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Early identification of SOX17 deficiency in infants to guide management of heritable pulmonary arterial hypertension using PDA stent to create reverse Potts shunt physiology.
Ostler, Heidi; Fall, Carolyn; El-Said, Howaida; Justino, Henri; Haldeman, Shylah; Carroll, Jeanne; Rao, Rohit.
Affiliation
  • Ostler H; Department of Pediatrics, Division of Pediatric Cardiology, Rady Children's Hospital University of California San Diego California USA.
  • Fall C; Department of Pediatrics, Division of Pediatric Cardiology, Rady Children's Hospital University of California San Diego California USA.
  • El-Said H; Department of Pediatrics, Division of Pediatric Cardiology, Rady Children's Hospital University of California San Diego California USA.
  • Justino H; Department of Pediatrics, Division of Pediatric Cardiology, Rady Children's Hospital University of California San Diego California USA.
  • Haldeman S; Department of Pediatrics, Division of Pediatric Cardiology Rady Children's Hospital San Diego California USA.
  • Carroll J; Department of Pediatrics, Division of Pediatric Cardiology, Rady Children's Hospital University of California San Diego California USA.
  • Rao R; Department of Pediatrics, Division of Pediatric Cardiology, Rady Children's Hospital University of California San Diego California USA.
Pulm Circ ; 14(2): e12366, 2024 Apr.
Article de En | MEDLINE | ID: mdl-38655005
ABSTRACT
Heritable pulmonary arterial hypertension (HPAH) is a rare progressive condition that includes patients with an identified genetic cause of pulmonary arterial hypertension (PAH). HPAH and idiopathic PAH (IPAH) have an estimated combined incidence of 0.5-0.9 cases per million children-years. Several pathogenic variants have been associated with HPAH in children and adults, including genes BMPR2, TBX4, and ACVRL1, and more rarely with variants in genes such as SOX17. HPAH is often difficult to manage and has poor prognosis despite advances in medical therapy with many patients progressing to lung transplantation, right heart failure and death. Surgical and transcatheter Potts shunt creation can reduce systolic burden and has shown reduction in morbidity and mortality in children. Early genetic testing can provide both diagnostic and prognostic value in managing and counseling children with severe PAH and it can guide transcatheter or surgical management in refractory cases despite maximal medical therapies. We describe a patient with HPAH (SOX17 mutation) who underwent percutaneous patent ductus arteriosus stent for right ventricle decompression at 2 months of age with clinical management guidance by genetic testing results.
Mots clés

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Langue: En Journal: Pulm Circ Année: 2024 Type de document: Article Pays de publication: États-Unis d'Amérique

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Langue: En Journal: Pulm Circ Année: 2024 Type de document: Article Pays de publication: États-Unis d'Amérique