Literature DB >> 36268408

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

Sidra Naz1,2, Ammu Thampi Susheela3, Vikash Jaiswal4,5, Jon Quinonez5, Srushti Patel6, Abhigan Babu Shrestha7.   

Abstract

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.
© 2022 The Authors.

Entities:  

Keywords:  Klippel Feil Syndrome; Paediatrics; Pathology

Year:  2022        PMID: 36268408      PMCID: PMC9577450          DOI: 10.1016/j.amsu.2022.104546

Source DB:  PubMed          Journal:  Ann Med Surg (Lond)        ISSN: 2049-0801


  6 in total

1.  Klippel-Feil syndrome associated with aortic coarctation.

Authors:  R H Falk; J Mackinnon
Journal:  Br Heart J       Date:  1976-11

2.  Congenital complete heart block in Klippel-Feil syndrome.

Authors:  Raja Saravanan Elumalai; Madhu Sankar Nainar; Kirthivasan Vaidyanathan; Ganesh Somasundaram; Govini Balasubramaniam
Journal:  Asian Cardiovasc Thorac Ann       Date:  2013-04

3.  The SCARE 2020 Guideline: Updating Consensus Surgical CAse REport (SCARE) Guidelines.

Authors:  Riaz A Agha; Thomas Franchi; Catrin Sohrabi; Ginimol Mathew; Ahmed Kerwan
Journal:  Int J Surg       Date:  2020-11-09       Impact factor: 6.071

Review 4.  Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies.

Authors:  J N Bavinck; D D Weaver
Journal:  Am J Med Genet       Date:  1986-04

5.  Klippel-Feil syndrome: A very unusual cause of severe aortic regurgitation visualized by multimodality imaging.

Authors:  Monica Ahluwalia; Sankalp Sehgal; Alan F Vainrib; Robert Applebaum; Larry Latson; Mathew R Williams; Muhamed Saric
Journal:  Echocardiography       Date:  2019-06-27       Impact factor: 1.724

6.  Klippel - Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature.

Authors:  Ramush Bejiqi; Ragip Retkoceri; Hana Bejiqi; Naim Zeka
Journal:  Open Access Maced J Med Sci       Date:  2015-02-11
  6 in total

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