Evil lurks in the heart of man: cardiac paraganglioma presenting as recurrent dyspnoea and chronic cough.
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.
Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Jessica
J
Moline
Joanne
J
Ngeow
Prabhakar
P
Rajiah
Charis
C
Eng
D002908:Chronic Disease; D003371:Cough / Q000209:etiology; D004417:Dyspnea / Q000209:etiology; D006338:Heart Neoplasms / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male; D008875:Middle Aged; D010236:Paraganglioma, Extra-Adrenal / Q000150:complications* / Q000175:diagnosis; D012008:Recurrence