title: [Pulmonary arterial hypertension associated with human immunodeficiency virus infection: study of 4 cases].
abstract: OBJECTIVE
  Pulmonary arterial hypertension (PAH) is a rare and progressive disease that can be inherited as autosomal dominant form. The BMPR2, ACVRL1 and ENG genes are main genes involved in the pathology. PAH associated to human immunodeficiency virus (HIV) is another rare disease with a low incidence, prevalence and survival. The main objective of this analysis was to study the clinical and molecular characteristics of PAH associated to HIV patients.
  
  
  METHODS
  We present 4 cases of HIV patients who developed PAH and have been treated with ambrisentan.
  
  
  RESULTS
  Pathogenic mutations have been identify in analyzed genes in 3 of the four analyzed patients. In addition, these patients present other changes classified as benign after a thorough in silico analysis. We identified some changes in genetic modifiers that predispose to these patients to more severe phenotype.
  
  
  CONCLUSIONS
  The clinical analysis can help to define monitoring for these patients and the administration of appropriate treatment. These patients also have shown several pathogenic mutations.
authors.affiliation: Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, España; Instituto de Investigación Biomédica de Ourense-Pontevedra-Vigo, Pontevedra, España.
authors.forename: Guillermo
authors.initials: G
authors.lastname: Pousada
authors.affiliation: Servicio de Neumología, Complexo Hospitalario Universitario de Pontevedra, Pontevedra, España.
authors.forename: Adolfo
authors.initials: A
authors.lastname: Baloira
authors.affiliation: Servicio de Neumología y Unidad de Desórdenes del Sueño, Hospital Universitario Lucus Augusti, Lugo, España.
authors.forename: Olalla
authors.initials: O
authors.lastname: Castro-Añón
authors.affiliation: Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, España; Instituto de Investigación Biomédica de Ourense-Pontevedra-Vigo, Pontevedra, España. Electronic address: dianaval@uvigo.es.
authors.forename: Diana
authors.initials: D
authors.lastname: Valverde
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics*; D000328:Adult; D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics*; D000071063:Endoglin / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D015658:HIV Infections / Q000150:complications*; D006801:Humans; D006976:Hypertension, Pulmonary / Q000175:diagnosis / Q000235:genetics* / Q000821:virology*; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: C064206:ENG protein, human; D000071063:Endoglin; D005819:Genetic Markers; C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II; C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II
keywords: Ambrisentan; Análisis mutacional; Hipertensión arterial pulmonar; Human inmunodeficiency virus Ambrisentan; Mutational analysis; Pulmonary arterial hypertension; Virus de la inmunodeficiencia humana