The marfan's syndrome. In vitro study of collagen metabolism in tissue specimens of the aorta.

Abstract

Tissue specimen of the aorta was obtained from a patient with Marfan's syndrome after heart surgery. Media and adventitia were carefully separated and subsequently used for biochemical characterization. Aortas from an embryonic calf and from a human adult were used as internal controls. The data clearly indicated that an insufficient synthesis of type I collagen rather than a defect in the formation of cross-links may be the prime cause in this inherited connective tissue disorder. Such a disturbance in the regulation of the genes coding for the different collagen chains may explain the weakness and enhanced extensibility of the blood vessels finally resulting in an aneurysm.