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

Author:

Ferguson Richard1,Scurr Ingrid2,Ours Christopher A.3ORCID,Johnston Jennifer J.3,Pike Katharine4,Spentzou Georgia1ORCID

Affiliation:

1. Department of Pediatric Cardiology Bristol Royal Hospital for Children Bristol UK

2. Department of Clinical Genetics University Hospitals Bristol and Weston NHS Foundation Trust Bristol UK

3. Center for Precision Health Research National Human Genome Research Institute Bethesda Maryland USA

4. Department of Pediatric Respiratory Medicine Bristol Royal Hospital for Children Bristol UK

Abstract

AbstractProteus 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.

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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