Characterization of Anatomical and Cardiac Abnormalities in Heterotaxy Syndrome: A Retrospective Study

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Objectives: Heterotaxy Syndrome is a rare and complex congenital condition characterized by abnormal arrangement of thoraco-abdominal organs and associated congenital heart disease. This study aims to define the spectrum of extra-cardiac and cardiac abnormalities and to elucidate the anatomical diversity within Heterotaxy Syndrome. Methodology: This retrospective study, conducted at a tertiary cardiac care facility, involved identifying patients with Heterotaxy Syndrome based on scintigraphy, ultrasound imaging, and cardiac lab reports between April 2023 and December 2023. Results: The study included 71 patients. Situs Ambiguus was observed in 98.6% of cases. Levocardia was present in 53.5% of patients, while Dextrocardia was found in 43.7%. Polysplenia was noted in 53.5% of patients, with the remaining patients exhibiting asplenia. Conclusion: Heterotaxy Syndrome encompasses a wide range of thoraco-abdominal organ abnormalities. To prevent misdiagnosis and ensure effective management, comprehensive imaging and thorough examination are crucial. Accurate diagnosis and management are essential to address the diverse manifestations of this syndrome.

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