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The multisystem nature of isomerism: left isomerism complicated by Abernethy malformation and portopulmonary hypertension

Published online by Cambridge University Press:  18 March 2021

Megan L. Ringle*
Division of Neonatal and Developmental Medicine, Lucile Packard Children’s Hospital, Stanford University School of Medicine, Palo Alto, CA, USA
Rohit Loomba
Division of Cardiology, Advocate Children’s Hospital, Chicago, IL, USA Division of Cardiology, Chicago Medical School, Chicago, IL, USA
John C. Dykes
Division of Cardiology, Lucile Packard Children’s Hospital, Stanford Uiversity School of Medicine, Palo Alto, CA, USA
Danyal Khan
Department of Pediatric Cardiology, Nicklaus Children’s Hospital, Miami, FL, USA
David Schidlow
Department of Cardiology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA
Gil Wernovsky
Divisions of Cardiac Critical Care and Pediatric Cardiology, Children’s National Hospital, Washington, DC, USA
Author for correspondence: M. L. Ringle, MD, MPH, Division of Neonatal and Developmental Medicine, Lucile Packard Children’s Hospital, Stanford University School of Medicine, 750 Welch Rd, Suite 315, Palo Alto, CA 94304, USA. Tel: 650-724-9954; Fax: 650-725-6581. E-mail:


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.

© The Author(s), 2021. Published by Cambridge University Press

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