Description
A 52-year-old man was referred to an adult cardiovascular genetic clinic for lifelong venous tortuosity of the left leg. His medical history included recurrent deep venous thromboses of the left leg and pulmonary embolism complicated by oxygen-dependent chronic thromboembolic pulmonary hypertension and right-sided heart failure. He was taking warfarin and reported no family history of similar conditions. On examination, crackles were noted at bibasilar lungs. The left leg was slightly longer than the right leg, and giant tortuous veins were observed on the left side (figure 1A). MRI and angiography of the lower extremities revealed diffuse muscular hypertrophy (figure 1B) and bone elongation of the femur, tibia and fibula, as well as multiple capillary-venous malformations and tortuous deep and superficial veins (figure 1C) on the left leg. Chest tomography angiography showed pulmonary artery dilatation and calcified eccentric thrombus in the right pulmonary...
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