Klippel-Trénaunay syndrome with multiple pulmonary emboli--an unusual cause of progressive pulmonary dysfunction

A 32-year-old man with progressive dyspnea and congenital lymphedema was transferred to our hospital for evaluation as a lung transplant candidate with the suspected diagnosis of primary pulmonary hypertension. Evaluation revealed the additional history of previous limb-shortening procedures for the left leg, the presence of syndactyly, long-standing bilateral (left to right) lower extremity varices, as well as soft tissue asymmetry with the left leg and arm larger than the right-sided counterparts. A diagnosis of Klippel-Trénaunay syndrome was made on the basis of these findings. Because of the deep venous malformations known to occur in this syndrome, we sought evidence of recurrent pulmonary emboli as an explanation for the patient's progressive dyspnea, despite negative pulmonary arteriography and ventilation-perfusion scanning results at another institution. Repeat pulmonary arteriography demonstrated evidence of chronic and subacute pulmonary emboli. The patient is presently being treated with warfarin anticoagulation, with plans for placement of a caval filter if anticoagulation alone is insufficient to prevent further embolism. Klippel-Trénaunay syndrome is a rare cause of chronic pulmonary emboli, and this entity should be considered when the characteristic historical and physical findings are present. A case report and review of the syndrome, with particular focus on the aspects relevant to the vascular surgeon, are presented.