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      Situs inversus totalis in an asymptomatic adolescent - importance of patient education: A case report

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          Abstract

          BACKGROUND

          Situs inversus totalis (SIT) may be an incidental finding in asymptomatic children. Patients may not understand the implications of this condition and the importance of relaying the diagnosis to their healthcare providers.

          CASE SUMMARY

          We report an asymptomatic seventeen-year-old adolescent with previously-diagnosed SIT who presented for a routine well-child visit. During history taking, he denied any past medical conditions, including cardiovascular conditions. Only when physical exam revealed point of maximal impulse and heart sounds on the right side, did he convey that he had been diagnosed with SIT incidentally at age of 12 years. He was not aware of associated conditions or the potential implications of his diagnosis, nor did he realize it is pertinent medical history to be relayed to healthcare providers. Chest X-ray confirmed dextrocardia and abdominal X-ray showed right-sided stomach. Abdomen sonogram showed left-sided liver and right-sided spleen. Echocardiogram showed normal valvular structure and function. A comprehensive discussion was provided to address the patient’s lack of understanding that SIT is a medical diagnosis with potential implications.

          CONCLUSION

          While SIT is rare and mostly asymptomatic, affected patients may not comprehend the importance of the diagnosis and its potential ramifications. Recognition of the patient’s lack of awareness allows the healthcare provider to educate the patient and hopefully can prevent potential medical and surgical complications.

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          Most cited references20

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          Situs Inversus Totalis: A Clinical Review

          Situs inversus totalis is a rare congenital abnormality characterized by a mirror-image transposition of both the abdominal and the thoracic organs. While this anomaly is known since the ancient times, practicing doctors do not have much experience with it. Laterality is established early in development, and any failure in that process might lead to a wide variety of disorders which may be partial or complete. Situs solitus describes the normal anatomy, situs inversus is the complete reversal, and situs ambiguous is used for any other abnormality of left-right development. Sidedness is regulated by genes: over 100 genes have been linked to laterality defects. Frequency of situs inversus is 1:10,000 and is more frequent in males: 1.5:1. Advanced imaging modalities can be used to assess fine anatomical details, which play a crucial role in these cases to plan radiologic or surgical interventions. Percutaneous biliary procedures, portal vein embolization are really challenging procedures in SIT patients due to the mirror effect. As most surgeons are right-handed, SIT operations can cause difficulties: handling the instruments with their left hand or the pedals with their left foot can be uncomfortable Organ, especially liver transplantation represents an extraordinary surgical challenge. Solutions to overcome the anatomic differences include the use of segment or reduced size graft with rotation, modified piggy-back technique, side to-side caval anastomosis, and vascular conduit. Because of its rarity and special nature, surgical patients with situs inversus may require more flexibility and creativity from the surgical team.
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            Human laterality disorders.

            Heterotaxia is a group of congenital disorders characterized by a misplacement of one or more organs according to the left-right axis. Bilateral asymmetry of internal organs is conserved among all vertebrate species. Analyses in animal models such as mouse, chicken, frog and zebrafish allowed for a remarkable progress of knowledge on the embryonic and genetic mechanisms underlying internal left-right asymmetry. In this review we focus on the insights from these model organisms that are useful for a better understanding of the etiology and pathogenesis of human heterotaxia. The known causes of human heterotaxia are reviewed and situated within the conceptual framework that originates from vertebrate model organisms. Furthermore, we attempt to apply the rapidly increasing insights gained from both animal models and human genetics to clinical practice in order to contribute to a more accurate conceptual classification, genetic diagnosis and counseling.
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              Situs revisited: imaging of the heterotaxy syndrome.

              Situs anomalies present a diagnostic challenge to radiologists because of the overlapping spectrum of findings commonly seen in asplenia and polysplenia. In a series of 21 patients with a diagnosis of heterotaxy syndrome, all 11 asplenic patients and seven of 10 polysplenic patients had congenital heart disease. Although there was a variety of complex congenital heart disease, the most common type in both patient groups was a common atrioventricular canal. In both groups, the laterality of the aorta and stomach was quite variable, but intestinal malrotation was a constant feature. In 11 asplenic patients, the most frequent findings were a bridging liver (10 cases), absent spleen (10 cases), and left-sided inferior vena cava (nine cases). Only seven of these patients had an aorta ipsilateral to the inferior vena cava, contrary to previous thought that this finding was specific for asplenia. In the 10 polysplenic patients, bridging livers were less frequent (five cases), single (six cases) or multiple (four cases) spleens were seen, and azygous continuation with interruption of the inferior vena cava was usually present (eight cases). Although not pathognomonic of polysplenia, inferior vena cava interruption with azygous or hemiazygous continuation is the most common anatomic finding of this condition. Although the terms asplenia and polysplenia are helpful in suggesting the typical anatomy, both syndromes encompass an overlapping spectrum that needs to be described individually and may best be called heterotaxy syndrome.
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                Author and article information

                Contributors
                Journal
                World J Clin Pediatr
                WJCP
                World Journal of Clinical Pediatrics
                Baishideng Publishing Group Inc
                2219-2808
                9 December 2023
                9 December 2023
                : 12
                : 5
                : 359-364
                Affiliations
                Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32608, United States. lauren.hayashi@ 123456ufl.edu
                Division of General Pediatrics, Department of Pediatrics, University of Florida, Gainesville, FL 32608, United States
                Author notes

                Author contributions: Hayashi LC and Acharya R were involved in the acquisition of the clinical data, analysis, writing, interpretation and revision.

                Corresponding author: Lauren C. Hayashi, MS, Researcher, Department of Pediatrics, University of Florida College of Medicine, No. 1104 Newell Drive, Gainesville, FL 32608, United States. lauren.hayashi@ 123456ufl.edu

                Article
                jWJCP.v12.i5.pg359 86121
                10.5409/wjcp.v12.i5.359
                10762603
                c0fd8d21-1f1d-48bf-b19a-73fbf4165fd4
                ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.

                This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial.

                History
                : 6 June 2023
                : 9 September 2023
                : 26 September 2023
                Categories
                Case Report

                situs inversus,dextrocardia,adolescent,education,case report

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