Genetic basis of pulmonary arterial hypertension: Bases genéticas de la hipertensión arterial pulmonar

• Autores: Castro-Mujica, Maria del Carmen, Abarca Barriga, Hugo
• Formato: artículo
• Fecha de Publicación: 2020
• Institución: Universidad Ricardo Palma
• Repositorio: Revistas - Universidad Ricardo Palma
• Lenguaje: español; inglés
• OAI Identifier: oai:oai.revistas.urp.edu.pe:article/2946
• Enlace del recurso: http://revistas.urp.edu.pe/index.php/RFMH/article/view/2946
• Nivel de acceso: acceso abierto
• Materia: Hipertensión pulmonar, asesoramiento genético (fuente: DeCS)

Pulmonary arterial hypertension (PAH) is a heterogeneous disease where genes play an important role. Hereditary PAH (PAH) is defined as a genetic condition of autosomal dominant manner, incomplete penetrance, variable expressivity, and which cases of familial PAH are defined by the presence of two or more family members with PAH with or without an identified germline variant and cases of idiopathic PAH corresponding to isolated cases in the family with an identified germline variant. To establish the diagnosis of hAPH, it is necessary to confirm the diagnosis in at least two relatives (HAPf) or identify the germline variant in an isolated case in the family (HAPi).