A case of chronic thromboembolic pulmonary hypertension (CTEPH) with antithrombin III deficiency / 대한내과학회지
Korean Journal of Medicine
;
: 691-696, 2010.
Artículo
en Coreano
| WPRIM
| ID: wpr-108498
ABSTRACT
Presented is a case study of a 39-year-old man with chronic thromboembolic pulmonary hypertension (CTEPH) and an underlying antithrombin III (AT III) deficiency. The subject presented with severe dyspnea (NYHA functional class III). A diagnostic workup led to a diagnosis of pulmonary thromboembolism and severe pulmonary hypertension with right ventricular failure. Genetic analysis revealed a novel nonsense mutation (c.243G>A) in SERPINC1. Pulmonary thromboendarterectomy was performed following the insertion of an inferior vena cava filter. After one year, the subject remained in NYHA functional class I and exhibited normal right ventricular function. This is the first report of a genetically confirmed AT III deficiency complicated by CTEPH in Korea.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Embolia Pulmonar
/
Antitrombina III
/
Filtros de Vena Cava
/
Función Ventricular Derecha
/
Codón sin Sentido
/
Deficiencia de Antitrombina III
/
Disnea
/
Endarterectomía
/
Hipertensión Pulmonar
/
Corea (Geográfico)
Límite:
Adulto
/
Humanos
País/Región como asunto:
Asia
Idioma:
Coreano
Revista:
Korean Journal of Medicine
Año:
2010
Tipo del documento:
Artículo
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