Contemporary diagnosis of venous malformation

BB Lee,¹ I Baumgartner<sup>2

1</sup>Department of Surgery, George Washington University, Washington, DC, USA; ²Swiss Cardiovascular Center, University Hospital Bern, Bern, Switzerland


Abstract: Venous malformation is a congenital vascular malformation resulting from defective development during various stages of embryogenesis and selectively affecting the venous system. Depending on the embryologic stage when the developmental arrest occurred, the clinical presentation of venous malformation is extremely variable in location, extent, severity, natural progression, and hemodynamic impact. Extratruncular lesions occur in the earlier stages of embryonic life, and retain characteristics unique to mesenchymal cells (angioblasts), growing and proliferating when stimulated internally (eg, by menarche, pregnancy, and hormones) or externally (eg, by trauma or surgery). These lesions also have a significant hemodynamic impact on the venous system involved, in addition to the risk of localized intravascular coagulopathy. However, truncal lesions, as defective developments along the late stage, no longer carry the risk of proliferation and recurrence due to lack of mesenchymal characteristics. Although, they often have serious hemodynamic consequences due to direct involvement of the main vein trunk. Therefore, a thorough clinical history and careful physical examination should be followed by an appropriate combination of noninvasive and less invasive tests (eg, Doppler ultrasonography, magnetic resonance imaging, computed tomography) to confirm the clinical impression as well as to define the extent and severity of the venous malformation. Invasive tests, eg, phlebography or angiography, are seldom needed for the diagnosis per se. Additional evaluation for coagulation abnormalities, eg, D-dimer and fibrinogen levels, is generally recommended, especially for the treatment of surgery and endovascular candidates with extensive lesions to assess the localized intravascular coagulopathy status. Localized intravascular coagulopathy may cause serious thrombohemorrhagic events, including deep venous thrombosis and pulmonary embolism.

Keywords: venous malformation, extratruncular lesions, truncal lesions, noninvasive tests, less invasive tests, localized intravascular coagulopathy