Co-occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager

Am J Med Genet A. 2023 May;191(5):1430-1433. doi: 10.1002/ajmg.a.63151. Epub 2023 Feb 20.

Abstract

Proteus syndrome is an extremely rare overgrowth condition caused by a somatic variant of the AKT1 gene. It can involve multiple organ systems though rarely is there symptomatic cardiac involvement. Fatty infiltration of the myocardium has been described but has not been reported to cause functional or conduction abnormalities. We present an individual with Proteus syndrome who suffered a sudden cardiac arrest.

Keywords: Proteus syndrome; cardiac arrest; ventricular tachycardia.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Arrhythmias, Cardiac
  • Death, Sudden, Cardiac
  • Heart Arrest* / diagnosis
  • Heart Arrest* / genetics
  • Humans
  • Proteus Syndrome* / complications
  • Proteus Syndrome* / diagnosis
  • Proteus Syndrome* / genetics
  • Tachycardia, Ventricular* / diagnosis
  • Tachycardia, Ventricular* / genetics