Severe mitral stenosis due to primary cardiac intimal sarcoma: case report

Primary cardiac tumours are exceedingly rare with intimal sarcomas being the rarest subtype of malignant cardiac sarcomas. These tumours are characterized by late presentation, haemodynamic compromise, and poor prognosis due to their rapid progression and metastatic potential. Multimodal management is essential given the lack of standardized guidelines.

A 64-year-old female presented with heart failure and atrial fibrillation. An echocardiogram revealed a 48 mm obstructive intra-cardiac mass in the left atrium causing severe functional mitral stenosis. Given recurrent episodes of flash pulmonary oedema secondary to mitral stenosis, a multi-disciplinary decision was made to proceed with high-risk surgical debulking. The patient underwent resection with pathology showing an undifferentiated pleomorphic sarcoma with evidence of MDM2 amplification, in keeping with an intimal sarcoma. She was discharged home in stable condition but had progression of disease despite treatment with doxorubicin. She died 6 months after from a haemorrhagic stroke.

Intimal sarcomas carry a dismal prognosis due to late-stage detection and challenges with complete resection. While anthracycline-based chemotherapy and surgical resection may modestly extend survival, recurrence and metastases remain common. This case underscores the aggressive nature of cardiac intimal sarcoma and the vital role of early diagnosis and coordinated, multi-disciplinary care. Additionally, the psychosocial toll of such a devastating illness necessitates early integration of supportive services to address patient and family needs during a rapidly evolving clinical course.