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Co-occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager.
Ferguson, Richard; Scurr, Ingrid; Ours, Christopher A; Johnston, Jennifer J; Pike, Katharine; Spentzou, Georgia.
Afiliação
  • Ferguson R; Department of Pediatric Cardiology, Bristol Royal Hospital for Children, Bristol, UK.
  • Scurr I; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
  • Ours CA; Center for Precision Health Research, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Johnston JJ; Center for Precision Health Research, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Pike K; Department of Pediatric Respiratory Medicine, Bristol Royal Hospital for Children, Bristol, UK.
  • Spentzou G; Department of Pediatric Cardiology, Bristol Royal Hospital for Children, Bristol, UK.
Am J Med Genet A ; 191(5): 1430-1433, 2023 05.
Article em En | MEDLINE | ID: mdl-36808868
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Proteu / Taquicardia Ventricular / Parada Cardíaca Tipo de estudo: Diagnostic_studies Limite: Adolescent / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Proteu / Taquicardia Ventricular / Parada Cardíaca Tipo de estudo: Diagnostic_studies Limite: Adolescent / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Reino Unido