[MIM 608 355]

Rare. Sporadic. Seems associated with mutations of the RASA1 gene. Complex angiodysplasia in a limb, which associates:

1.        a high flow vascular malformation combining

-          extensive capillary malformations  (birthmarks)

-          arteriovenous fistulae resulting in cutaneous ulcerations or even heart failure. There are no venous nor lymphatic malformations (venous ectasias are a consequence of the AV fistulae)

2.        dysmorphism with progressive hypertrophy in length and volume of the limb: hypertrophy of the bones and soft tissue of the affected limb (monomelic gigantism).

There are 4 stages of severity of the arteriovenous malformations:

-        1: stage of quiescence, looks like a benign port wine stain: common presentation for neonates and children

-        2: extension of the involvement, with obvious increased blood flow: generally at puberty

-        3: presence of local complications: skin sores, bleeding, hemarthrosis, bone lysis

-        4: high flow congestive heart failure

To be differentiated from Klippel-Trenaunay-Weber syndrome (association of capillary, lymphatic and low flow venous malformations) which is present at birth (frequent confusion) (see this term)

Anesthetic implications:

• surgical bleeding risk. It may be useful to treat with an antifibrinolytic (tranexamic acid), or antithrombin (low molecular weight heparin) in case of infraclinical disseminated intravascular coagulation (check fibrinogen and D-dimers levels); in the perioperative period: seek the advice of a specialist in hemostasis.
• late risk of high cardiac output heart failure (high flow shunting through the arteriovenous fistulae).
• before making a neuraxial block: exclude (angiography or angio-MRI, for example) the presence of perimedullar vascular malformations.

References : 

• Alomari AI, Orbach DB, Mulliken JB, Bisdorrff A, Fishman SJ, Norbash A, Alokaili R, Lord DJ, Burrows PE. 
  Klippel-Trenaunay syndrome and spinal arteriovenous malformation : an erroneous association.
  AJNR 2010 ; 31 : 1608-12
• Schaal J-V, Benhamou D, Boyer K, Mercier FJ. 
  Syndrome de Parkes-Weber et grossesse: implications anesthésiques. 
  Ann Fr Anesth Réanim 2013; 32: 368-371 
• Elajmi A, Clapuyt P, Hammer F, Bataille A-C, Lengele B, Boon LM.
  Prise en charge des anomalies vasculaires chez l’enfant.
  Ann Chir Plast Esth 2016 ; 61 :480-97.

Updated: July 2022