The Efficacy of a Genetic Analysis of the BMPR2 Gene in a Patient with Severe Pulmonary Arterial Hypertension and an Atrial Septal Defect Treated with Bilateral Lung Transplantation.
Intern Med
; 56(23): 3193-3197, 2017 Dec 01.
Article
en En
| MEDLINE
| ID: mdl-29021450
ABSTRACT
Severe pulmonary arterial hypertension (PAH) rarely develops in children with an atrial septal defect (ASD), even those with a large defect. We herein report the case of a 27-year-old man with a moderate-sized secundum ASD and right ventricular failure due to severe PAH, which developed in his early teens. He was diagnosed as having a genetic mutation of the bone morphogenetic protein receptor-2 (BMPR2) gene and was successfully treated with bilateral lung transplantation with ASD path closure. In patients with congenital heart disease, a genetic analysis may provide information about the lifetime risk of developing PAH.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Receptores de Proteínas Morfogenéticas Óseas de Tipo II
/
Cardiopatías Congénitas
/
Defectos del Tabique Interatrial
/
Hipertensión Pulmonar
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Intern Med
Asunto de la revista:
MEDICINA INTERNA
Año:
2017
Tipo del documento:
Article
País de afiliación:
Japón