Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia–associated pulmonary hypertension. (6th August 2013)

• Record Type: Journal Article
• Authors: Chen, Yan‐Jun; Yang, Qing‐Hui; Liu, Dong; Liu, Qian‐Qian; Eyries, Mélanie; Wen, Liang; Wu, Wen‐Hui; Jiang, Xin; Yuan, Ping; Zhang, Rui; Soubrier, Florent; Jing, Zhi‐Cheng
• Is Part Of: European journal of clinical investigation. Volume 43:Number 10(2013:Oct.)
• Page Start: 1016
• Page End: 1024
• Publication Date: 2013-08-06
• Subjects: ACVRL‐1 -- ENG -- gene mutations -- hereditary haemorrhagic telangiectasia -- pulmonary hypertension; Pathology -- Periodicals; Medical research -- Periodicals; 616.075
• DOI: 10.1111/eci.12138
• Languages: English
• ISSNs: 0014-2972

Abstract

Abstract: Background: Mutations in activin receptor‐like kinase‐1 (ACVRL‐1) or endoglin (ENG) are mostly identified in patients with hereditary haemorrhagic telangiectasia (HHT) associated with pulmonary hypertension (PH), but have not yet been studied in Chinese patients. Material and methods: In this study, we investigated the clinical and molecular genetic features of Chinese patients with HHT‐associated PH and analysed genotype/phenotype correlations in 14 probands and their relatives. Mutation analyses in ACVRL‐1, bone morphogenetic protein receptor type 2 ( BMPR2 ) and ENG were performed in 14 Chinese Han patients with HHT‐associated PH. Results: The overall mutation rate was 71·4%, including 8 ACVRL‐1 mutations and 2 ENG mutations, 6 of which were novel. Six patients were identified with arteriovenous malformations (AVMs), including four patients with pulmonary AVMs and two patients with liver AVMs. Five of the patients with AVMs were identified with mutations. Most patients received targeted therapy for PH. Conclusions: Our findings have revealed the clinical phenotype and molecular genetic features of HHT‐associated PH in Chinese Han patients and indicate that mutations of ACVRL‐1 and ENG are genetic predisposing factors in Chinese patients. Our data further addressed clinical management and have provided limited experience in treating this group of disorders.