title: Pulmonary arterial hypertension and portal hypertension in a patient with hereditary hemorrhagic telangiectasia.
abstract: OBJECTIVE
  Pulmonary arterial hypertension (PAH) is a rare disease that could be inherited with an autosomal dominant pattern. Mutations in BMPR2 gene are described in over 70% of cases, although other genes are involved in lesser extend in PAH. Hereditary hemorrhagic telangiectasia (HHT) is another rare autosomal dominant disease. PAH is a rare complication of HHT that occurs in less than 1% of cases. Liver cirrhosis with portal hypertension is also associated with the presence of PAHs in 1-2% of cases.
  
  
  METHODS
  We present here a patient with HHT who developed PAH shortly after showing portal hypertension.
  
  
  RESULTS
  Some genes (BMPR2, ACVRL1, ENG) seem to play an important role in PAH pathogenesis. We analyzed these genes, detecting mutations in BMPR2 gene (c.1021G>A (V341L), c.327G>A (p.Q109Q)), ACVRL1 (c.313+20C>A, c.1502+7A>G) and ENG (c.498G>A (Q166Q)). The patient also had 3 polymorphisms in the TRPC6 gene (c.1-361A>T, c.1-254C>G, c.1-218C>T).
  
  
  CONCLUSIONS
  The study of these genes will help us to identify and track individuals susceptible for developing PAH associated with other diseases.
authors.affiliation: Department of Biochemistry, Genetics and Immunology, Faculty of Biology, University of Vigo, Vigo, Spain; Biomedical Research Institute of Vigo (IBIV), Vigo, Spain.
authors.forename: Guillermo
authors.initials: G
authors.lastname: Pousada
authors.affiliation: Respiratory Division, Complejo Hospitalario Universitario de Pontevedra, Pontevedra, Spain.
authors.forename: Adolfo
authors.initials: A
authors.lastname: Baloira
authors.affiliation: Department of Biochemistry, Genetics and Immunology, Faculty of Biology, University of Vigo, Vigo, Spain; Biomedical Research Institute of Vigo (IBIV), Vigo, Spain. Electronic address: dianaval@uvigo.es.
authors.forename: Diana
authors.initials: D
authors.lastname: Valverde
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics; D015703:Antigens, CD / Q000235:genetics; D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics; D000071063:Endoglin; D017809:Fatal Outcome; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D006975:Hypertension, Portal / Q000175:diagnosis / Q000209:etiology*; D006976:Hypertension, Pulmonary / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011956:Receptors, Cell Surface / Q000235:genetics; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications* / Q000175:diagnosis / Q000235:genetics
chemical_list: D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D005819:Genetic Markers; D011956:Receptors, Cell Surface; C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II; C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II
keywords: Hereditary hemorrhagic telangiectasia; Hipertensión arterial pulmonar; Hipertensión portal; Mutaciones; Mutations; Portal hypertension; Pulmonary arterial hypertension; Telangiectasia hemorrágica hereditaria