Extensive pulmonary metastases in young boy with primary cardiac angiosarcoma: a case report

BACKGROUND: Malignant primary cardiac neoplasms are rare and primary cardiac angiosarcoma is the most common and aggressive subtype. It most commonly presents in middle-aged males and due to its non-specific clinical presentation, the diagnosis is often delayed until advanced disease is already present. Clinical presentation is determined by manifestations of local infiltration or metastatic disease and making an early diagnosis is extremely challenging. CASE SUMMARY: A 15-year-old previously healthy boy was admitted to the emergency department with a history of pathological weight loss and functional decline. The patient was found to have a left-sided pneumothorax as well as bilateral diffusely spread pulmonary nodules on plain chest radiograph. Computed tomography chest confirmed widespread pulmonary metastases and a right atrial filling defect. Echocardiography revealed a right atrial tumour and transvenous endomyocardial biopsy of the tumour was done under fluoroscopic and echocardiographic guidance. A diagnosis of primary cardiac angiosarcoma was made. The patient demised shortly after presentation. DISCUSSION: Primary cardiac angiosarcoma is rare and even more so in patients as young as the case described. The diagnostic process poses several challenges to the clinician, of which the obtaining of a histological sample is one. This case report demonstrates aspects both unique and typical of this rare disease. It also describes an effective option for obtaining tissue for a histological diagnosis in patients whose clinical condition may not allow biopsy under general anaesthesia.