A case of chronic thromboembolic pulmonary hypertension (CTEPH) with antithrombin III deficiency.
- Author:
Mirae LEE
1
;
Mi Yeon KIM
;
Sun Youn BAE
;
Ho Jung CHUNG
;
Pyo Won PARK
;
Hee Jin KIM
;
Duk Kyung KIM
Author Information
1. Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. dkkim@skku.edu
- Publication Type:Case Report
- Keywords:
Antithrombin III deficiency;
Pulmonary thromboembolism;
Thromboendarterectomy
- MeSH:
Adult;
Antithrombin III;
Antithrombin III Deficiency;
Codon, Nonsense;
Dyspnea;
Endarterectomy;
Humans;
Hypertension, Pulmonary;
Korea;
Pulmonary Embolism;
Vena Cava Filters;
Ventricular Function, Right
- From:Korean Journal of Medicine
2010;79(6):691-696
- CountryRepublic of Korea
- Language:Korean
-
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.
