title: Role of transthoracic contrast echocardiography in the clinical diagnosis of hereditary hemorrhagic telangiectasia.
abstract: BACKGROUND
  Hereditary hemorrhagic telangiectasia (HHT) can be diagnosed according to the four clinical Curaçao criteria, including the presence of pulmonary arteriovenous malformations (PAVMs). In the past few years, transthoracic contrast echocardiography (TTCE) replaced chest high-resolution CT (HRCT) imaging for the screening of PAVMs. The objective of this study was to determine whether the presence of any pulmonary shunt on TTCE can be accepted as a new clinical Curaçao criterion in diagnosing HHT.
  
  
  METHODS
  Between 2004 and 2012, we included 487 first-degree relatives of known HHT-causing mutation carriers who underwent both TTCE and chest HRCT imaging to screen for PAVMs. A quantitative three-point grading scale was used to differentiate among minimal, moderate, or extensive pulmonary shunt on TTCE (grade 1-3). Genetic testing was performed in all people and considered the gold standard for the diagnosis of HHT.
  
  
  RESULTS
  Chest HRCT imaging demonstrated PAVMs in 114 of 218 patients (52.3%) with a pulmonary shunt on TTCE. The addition of any pulmonary shunt on TTCE to the current clinical Curaçao criteria increased the number of positive criteria in 92 of 487 individuals (18.9%), which increased the sensitivity in diagnosing HHT from 88% to 94% at the expense of a decreased specificity from 74% to 70%. Accepting only pulmonary shunt grades ≥ 2 on TTCE as a diagnostic criterion for HHT enhanced the number of positive criteria in 30 (6.2%) individuals, which led to an increased sensitivity of 90% with no decrease in specificity (74%).
  
  
  CONCLUSIONS
  The addition of only pulmonary shunt grades ≥ 2 on TTCE to the current clinical Curaçao criteria increases its sensitivity without affecting specificity in the diagnosis of HHT.
authors.affiliation: Department of Cardiology, St. Antonius Hospital, Nieuwegein, The Netherlands. Electronic address: S.Velthuis@antoniusziekenhuis.nl.
authors.forename: Sebastiaan
authors.initials: S
authors.lastname: Velthuis
authors.affiliation: Department of Cardiology, St. Antonius Hospital, Nieuwegein, The Netherlands.
authors.forename: Veronique M M
authors.initials: VMM
authors.lastname: Vorselaars
authors.affiliation: Department of Cardiology, St. Antonius Hospital, Nieuwegein, The Netherlands.
authors.forename: Marco W F
authors.initials: MWF
authors.lastname: van Gent
authors.affiliation: Department of Pulmonology, St. Antonius Hospital, Nieuwegein, The Netherlands.
authors.forename: Cornelis J J
authors.initials: CJJ
authors.lastname: Westermann
authors.affiliation: Department of Pulmonology, St. Antonius Hospital, Nieuwegein, The Netherlands.
authors.forename: Repke J
authors.initials: RJ
authors.lastname: Snijder
authors.affiliation: Department of Pulmonology, St. Antonius Hospital, Nieuwegein, The Netherlands.
authors.forename: Johannes J
authors.initials: JJ
authors.lastname: Mager
authors.affiliation: Department of Cardiology, St. Antonius Hospital, Nieuwegein, The Netherlands.
authors.forename: Martijn C
authors.initials: MC
authors.lastname: Post
mesh_terms: D000328:Adult; D003952:Diagnostic Imaging / Q000379:methods / Q000592:standards; D004452:Echocardiography / Q000379:methods*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011446:Prospective Studies; D015203:Reproducibility of Results; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000000981:diagnostic imaging*; D014057:Tomography, X-Ray Computed / Q000379:methods*