JOURNAL ARTICLE

LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease

Marineh Yagubyan, Jean M Panneton, Noralane M Lindor, Emanuela Conti, Anna Sarkozy, Antonio Pizzuti
Journal of Vascular Surgery 2004, 39 (4): 897-900
15071461
LEOPARD syndrome, one of many cardiocutaneous syndromes, is an acronym for some of the obvious manifestations of the disease, such as lentigines or ocular hypertelorism. The synonymous name progressive cardiomyopathic lentiginosis better indicates the morbid cardiac features that patients with the syndrome have. A patient with LEOPARD syndrome is presented. He had recurrent upper extremity aneurysms requiring multiple operations and finally PTFE reinforced venous grafts to prevent further aneurysmal degeneration. He has multiple other peripheral aneurysms, thus far asymptomatic. His diagnosis of LEOPARD syndrome was confirmed on a genetic basis. Review of the literature reveals no previous reports of severe aneurysmal disease in these patients.

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