title: Clinical characterization of pediatric pulmonary hypertension: complex presentation and diagnosis.
abstract: OBJECTIVE
  To describe the clinical presentation of pediatric pulmonary arterial hypertension (PAH) and the intricacies of how to classify pediatric PAH according to the Venice classification.
  
  
  METHODS
  Children (n = 63) seen at a national referral center for pediatric PAH underwent a diagnostic work-up for diagnosis of pulmonary hypertension (PH) and associated conditions and for assessment of the explanatory role of associated conditions for the PH. Subsequently, PH was classified.
  
  
  RESULTS
  In 18 patients (29%), no associated conditions were identified; they were classified as having idiopathic PAH. In 45 patients (71%), > or = 1 associated conditions were detected: congenital heart defects (CHD, n = 40), connective tissue disease (CTD, n = 2), disorders of respiratory system and/or hypoxemia (RSH, n = 17), and chronic thromboembolic disease (CTE, n = 1). Patients were classified according to the condition judged to be primarily explanatory for the PH. In 11 of 45 patients with associated conditions, the PH was not sufficiently explained by these conditions; these patients were classified as having idiopathic-like PAH. In 17 of 40 cases of CHD and 9 of 17 cases of RSH, these conditions were not sufficiently explanatory for the PH. Syndromal abnormalities were frequent (43%). Ultimately, classification revealed idiopathic (-like) PAH (n = 29; 46%), PAH-CHD (n = 23; 37%), PAH-CTD (n = 2; 3%), PH-RSH (n = 8; 12%), and CTE-PH (n = 1; 2%).
  
  
  CONCLUSIONS
  Pediatric PH frequently presents with associated conditions and syndromal abnormalities. However, detailed evaluation of this complex presentation reveals that associated conditions are not always explanatory for the PH.
authors.affiliation: Department of Pediatric Cardiology, University Medical Center, University of Groningen, Groningen, The Netherlands.
authors.forename: Rosa Laura E
authors.initials: RL
authors.lastname: van Loon
authors.forename: Marcus T R
authors.initials: MT
authors.lastname: Roofthooft
authors.forename: Magdalena
authors.initials: M
authors.lastname: van Osch-Gevers
authors.forename: Tammo
authors.initials: T
authors.lastname: Delhaas
authors.forename: Jan L M
authors.initials: JL
authors.lastname: Strengers
authors.forename: Nico A
authors.initials: NA
authors.lastname: Blom
authors.forename: Ad
authors.initials: A
authors.lastname: Backx
authors.forename: Rolf M F
authors.initials: RM
authors.lastname: Berger
mesh_terms: D000402:Airway Obstruction / Q000150:complications; D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics; D002637:Chest Pain / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D003240:Connective Tissue Diseases / Q000150:complications; D004417:Dyspnea / Q000209:etiology; D015444:Exercise; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D006976:Hypertension, Pulmonary / Q000145:classification / Q000150:complications* / Q000175:diagnosis*; D000860:Hypoxia / Q000150:complications; D017563:Lung Diseases, Interstitial / Q000150:complications; D008297:Male; D009154:Mutation; D020181:Sleep Apnea, Obstructive / Q000150:complications; D013575:Syncope / Q000209:etiology; D013923:Thromboembolism / Q000150:complications; D014655:Vascular Resistance
chemical_list: C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II