Intra-cardiac tumour and bicuspid aortic valve in a patient with neurofibromatosis type 1 – rare associations: a case report

MacLeod, C., Mangion, K., Roditi, G. and Ahmad, F. (2023) Intra-cardiac tumour and bicuspid aortic valve in a patient with neurofibromatosis type 1 – rare associations: a case report. European Heart Journal: Case Reports, 7(4), ytad158. (doi: 10.1093/ehjcr/ytad158) (PMID:37090757) (PMCID:PMC10117367)

Abstract

Background Neurofibromatosis (NF) is an autosomal dominant neurocutaneous disease with multisystem involvement. Three cardiovascular associations are recognised 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 recognising 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.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Roditi, Dr Giles and Ahmad, Dr Faheem and Mangion, Dr Kenneth
• Authors: MacLeod, C., Mangion, K., Roditi, G., and Ahmad, F.
• College/School: College of Medical Veterinary and Life Sciences > School of Cardiovascular & Metabolic Health; College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: European Heart Journal: Case Reports
• Publisher: Oxford University Press
• ISSN: 2514-2119
• ISSN (Online): 2514-2119
• Published Online: 04 April 2023
• Copyright Holders: Copyright © 2023 The Authors
• First Published: First published in European Heart Journal: Case Reports 7(4): ytad158
• Publisher Policy: Reproduced under a Creative Commons License