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

Sidra Naz; Ammu Thampi Susheela; Vikash Jaiswal; Jon Quinonez; Srushti Patel; Abhigan Babu Shrestha

doi:10.1016/j.amsu.2022.104546

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

Ann Med Surg (Lond). 2022 Sep 8:82:104546. doi: 10.1016/j.amsu.2022.104546. eCollection 2022 Oct.

Authors

Sidra Naz^{1

2}, Ammu Thampi Susheela³, Vikash Jaiswal^{4

5}, Jon Quinonez⁵, Srushti Patel⁶, Abhigan Babu Shrestha⁷

Affiliations

¹ University of Health Science, Lahore, Pakistan.
² The University of Texas, MD Anderson Cancer Center, Texas, USA.
³ Department of Internal Medicine, Loyola-MacNeal Hospital, IL, USA.
⁴ AMA School of Medicine, Makati, Philippines.
⁵ Larkin Community Hospital, South Miami, FL, USA.
⁶ Gujarat Medical Education and Research Society (GMERS) Medical College, India.
⁷ M Abdur Rahim Medical College, Dinajpur, Bangladesh.

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.

Keywords: Klippel Feil Syndrome; Paediatrics; Pathology.

Publication types

Case Reports