Desmoplastic Small Round Cell Tumors Presented With ST-Segment Elevation Myocardial Infarction and Cardiac Tamponade in a Young Adult Female: A Case Report

TL;DR

A young woman presented with heart-related symptoms and was diagnosed with a rare aggressive tumor called desmoplastic small round cell tumor (DSRCT), highlighting its unusual cardiac manifestations.

Contribution

This case report presents a rare manifestation of DSRCT involving cardiac tamponade and ST-segment elevation myocardial infarction in a young adult.

Findings

DSRCT was diagnosed in a young female presenting with cardiac tamponade and ST-segment elevation myocardial infarction.

Imaging and biopsy confirmed DSRCT with a sarcoma fusion gene (Ewing sarcoma RNA-binding protein 1-Wilms’ tumor 1).

The case suggests DSRCT should be considered in differential diagnoses of pericardial and lung masses in young patients.

Abstract

Desmoplastic small round cell tumors (DSRCT) are very rare and aggressive diseases typically present with abdominal or retroperitoneal masses. We present a case of a young female who presented with ST-segment elevation myocardial infarction and cardiac tamponade and who was found to have DSRCT. The patient was coded at the emergency department. Left heart catheterization showed normal coronary arteries, and pericardiocentesis removed 1,260 mL of bloody pericardial effusions. The patient was stabilized, and a positron emission tomography scan revealed left intrahilar, hilar, and cardiophrenic masses with associated hypermetabolic right hilar, left hilar, subcarinal, costophrenic, aortopulmonary, paratracheal, and mediastinal lymphadenopathy. Cardiac magnetic resonance imaging showed multiple masses visualized in the pericardium, one mass anterior to the right ventricular outflow tract/pulmonary artery, and a second mass adjacent to the right ventricular apex. Computed tomography abdomen/pelvis showed no evidence of metastatic malignancy in the abdomen/pelvis. A biopsy of lung mass and lymph nodes showed desmoplastic small round cell tumors with sarcoma fusion gene detected (Ewing sarcoma RNA-binding protein 1-Wilms’ tumor 1). We performed cycle 1 of chemotherapy, including doxorubicin, vincristine, and cyclophosphamide, and the patient was transferred to an oncology center for further care. This case suggested that one of the differential diagnoses of lung and pericardium masses at a young age can be desmoplastic small round cell tumors. This case also highlighted that ST-segment elevation myocardial infarction can be secondary to neoplasm, especially at a young age besides myocardial infarction.

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