| Literature DB >> 22670000 |
Jessica Moline1, Joanne Ngeow, Prabhakar Rajiah, Charis Eng.
Abstract
A man in his 60s presents with chronic dyspnoea and cough for 3 years. EKG and nuclear stress test were not diagnostic. An echocardiogram revealed moderate pericardial effusion. His symptoms improved with ibuprofen temporarily and a repeat echocardiogram showed resolution of the effusion. However, when his symptoms recurred, re-imaging showed a large intracardiac tumour causing right ventricular outflow obstruction. Subsequent histological examination revealed metastatic paraganglioma. He was found to carry a germline mutation in the SDHB gene which is associated with higher malignant risk. Knowledge of his underlying mutation allowed the patient and his family to receive appropriate gene-specific counselling and surveillance.Entities:
Mesh:
Year: 2011 PMID: 22670000 PMCID: PMC3246175 DOI: 10.1136/bcr.11.2011.5170
Source DB: PubMed Journal: BMJ Case Rep ISSN: 1757-790X