title: Chronic pulmonary embolism in Klippel-Trenaunay syndrome.
abstract: BACKGROUND
  Klippel-Trenaunay syndrome (KTS) is characterized by vascular malformations and disturbed soft tissue or bony growth, involving one or more extremities. A high incidence of venous thromboembolism (VTE) has been reported in this disorder, along with cases of belated diagnosed chronic thromboembolic (CTE) pulmonary hypertension (CTEPH). We performed a cross-sectional study to investigate the prevalence of CTE in patients with KTS.
  
  
  METHODS
  Those from our KTS patient cohort willing to participate were examined with a sequential diagnostic workup including perfusion scintigraphy, computed tomography, and echocardiography.
  
  
  RESULTS
  Of 68 patients, 48 patients participated in the study (median age 43 years; 29 [60%] were female). Eleven patients (23%) had an abnormal perfusion scan result, of whom computed tomographic scanning showed signs of CTE in two patients (4.2%; 95% confidence interval [CI] 1.2%-14%); both patients had a history of VTE. Echocardiography showed no signs of CTEPH in these patients. In total, 23 patients (48%; 95% CI 35%-62%) had a history of superficial vein thrombosis and 8 patients (17%; 95% CI 8.7%-30%) had a history of deep vein thrombosis or pulmonary embolism, which was associated with more shortness of breath.
  
  
  CONCLUSIONS
  Echocardiography was only performed in patients with CTE.
  
  
  CONCLUSIONS
  A large proportion of patients with KTS had a history of VTE. The prevalence of CTE in the total KTS cohort, however, appeared less alarming than previously assumed. Based on these results, we suggest that there is only a limited indication for CTEPH screening among patients with KTS. Nevertheless, awareness for CTEPH remains appropriate, especially among patients presenting with shortness of breath and a history of VTE.
authors.affiliation: Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands. r.a.douma@amc.uva.nl
authors.forename: Renée A
authors.initials: RA
authors.lastname: Douma
authors.forename: Charlène E U
authors.initials: CE
authors.lastname: Oduber
authors.forename: Victor E A
authors.initials: VE
authors.lastname: Gerdes
authors.forename: Otto M
authors.initials: OM
authors.lastname: van Delden
authors.forename: Berthe L F
authors.initials: BL
authors.lastname: van Eck-Smit
authors.forename: Joost C M
authors.initials: JC
authors.lastname: Meijers
authors.forename: Eduard J
authors.initials: EJ
authors.lastname: van Beers
authors.forename: Berto J
authors.initials: BJ
authors.lastname: Bouma
authors.forename: Chantal M A M
authors.initials: CM
authors.lastname: van der Horst
authors.forename: Paul
authors.initials: P
authors.lastname: Bresser
mesh_terms: D000328:Adult; D000368:Aged; D002908:Chronic Disease; D004452:Echocardiography; D005260:Female; D006801:Humans; D006976:Hypertension, Pulmonary / Q000150:complications; D007715:Klippel-Trenaunay-Weber Syndrome / Q000150:complications*; D008297:Male; D008875:Middle Aged; D011655:Pulmonary Embolism / Q000150:complications* / Q000175:diagnosis; D014057:Tomography, X-Ray Computed; D020246:Venous Thrombosis / Q000150:complications