• Yan-Jun Chen, Qing-Hui Yang, Dong Liu, Qian-Qian Liu, Mélanie Eyries, Liang Wen, Wen-Hui Wu, Xin Jiang, Ping Yuan, Rui Zhang, Florent Soubrier, and Zhi-Cheng Jing.
• Department of Cardiology, the 4th Affiliated Hospital, Harbin Medical University, Harbin, China.
• Eur. J. Clin. Invest. 2013 Oct 1; 43 (10): 1016-24.

BackgroundMutations 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 MethodsIn 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.ResultsThe 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.ConclusionsOur 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.© 2013 Stichting European Society for Clinical Investigation Journal Foundation. Published by John Wiley & Sons Ltd.

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