Asymptomatic phaeochromocytoma in a patient with Holt-Oram syndrome: a case report.

ABSTRACT:

Background

Holt-Oram syndrome (HOS) is a rare congenital disease that affects the heart and upper limbs. Phaeochromocytoma, a catecholamine-secreting tumour, is a rare neuroendocrine disorder. We present an interesting case presentation of these two rare disorders in a patient who was asymptomatic for phaeochromocytoma.

Case summary

A 28-year-old woman who was diagnosed at birth with HOS, presented to the hospital with heart failure. She has a past medical history of corrected cyanotic congenital heart disease. She presented with dyspnoea but she did not have headaches, tremors, or diaphoresis. Cardiac magnetic resonance scan was done to investigate the cause of her heart failure and revealed right ventricular systolic dysfunction and a suspicious adrenal lesion. Magnetic re

SUBMITTER: Ng P 

PROVIDER: S-EPMC7026609 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature