Background: Neurofibromatosis (NF) is an autosomal dominant neurocutaneous disease with multi-system involvement. Three cardiovascular associations are recognized but infrequently reported: congenital heart disease, vasculopathy, and hypertension. Cardiac outflow tract pathology, pulmonary stenosis, and aortic co-arctation have been described in the literature with varying frequency. The incidence of intra-cardiac tumour is exceeding rare.
Case summary: A 53-year-old man presented to the neurosurgical team with myelopathy secondary to cord compression arising from multiple cervical neurofibromas secondary to NF-1. Further cardiac evaluation with echocardiography and cardiac MRI uncovered the presence of both a bicuspid aortic valve (with mild aortic stenosis and moderate aortic regurgitation) and a concurrent intra-cardiac tumour of the mitral papillary muscle; a combined finding which was not reported previously. Serial evaluation confirmed stable disease with no major progression over time.
Discussion: Our case highlights the importance of recognizing cardiovascular manifestations of NF-1 and instituting appropriate screening and surveillance strategies. Targeted non-invasive imaging strategies may be more suited for this purpose over routine clinical examination alone.
Keywords: Case report; Neurofibromatosis; Papillary muscle neurofibroma.
© The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology.