactic acidosis, acute renal failure, altered mental status, and acute-on-chronic lower extremity edema for 3 months. Initial examination revealed a somnolent, disoriented man with symmetric lower extremity edema, hepatomegaly, and ascites, but no other stigmata of chronic liver disease. Admission laboratory tests were remarkable for AST 3877 unit/L, ALT 2939 unit/L, total bilirubin 4.5 mg/dL, indirect bilirubin 2.9 mg/dL, INR 3.8, white blood cell 19.4 k/μL, platelets 63 k/μL, lactic acid 13.9 mmol/L, BUN 67 mg/dL, and creatinine 3.3 mg/dL, with a negative acetaminophen level and toxicology screen. A comprehensive hepatitis viral serology panel, Epstein-Barr virus, and Cytomegalovirus DNA-PCR, and HIV testing were unrevealing. Diagnostic paracentesis was negative for spontaneous bacterial peritonitis or malignancy. All other microbiological work-up revealed no evidence of infection. Testing for alpha-1 antitrypsin deficiency, hemochromatosis, and Wilson's disease were negative.
The patient developed hepatorenal syndrome requiring continuous venovenous hemofiltration. Bilateral lower extremity Doppler ultrasonography showed extensive thrombosis of the femoral-popliteal system bilaterally with extension into both iliac veins. IVC filter placement was attempted, but aborted due to extensive clot burden. Liver ultrasonography with Doppler flow revealed hepatic vein thrombosis and reversal of portal venous flow. Cranial computed tomography (CT) was unremarkable. Abdominal, thoracic, and pelvic CT revealed further extension of thrombus into the right atrium. Transthoracic echocardiography showed normal left ventricular ejection fraction with a large echodense mass in the right atrium. Cardiac MRI demonstrated a 10.6 x 5.0 x 5.6-cm heterogeneous mass within the pericardium invading the right atrium, which was biopsied by cardiothoracic surgery (Figure 1). The patient continued to decline clinically and was transitioned to comfort care. Postmortum revealed a large lateral right atrial highly differentiated synovial sarcoma metastatic to the parietal and visceral pericardium. Extensive clots extending from the hepatic veins to the right atrium confirmed the diagnosis of BCS.
While BCS has been described in association with atrial myxoma, IVC rhabdomyosarcoma, and primary cardiac adenocarcinoma,5 this is the first report of association with cardiac synovial sarcoma. The clinical presentation of ALF should always prompt a search for BCS, and once diagnosed, a thorough work-up for thrombophilia, myeloproliferative disorders, congenital webs, and, in our case, malignancy, should be completed. Recent expert opinion by Mancuso suggested that in the presence of portal hypertension, transjugular intrahepatic portosystemic shunt (TIPS) should be performed as first-line therapy; angioplasty with stenting should be considered if TIPS is unsuccessful.6 Liver transplantation should be used only as a rescue therapy. Due to the advanced presentation of liver disease and the clot burden, TIPS was not attempted in our patient, nor was transplantation an option with active malignancy. In retrospect, earlier investigation into either cardiac or hepatic etiologies for new-onset symmetric lower extremity edema 3 months prior to the patient's presentation to our hospital may have provided earlier treatment options with TIPS, stenting, or anticoagulation. A high index of suspicion for BCS is necessary for any patient demonstrating new onset features of portal hypertension, and we would recommend a right upper quadrant ultrasound with hepatic venous Doppler to evaluate for thrombosis. In the setting of large clot burden, malignancy should always be considered; we argue that, given the aggressive nature of cardiac tumors, synovial sarcomas should be considered in the differential diagnosis of BCS in the absence of an inherited thrombophilic state.
Author contributions: All authors contributed equally to manuscript creation. JG Stine is the article guarantor.
Financial disclosure: This work was supported in part by grant funding from the National Institutes of Health.
Informed consent was obtained from the family of the patient.
Acknowledgments: We would like to acknowledge Jorge Guerrero, MD, and Caitlin Crowther, MD, for their technical advice with manuscript preparation.
Previous Publication: This case report was presented in part at the CHEST 2011 Meeting; October 22-26, 2011; Honolulu, Hawaii.
Received: October 21, 2014; Accepted: March 4, 2015
1. Shapiro LM. Cardiac tumors, diagnosis and management. Heart
2. Shanmugam G. Primary cardiac sarcoma. Eur J Cardiothorac Surg
3. Bhandari V, Sakhi P, Munjal K, et al. Primary right atrial sarcoma. J Can Res Ther
4. Mayer F, Aebert H, Rudert M, et al. Primary malignant sarcomas of the heart and great vessels in adult patients: A single centre experience. Oncologist
5. Anagnostopoulos GK, Margantinis G, Kostopoulos P, et al. Budd-Chiari syndrome and portal vein thrombosis due to right atrial myxoma. Ann Thorac Surg
6. Mancuso A. An update on the management of Budd-Chiari syndrome: The issues of timing and choice of treatment. Eur J Gastroenterol Hepatol
Publish your work in ACG Case Reports Journal
ACG Case Reports Journal is a peer-reviewed, open-access publication that provides GI fellows, private practice clinicians, and other members of the health care team an opportunity to share interesting case reports with their peers and with leaders in the field. Visit http://acgcasereports.gi.org for submission guidelines. Submit your manuscript online at http://mc.manuscriptcentral.com/acgcr.