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Sudden cardiac death as the presentation of acute myeloid leukaemia

A 64-year-old man developed acute onset shortness of breath and died suddenly at home before the ambulance arrived. Post-mortem examination revealed approximately 200 ml of haemorrhagic pericardial fluid, accompanied by an abnormal appearance of the heart surface (left). Histological examination showed an atypical population of blast cells infiltrating the myocardium and epicardium (right); these cells had scanty eosinophilic cytoplasm and round to oval nuclei with finely dispersed chromatin and occasionally distinct nucleoli. Immunohistochemistry was positive for CD45, myeloperoxidase, CD43, CD68 and BCL2 and was consistent with a diagnosis of acute myeloid leukaemia (AML), specifically myeloid sarcoma. At autopsy, there was no evidence of any other organ involvement, but the bone marrow was not investigated. Secondary cardiac tumours are present in 1 23% of autopsies and extramedullary AML (EAML) constitutes 4% of these (Lam, K.Y., Dickens, P. & Chan, A.C. (1993) Tumors of the heart. A 20-year experience with a review of 12,485 consecutive autopsies. Archives of Pathology and Laboratory Medicine, 117, 1027–1031). This case is exceptionally unusual because of the extent of myocardial involvement, as well as the lack of prior evidence of systemic disease. Only a handful of similar cases have been described. When the clinical scenario permits, echocardiography is often enough to characterise the lesion. Biopsy may be guided by various means, including echocardiography and fluoroscopy. Positron emission tomography is particularly useful when planning radiotherapy. There is no consensus on the management of cardiac EAML and such extensive myocardial involvement poses significant obstacles in management. Review of current literature suggests that it is common practice to give induction chemotherapy, as for AML, accompanied by radiotherapy, although the exact role of the latter is unclear. Most treatment plans are based on conclusions derived from isolated case reports. As a result, many questions on the best combination of therapies and their optimal timing are, as yet, unanswered.