Heart failure and pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia type 2

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• 作者：Juan Du ; Yan Zhu ; Yu-Lin Zhang ; Sha Li…
• 关键词：Hereditary hemorrhagic telangiectasia ; ACVRL1 gene ; Epistaxis ; Pulmonary arteriovenous malformations
• 刊名：Journal of Thrombosis and Thrombolysis
• 出版年：2015
• 出版时间：November 2015
• 年：2015
• 卷：40
• 期：4
• 页码：515-519
• 全文大小：1,177 KB
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• 作者单位：Juan Du (1)
  Yan Zhu (2)
  Yu-Lin Zhang (1)
  Sha Li (1)
  Jing Huang (1)
  Xiao-Hua Luo (1)
  Lin Liu (1)
  
  1. Department of Hematology, The First Affiliated Hospital of Chongqing Medical University, 1 Youyi Road, Yuzhong District, Chongqing, 400016, China
  2. Department of Hematology, Southwest Hospital, Third Military Medical University, Chongqing, China
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Cardiology
  Hematology
  
• 出版者：Springer Netherlands
• ISSN：1573-742X

文摘

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominantly inherited vascular-malformation syndrome associated with gene mutations including ENG, ACVRL1 and SMAD4 gene. Clinically indistinguishable HHT1 and HHT2 are caused by mutations in ENG and ACVRL1 gene, respectively. Generally, pulmonary arteriovenous malformations (PAVMs) and pulmonary arterial hypertension (PAH) are rare manifestations of HHT related to ACVRL1 gene mutations. We described a female patient with HHT2 whose clinical features included epistaxis, mucocutaneous telangiectases, systemic AVMs and PAH. She also suffered from severe iron deficiency anemia and recurrent heart failure. A genetic mutation analysis disclosed a missense mutation in exon 7 of ACVRL1 gene in this patient and her daughter. A nonsense mutation in exon 7 of ACVRL1 gene was detected in her brother and her niece. This case supports that PAVMs and PAH can be rare manifestations of HHT2 patients. Keywords Hereditary hemorrhagic telangiectasia ACVRL1 gene Epistaxis Pulmonary arteriovenous malformations