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Case report
Late survival in Ellis-van Creveld syndrome with common single atrium
  1. Kesar Prajapati1,
  2. Jaya Pathak1,
  3. Vikranti Sailor2 and
  4. Parth Adrejiya2
  1. 1Medicine, Baroda Medical College, Vadodara, Gujarat, India
  2. 2Medicine department, Baroda Medical College, Vadodara, Gujarat, India
  1. Correspondence to Dr Kesar Prajapati; kesarprajapati10694{at}gmail.com

Abstract

Ellis-van Creveld (EVC) syndrome is a relatively rare chondroectodermal dysplasia considered mainly as a generalised disorder of the maturation of endochondral ossification. Congenital heart disease occurs in approximately half of the patients with EVC syndrome, 60% of which is a common atrium. Common atrium is a rare variety of interatrial communication characterised by absence or virtual absence of the atrial septum. Patients with this syndrome rarely survive to an old age. We report a case of EVC who presented for the first time at 60 years of age, as survival to an advanced age is exceptional in case of EVC.

  • medical education
  • medical management
  • genetic screening / counselling
  • cardiovascular medicine

https://doi.org/10.1136/bcr-2020-239663

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    Footnotes

    • Contributors KP diagnosed the case under the guidance of JP. KP wrote case report. KP did literature finding. KP, VS and PA did editing.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Parental/guardian consent obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.