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Related Experiment Video

Updated: Jan 1, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Klippel-Trenaunay Syndrome.

Philip R John1

  • 1Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Canada.

Techniques in Vascular and Interventional Radiology
|December 23, 2019
PubMed
Summary

Klippel-Trenaunay syndrome (KTS) is a vascular disorder linked to PIK3CA gene mutations, causing overgrowth and malformations. Interventional radiology offers minimally invasive treatments to reduce life-threatening risks like VTEs.

Area of Science:

  • Genetics
  • Vascular Biology
  • Medical Diagnostics

Background:

  • Klippel-Trenaunay syndrome (KTS) is a rare vascular anomaly characterized by port-wine stains, lymphatic and venous malformations, and limb overgrowth.
  • Somatic mutations in the PIK3CA gene are identified as a key cause of KTS, influencing disease presentation and severity.
  • Patient management requires a multidisciplinary team due to variable clinical manifestations and potential complications.

Purpose of the Study:

  • To highlight the role of interventional radiology in managing KTS.
  • To emphasize the importance of identifying and mitigating risks of veno-thromboembolic events (VTEs) in KTS patients.
  • To discuss minimally invasive endovascular procedures for venous anomalies in KTS.

Main Methods:

  • Diagnosis based on physical findings and imaging.
Keywords:
Klippel-Trenaunay Syndromeembryonic vein

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  • Identification of somatic PIK3CA gene mutations.
  • Interventional radiology procedures, including endovascular closure of venous anomalies.
  • Prophylactic measures against VTEs.

    • Main Results:

    • KTS exhibits variable severity in vascular malformations and overgrowth.
    • VTEs pose a significant life-threatening risk, particularly post-procedure.
    • Endovascular techniques provide a minimally invasive approach to reduce VTE risk.

    Conclusions:

    • Early recognition and management of KTS are crucial.
    • Interventional radiology plays a vital role in preventing severe complications like VTEs.
    • Long-term outcome data for endovascular interventions in KTS are needed.