THE CARDIOVASCULAR SYSTEM IN GARGOYLISM

Abstract

Gargoylism is a heredofamilial condition characterized by mental deficiency, defective vision, large head, prominent abdomen, and short extremities. Deposition of a glycoprotein occurs in parenchymal cells and connective tissues. Clinical evidence of the disease becomes apparent when the stored material alters the structure or interferes with growth of the skeletal or other tissues. In the review of 25 recorded autopsies (including 1 by the author) there were 17 with gross or microscopic evidence of cardiovascular disease. The avg. age of gargoyles dying of cardiac failure was 11 yrs. The heart and vascular system showed swelling and vacuolization of the connective tissue cytoplasm. Collagenous fibres in the affected tissues were swollen and often amorphous. The most pronounced lesions were in the cardiac valves and in the coronary arteries (marked intimal thickening). Gargoylism should be considered in the diagnosis of cardiovascular disease in infants and children.