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Heterotaxy Syndrome: Discordant Growth

Heterotaxy syndrome implies a discordance between placement of thoracic organs with respect to abdominal organs. A large number of these have associated congenital heart defects. This syndrome is unique as every patient is different and can have any permutation and combination of symptoms. In our ca...

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Autores principales: Yadav, Pratiksha, Ajmera, Pranav, Krishnamurthy, Sruthi, Nandivada, Nikhil B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8164680/
https://www.ncbi.nlm.nih.gov/pubmed/34094731
http://dx.doi.org/10.7759/cureus.14766
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author Yadav, Pratiksha
Ajmera, Pranav
Krishnamurthy, Sruthi
Nandivada, Nikhil B
author_facet Yadav, Pratiksha
Ajmera, Pranav
Krishnamurthy, Sruthi
Nandivada, Nikhil B
author_sort Yadav, Pratiksha
collection PubMed
description Heterotaxy syndrome implies a discordance between placement of thoracic organs with respect to abdominal organs. A large number of these have associated congenital heart defects. This syndrome is unique as every patient is different and can have any permutation and combination of symptoms. In our case, the five-year-old male child presented with complaints of abdominal distension, fever, and bluish discoloration of limbs with even mild exertion. Radiological evaluation was diagnosed with a large atrial septal defect, cardiomegaly, partial pulmonary venous circulation, multiple small spleens on the right side of body, a large midline liver, malrotated bowel, inferiorly displaced kidneys, and two hemiazygos veins. The echocardiography and electrocardiogram too were consistent with atrial septal defect and right ventricular strain pattern. The reasons for this highly variable pattern are rooted in the genetically complicated process of lateralization with a strong link to the copy number variations. Due to the variable patterns, it is more efficient to report all the findings utilizing a step-by-step process of commenting on each and every individual organ, instead of classifying them under different categories based on atrial isomerism. This is important as any other way of classification predisposes to a certain bias.
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spelling pubmed-81646802021-06-03 Heterotaxy Syndrome: Discordant Growth Yadav, Pratiksha Ajmera, Pranav Krishnamurthy, Sruthi Nandivada, Nikhil B Cureus Pediatrics Heterotaxy syndrome implies a discordance between placement of thoracic organs with respect to abdominal organs. A large number of these have associated congenital heart defects. This syndrome is unique as every patient is different and can have any permutation and combination of symptoms. In our case, the five-year-old male child presented with complaints of abdominal distension, fever, and bluish discoloration of limbs with even mild exertion. Radiological evaluation was diagnosed with a large atrial septal defect, cardiomegaly, partial pulmonary venous circulation, multiple small spleens on the right side of body, a large midline liver, malrotated bowel, inferiorly displaced kidneys, and two hemiazygos veins. The echocardiography and electrocardiogram too were consistent with atrial septal defect and right ventricular strain pattern. The reasons for this highly variable pattern are rooted in the genetically complicated process of lateralization with a strong link to the copy number variations. Due to the variable patterns, it is more efficient to report all the findings utilizing a step-by-step process of commenting on each and every individual organ, instead of classifying them under different categories based on atrial isomerism. This is important as any other way of classification predisposes to a certain bias. Cureus 2021-04-30 /pmc/articles/PMC8164680/ /pubmed/34094731 http://dx.doi.org/10.7759/cureus.14766 Text en Copyright © 2021, Yadav et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Pediatrics
Yadav, Pratiksha
Ajmera, Pranav
Krishnamurthy, Sruthi
Nandivada, Nikhil B
Heterotaxy Syndrome: Discordant Growth
title Heterotaxy Syndrome: Discordant Growth
title_full Heterotaxy Syndrome: Discordant Growth
title_fullStr Heterotaxy Syndrome: Discordant Growth
title_full_unstemmed Heterotaxy Syndrome: Discordant Growth
title_short Heterotaxy Syndrome: Discordant Growth
title_sort heterotaxy syndrome: discordant growth
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8164680/
https://www.ncbi.nlm.nih.gov/pubmed/34094731
http://dx.doi.org/10.7759/cureus.14766
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