Cowden syndrome (CS) is a rare disorder characterised by multiple non-cancerous, tumour-like growths called hamartomas. The syndrome is associated with the development of cancer of the breast, endometrium, kidneys, skin and rarely the brain. We report a rare case of symptomatic cardiac haemangioma in a patient with CS. A 54-year-old woman with CS presented with dyspnoea and orthopnoea in the setting of cardiac tamponade. Echocardiography revealed a large haemopericardium and tamponade physiology, secondary to a pericardial mass. The patient underwent urgent cardiopulmonary bypass with removal of the mass. Histopathology confirmed a benign cavernous haemangioma. We postulate that tumours involving the heart/pericardium may be an additional manifestation of CS. This case further highlights the necessity to consider pericardial/cardiac manifestations in patients with hamartomatous syndromes who present with cardiorespiratory symptoms, so that opportunistic investigation and treatment may be instituted.
- pericardial disease
- cardiothoracic surgery
Statistics from Altmetric.com
Contributors AD assisted with writing the draft of the manuscript and the final editing process. CZ assisted with the description of pathology in the manuscript and provided pathology images. SS assisted with the description of surgical findings and case report. LW assisted with the finalisation of the draft, final editing process and provided all transoesophageal echocardiogram images.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
Patient consent for publication Obtained.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.