Klippel Feil Syndrome presenting with tricuspid regurgitation and cardiopulmonary distress secondary to dysplastic thoracic cage and spine: A case report

BACKGROUND: Klippel Feil syndrome is a rare multifactorial disease that occurs due to a combination of genetic and environmental factors. It is a complex disease that requires lifelong treatment by multidisciplinary teams. CASE REPORT: We present a case of a 15-year-old girl who presented with fever...

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Autores principales: Naz, Sidra, Susheela, Ammu Thampi, Jaiswal, Vikash, Quinonez, Jon, Patel, Srushti, Shrestha, Abhigan Babu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9577450/
https://www.ncbi.nlm.nih.gov/pubmed/36268408
http://dx.doi.org/10.1016/j.amsu.2022.104546
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author Naz, Sidra
Susheela, Ammu Thampi
Jaiswal, Vikash
Quinonez, Jon
Patel, Srushti
Shrestha, Abhigan Babu
author_facet Naz, Sidra
Susheela, Ammu Thampi
Jaiswal, Vikash
Quinonez, Jon
Patel, Srushti
Shrestha, Abhigan Babu
author_sort Naz, Sidra
collection PubMed
description BACKGROUND: Klippel Feil syndrome is a rare multifactorial disease that occurs due to a combination of genetic and environmental factors. It is a complex disease that requires lifelong treatment by multidisciplinary teams. CASE REPORT: We present a case of a 15-year-old girl who presented with fever and shortness of breath and was found to have Klippel Feil Syndrome with a unique presentation of tricuspid regurgitation with cardiopulmonary distress secondary to dysplastic thoracic cage and spine. DISCUSSION: Patients with Klippel feil syndrome are at increased risk for infection and cardiovascular problems. Proper surgical and medical management are required for patient wellbeing. Delay in diagnosis and management can be fatal with worse outcome.
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spelling pubmed-95774502022-10-19 Klippel Feil Syndrome presenting with tricuspid regurgitation and cardiopulmonary distress secondary to dysplastic thoracic cage and spine: A case report Naz, Sidra Susheela, Ammu Thampi Jaiswal, Vikash Quinonez, Jon Patel, Srushti Shrestha, Abhigan Babu Ann Med Surg (Lond) Case Report BACKGROUND: Klippel Feil syndrome is a rare multifactorial disease that occurs due to a combination of genetic and environmental factors. It is a complex disease that requires lifelong treatment by multidisciplinary teams. CASE REPORT: We present a case of a 15-year-old girl who presented with fever and shortness of breath and was found to have Klippel Feil Syndrome with a unique presentation of tricuspid regurgitation with cardiopulmonary distress secondary to dysplastic thoracic cage and spine. DISCUSSION: Patients with Klippel feil syndrome are at increased risk for infection and cardiovascular problems. Proper surgical and medical management are required for patient wellbeing. Delay in diagnosis and management can be fatal with worse outcome. Elsevier 2022-09-08 /pmc/articles/PMC9577450/ /pubmed/36268408 http://dx.doi.org/10.1016/j.amsu.2022.104546 Text en © 2022 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Naz, Sidra
Susheela, Ammu Thampi
Jaiswal, Vikash
Quinonez, Jon
Patel, Srushti
Shrestha, Abhigan Babu
Klippel Feil Syndrome presenting with tricuspid regurgitation and cardiopulmonary distress secondary to dysplastic thoracic cage and spine: A case report
title Klippel Feil Syndrome presenting with tricuspid regurgitation and cardiopulmonary distress secondary to dysplastic thoracic cage and spine: A case report
title_full Klippel Feil Syndrome presenting with tricuspid regurgitation and cardiopulmonary distress secondary to dysplastic thoracic cage and spine: A case report
title_fullStr Klippel Feil Syndrome presenting with tricuspid regurgitation and cardiopulmonary distress secondary to dysplastic thoracic cage and spine: A case report
title_full_unstemmed Klippel Feil Syndrome presenting with tricuspid regurgitation and cardiopulmonary distress secondary to dysplastic thoracic cage and spine: A case report
title_short Klippel Feil Syndrome presenting with tricuspid regurgitation and cardiopulmonary distress secondary to dysplastic thoracic cage and spine: A case report
title_sort klippel feil syndrome presenting with tricuspid regurgitation and cardiopulmonary distress secondary to dysplastic thoracic cage and spine: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9577450/
https://www.ncbi.nlm.nih.gov/pubmed/36268408
http://dx.doi.org/10.1016/j.amsu.2022.104546
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