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Novel Phenotypic Effects of a Rare SCN5A (c.2482C>T) Mutation.
Schwartzman, Kathryn H; Nayak, Hemal M; Kohli, Utkarsh.
Afiliação
  • Schwartzman KH; West Virginia University School of Medicine, Morgantown, West Virginia, USA.
  • Nayak HM; Division of Cardiology, University of Texas Health, San Antonio, Texas, USA.
  • Kohli U; Division of Pediatric Critical Care Medicine, Department of Pediatrics, West Virginia University School of Medicine and West Virginia University Children's Hospital, Morgantown, West Virginia, USA.
JACC Case Rep ; 29(4): 102212, 2024 Feb 21.
Article em En | MEDLINE | ID: mdl-38379642
ABSTRACT
In a familial cohort with 8 heterozygous carriers of a rare pathogenic SCN5A mutation (c.2482C>T), 4 female mutation carriers manifested with fetal ventricular tachycardia and 21 atrioventricular block. One presented with multifocal ectopic premature Purkinje-related complexes-like phenotype and atrial fibrillation later in life. These novel findings inform the need for robust fetal monitoring of mutation carriers.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: JACC Case Rep Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: JACC Case Rep Ano de publicação: 2024 Tipo de documento: Article