Megan L. Ringle, Rohit Loomba, John C. Dykes, Danyal Khan, David Schidlow, Gil Wernovsky
Lucile Packard Children’s Hospital and Stanford University School of Medicine. Advocate Children’s Hospital and Chicago Medical School. Nicklaus Children’s Hospital. Boston Children’s Hospital and Harvard Medical School. Children’s National Hospital.
United States
Cardiology in the Young
Cardiol Young 2021; 31: 532-540
DOI: 10.1017/S1047951121000809
Abstract
Isomerism, also referred to as “heterotaxy” is a complex set of anatomic and functional perturbations. One of the most obvious manifestations of isomerism is the disturbance of organ arrangement, such that the thoracic organs are no longer asymmetric on the left and right. We report the case of a 14-year-old female in whom exercise-induced dyspnea led to a late diagnosis of left isomerism complicated by Abernethy malformation and portopulmonary hypertension. A comprehensive evaluation revealed two anatomic left lungs and hyparterial bronchi, bilateral left atria, an interrupted inferior caval vein with azygos continuation, multiple spleens, sinus node dysfunction, 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 isomerism with Abernethy malformation and portopulmonary hypertension. The patient’s presentation, medical workup, and future treatment emphasise the importance of multidisciplinary care in children with complex multisystem disease. We review the multiple cardiac and extracardiac manifestations of isomerism.
Category
Class I. Pulmonary Hypertension Associated with Congenital Cardiovascular Disease
Class I. Pulmonary Hypertension Associated with Liver Disease
Symptoms and Findings Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: No