Holt Oram syndrome in a pediatric patient

Holt Oram syndrome TBX5 gene mutation congenital heart disease

Authors

  • Irwing Rivera
    irwinrivera1904@gmail.com
    Departamento de Pediatría, Hospital Roosevelt, Guatemala, Guatemala., Guatemala
  • Melissa Linares Departamento de Pediatría, Hospital Roosevelt, Guatemala, Guatemala., Guatemala
  • Isabel Galdámez Departamento de Pediatría, Hospital Roosevelt, Guatemala, Guatemala., Guatemala
  • Celia Martínez Departamento de Pediatría, Hospital Roosevelt, Guatemala, Guatemala., Guatemala
July 4, 2022
December 11, 2022

Holt Oram syndrome is an autosomal dominant disorder. It is characterized by skeletal abnormalities, structural cardiac abnormalities, and cardiac conduction alterations. These abnormalities are secondary to mutations in the TBX5 gene, which is res