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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Detalles Bibliográficos
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
Descripción
Sumario: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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