Clinical Characterization of Pediatric Pulmonary Hypertension: Complex Presentation and Diagnosis

van Loon, Rosa Laura E.; Roofthooft, Marcus T.R.; van Osch-Gevers, Magdalena; Delhaas, Tammo; Strengers, Jan L.M.; Blom, Nico A.; Backx, Ad; Berger, Rolf M.F.

doi:10.1016/j.jpeds.2009.02.036

« Previous Next »The Journal of Pediatrics
Volume 155, Issue 2 , Pages 176-182.e1, August 2009

Clinical Characterization of Pediatric Pulmonary Hypertension: Complex Presentation and Diagnosis

Rosa Laura E. van Loon, MD
- Department of Pediatric Cardiology, University Medical Center, University of Groningen, Groningen, The Netherlands
Marcus T.R. Roofthooft, MD
- Department of Pediatric Cardiology, University Medical Center, University of Groningen, Groningen, The Netherlands
Magdalena van Osch-Gevers, MD, PhD
- Erasmus Medical Center, Rotterdam, The Netherlands
Tammo Delhaas, MD, PhD
- University Hospital, Maastricht, The Netherlands
Jan L.M. Strengers, MD, PhD
- University Medical Center, Utrecht, The Netherlands
Nico A. Blom, MD, PhD
- Center for Congenital Anomalies of the Heart, Amsterdam/Leiden, The Netherlands
Ad Backx, MD
- University Medical Center, Nijmegen, The Netherlands
Rolf M.F. Berger, MD, PhD
- Department of Pediatric Cardiology, University Medical Center, University of Groningen, Groningen, The Netherlands
- Reprint requests: Rolf M.F. Berger, MD, PhD, Department of Pediatric Cardiology, Beatrix Children's Hospital, University Medical Center Groningen, PO Box 30 001, 9700 RB Groningen, The Netherlands.

Received 19 November 2008; received in revised form 14 January 2009; accepted 13 February 2009. published online 15 June 2009.

Objectives

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.

Study design

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%), ≥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%).

Conclusion

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.

ASD, Atrial septal defect, BMPR2, Bone morphogenetic protein receptor type 2, CHD, Congenital heart disease, CTD, Connective tissue disease, CTE, Chronic thromboembolic disease, PAH, Pulmonary arterial hypertension, PDA, Patent ductus arteriosus, PH, Pulmonary hypertension, RSH, Disorders of respiratory system and/or hypoxemia, TcSO2, Transcutaneous oxygen saturation, VSD, Ventricular septal defect