Megan L Ringle
Miami Children’s Health System, USA
Title: A Case Report of Heterotaxy Syndrome Complicated by Abernethy Syndrome and Portopulmonary Hypertension
Biography
Biography: Megan L Ringle
Abstract
Objective: To describe a unique case of heterotaxy syndrome complicated with Abernethy syndrome and a late diagnosis Methods: Literature review of heterotaxy syndrome, portopulmonary hypertension, and Abernethy syndrome Heterotaxy is a complex set of birth defects in which the normal concordance of asymmetric thoracic and abdominal organs is disturbed1. Typical manifestations include abnormal arrangement of organs, congenital cardiac heart disease, and extracardiac defects involving midline structures2. We report the case of a 14-year-old female in whom exercise-induced dyspnea due to pulmonary hypertension led to a diagnosis of heterotaxy complicated by Abernethy Syndrome and portopulmonary hypertension. After extensive workup she was found to have left isomerism consisting of two anatomic left lungs and hyparterial bronchi, bilateral left atria, an interrupted inferior vena cava with azygos continuation, multiple spleens, hepatic hypertrophy with focal nodular hyperplasia, and absence of the portal vein. Pulmonary vasodilator therapy was initiated resulting in clinical improvement. This case exhibits unique features including a late diagnosis of heterotaxy with Abernethy syndrome and portopulmonary hypertension. The patient’s presentation, medical workup, and future treatment emphasize the importance of multidisciplinary care in pediatrics.