Objective: The purpose of this article is to describe a patient with a previously undiagnosed rare anomaly, total situs inversus (TSI), and discuss the range of clinical presentations and complications associated with this and other situs anomalies. An emphasis is directed toward educating the clinician concerning the potential diagnostic challenges posed by patients with TSI and the need for patient education.
Clinical Features: The patient was a 26-year-old white woman who presented to a chiropractic teaching clinic for a scoliosis evaluation and underwent full-spine radiography. The cardiac silhouette and gastric air bubble were evident on the right side.
Intervention And Outcome: Radiography including a 2-view chest and 1-view abdomen series was performed. Examination showed a complete mirror image presentation of the cardiothoracic and visceral organs. The patient was informed of her diagnosis and associated complications and counseled concerning how typical health complaints may present atypically in patients with situs anomalies. The patient has not experienced complications associated with the TSI.
Conclusion: Total situs inversus is a rare autosomal recessive anomaly. This article highlights the classification and nomenclature of situs anomalies and their clinical presentations and complications. In addition, the importance of thorough patient education and counseling in those with situs anomalies is emphasized.
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http://dx.doi.org/10.1016/j.jmpt.2009.03.007 | DOI Listing |
Cureus
December 2024
Pulmonology, Algemeen Ziekenhuis Glorieux, Ronse, BEL.
Heterotaxy syndrome is characterized by abnormal left-right arrangement of thoracoabdominal organs and is frequently associated with complex cardiac anomalies. However, cases with predominant extracardiac manifestations are increasingly recognized. This report describes a 20-year-old female of North African descent with consanguineous parentage, who presented with chronic cough and exertional dyspnea persisting over several years.
View Article and Find Full Text PDFAnn Pediatr Cardiol
December 2024
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Introduction: 22q11.2 deletion is associated with conotruncal anomalies and immunological aberrations. Given the common embryonic origin of conotruncus and thymus, conotruncal anomalies may be associated with immunological aberrations irrespective of 22q11.
View Article and Find Full Text PDFRadiol Case Rep
March 2025
Advanced Radiology Services, P.C., Grand Rapids, Michigan.
"Situs inversus with levocardia" refers to the mirror-image lateral orientation of the abdominal organs with a normally oriented, left-sided heart. This anatomical anomaly arises from abnormalities in the biochemical signaling systems mediating embryological development. We present a case of situs inversus with levocardia incidentally discovered in a healthy 24-year-old male during workup following a motor vehicle collision.
View Article and Find Full Text PDFInt J Biol Sci
January 2025
Department of Basic & Translational Sciences, School of Dental Medicine, University of Pennsylvania, USA.
Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and phagocytosis. Mutations in cause Joubert and Meckel-Gruber syndromes in humans; these are characterized by brain malformations, microphthalmia, situs inversus, skeletal abnormalities, and polydactyly. Recent studies have demonstrated the key role of INPP5E in governing intracellular processes like endocytosis, exocytosis, vesicular trafficking, and membrane dynamics.
View Article and Find Full Text PDFCureus
December 2024
General Surgery, Jordanian Royal Medical Services, Amman, JOR.
The biliary system exhibits significant anatomical variations, which pose challenges for most surgeons during cholecystectomy. Among these variations, a true left-sided gallbladder (LSG) is an uncommon finding. In such cases, the gallbladder is located to the left of the round ligament.
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