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

Richard Ferguson; Ingrid Scurr; Christopher A. Ours; Jennifer J. Johnston; Katharine Pike; Georgia Spentzou

doi:10.1002/ajmg.a.63151

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

Richard Ferguson, Ingrid Scurr, Christopher A. Ours, Jennifer J. Johnston, Katharine Pike, Georgia Spentzou^*

^*Corresponding author for this work

Bristol Medical School (PHS)

Research output: Contribution to journal › Article (Academic Journal) › peer-review

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.

Original language	English
Pages (from-to)	1430-1433
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	191
Issue number	5
Early online date	20 Feb 2023
DOIs	https://doi.org/10.1002/ajmg.a.63151
Publication status	Published - 1 May 2023

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Publisher Copyright:
© 2023 Wiley Periodicals LLC.

Keywords

cardiac arrest
Proteus syndrome
ventricular tachycardia

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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.",

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AU - Ours, Christopher A.

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AU - Pike, Katharine

AU - Spentzou, Georgia

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AB - 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.

KW - cardiac arrest

KW - Proteus syndrome

KW - ventricular tachycardia

UR - https://www.scopus.com/pages/publications/85148532833

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

Abstract

Bibliographical note

Keywords

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