A case of chronic thromboembolic pulmonary hypertension (CTEPH) with antithrombin III deficiency / 대한내과학회지
Korean Journal of Medicine
;
: 691-696, 2010.
Article
in Korean
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pulmonary Embolism
/
Antithrombin III
/
Vena Cava Filters
/
Ventricular Function, Right
/
Codon, Nonsense
/
Antithrombin III Deficiency
/
Dyspnea
/
Endarterectomy
/
Hypertension, Pulmonary
/
Korea
Limits:
Adult
/
Humans
Country/Region as subject:
Asia
Language:
Korean
Journal:
Korean Journal of Medicine
Year:
2010
Type:
Article
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