Increased risk for severe peripheral arterial disease in Kabuki syndrome

Kabuki syndrome (KS) is a rare congenital syndrome characterized by abnormal facies, short stature, cognitive impairments, and organ dysfunction. Vascular disease has rarely been observed in patients with KS, and, when reported, cases mostly involve the carotid arteries or the thoracic aorta. Peripheral arterial disease, however, has yet to be evaluated specifically in the KS population. This case report describes a patient with KS who presented with extremely difficult to manage lower extremity peripheral arterial disease, illustrating the challenging vasculopathy associated with this rare genetic syndrome. Endovascular management was a safe management option for this patient; open techniques are still unexplored.