Heterotaxia Syndromes



Heterotaxia Syndromes


Eva Ilse Rubio, MD



DIFFERENTIAL DIAGNOSIS


Common



  • Total Situs Inversus


Less Common



  • Left-Sided Isomerism


  • Right-Sided Isomerism


ESSENTIAL INFORMATION


Helpful Clues for Common Diagnoses



  • Total Situs Inversus



    • All nonsymmetric organs (cardiac structures, lungs, liver, spleen, stomach) are exactly reversed from normal


    • Estimated occurrence = .01% of general population



      • Risk of congenital heart disease slightly more common than general population


    • May be seen in Kartagener syndrome


Helpful Clues for Less Common Diagnoses



  • Left-Sided Isomerism



    • Slightly more common in females


    • Significantly better prognosis


    • Cardiac findings



      • Less severe cardiac disease with normal to increased pulmonary vascularity; usually noncyanotic


      • Common: Interrupted inferior vena cava, bilateral functional left atria, septal defects


      • May have bilateral superior vena cavae


    • Pulmonary findings



      • Bilateral bi-lobed lungs


      • Both main bronchi lie under pulmonary arteries


    • Intraabdominal findings



      • Midline or left-sided liver; may have absent gallbladder


      • Indeterminate/variable stomach position, may be in right upper quadrant


      • Multiple spleens (which may be located right, left, or centrally within abdomen)


      • Malrotation may be present


  • Right-Sided Isomerism



    • Slightly more common in males


    • More dire prognosis


    • Cardiac findings



      • More severe cardiac disease with normal to decreased pulmonary vascularity; often cyanotic


      • Common: Anomalous pulmonary venous return, bilateral functional right atria, atrioventricular canal defects, pulmonary outflow tract obstruction, single ventricle


      • May have bilateral superior vena cavae


    • Pulmonary findings



      • Bilateral tri-lobed lungs


      • Both main bronchi course over pulmonary arteries


    • Intraabdominal findings



      • Midline liver


      • Indeterminate/variable stomach position


      • Absent spleen


      • Malrotation common






Image Gallery









AP radiograph shows dextrocardia image, the stomach in the right upper quadrant image, the liver in the left upper quadrant image, and a right aortic arch displacing the trachea leftward image.

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Aug 10, 2016 | Posted by in PEDIATRICS | Comments Off on Heterotaxia Syndromes

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