title: Heart failure and pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia type 2.
abstract: 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.
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Chongqing Medical University, 1 Youyi Road, Yuzhong District, Chongqing, 400016, China.
authors.forename: Juan
authors.initials: J
authors.lastname: Du
authors.affiliation: Department of Hematology, Southwest Hospital, Third Military Medical University, Chongqing, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhu
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Chongqing Medical University, 1 Youyi Road, Yuzhong District, Chongqing, 400016, China.
authors.forename: Yu-Lin
authors.initials: YL
authors.lastname: Zhang
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Chongqing Medical University, 1 Youyi Road, Yuzhong District, Chongqing, 400016, China.
authors.forename: Sha
authors.initials: S
authors.lastname: Li
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Chongqing Medical University, 1 Youyi Road, Yuzhong District, Chongqing, 400016, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Huang
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Chongqing Medical University, 1 Youyi Road, Yuzhong District, Chongqing, 400016, China. xiaohua.luo@gmail.com.
authors.forename: Xiao-Hua
authors.initials: XH
authors.lastname: Luo
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Chongqing Medical University, 1 Youyi Road, Yuzhong District, Chongqing, 400016, China. liul7776@aliyun.com.
authors.forename: Lin
authors.initials: L
authors.lastname: Liu
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics*; D001165:Arteriovenous Malformations / Q000209:etiology / Q000473:pathology; D005260:Female; D006333:Heart Failure / Q000209:etiology / Q000473:pathology; D006801:Humans; D008168:Lung / Q000098:blood supply / Q000473:pathology; D008875:Middle Aged; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000235:genetics / Q000473:pathology
chemical_list: C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II
keywords: ACVRL1 gene; Epistaxis; Hereditary hemorrhagic telangiectasia; Pulmonary arteriovenous malformations