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

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.

Congenital Absence of the Portal Vein as a Rare Cause of Portopulmonary Hypertension—A Case Study Series

“…Significant morbidity and mortality may result from PoPH and hepatopulmonary syndrome. Although more publications dedicated to CPSS have been published lately, the vast majority are single case reports or cross-sectional studies without follow-up and a combination of patients with different types of CPSS [ 12 , 13 , 14 , 15 ]. There are only a few cases reporting on the direct association of PoPH with CAPV [ 16 ].…”

“…In cases of CAPV and PAH, liver transplantation is still considered as a primary option and should be accounted for early in the disease course so as to anticipate the development of severe PAH, pulmonary vascular remodelling and subsequent right ventricular dysfunction at the time of transplantation [ 15 ]. Our patients were not candidates for liver transplantation because of mild liver damage, with no possibility of the surgical correction of the shunts.…”

From cis-Lobeline to trans-Lobeline: Study on the Pharmacodynamics and Isomerization Factors

“…It opens up the study of structural chemistry and promoted the development of organic chemistry. Cis-trans isomerism, also known as geometric isomerism, which refers to the diastereoisomerism of the compounds in the molecule due to the restriction of free rotation, is a stereoisomerism in isomerism [ 2 , 3 ]. Generally, trans isomers are more stable than cis isomers.…”