Marfan's syndrome: diagnostic criteria and personal observations
Martelli, M.; Saponaro, A.; Martinez, R.; Barbato, G.; Galati, A.
Panminerva Medica 25(1): 47-52
1983
ISSN/ISBN: 0031-0808 PMID: 6866548 Document Number: 199702
Clinical and instrumental data relating to 12 suspected Marfan's syndrome carriers was gathered. The evidence of the syndrome's familial incidence is stressed. All subjects showed changes in the osseous-ligamentous apparatus as well as ocular changes and changes in the cardiovascular system. These latter were represented by a high occurrence of mitralic valve prolapse, by cold areas of poor visualization during heart-scintigraphy, by the increase of the telediastolic index during the polygraphic examination which shows an inverse correlation to the echocardiographically determined telediastolic volume. Also the frequency of the spontaneous pneumothorax is underlined which proves the extension of congenital, connective tissue lability to the respiratory system.