This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Payvandi, M. N. Articles by Schrott, H. G. Search for Related Content PubMed PubMed Citation Articles by Payvandi, M. N. Articles by Schrott, H. G.

Circulation, Vol 55, 797-802, Copyright © 1977 by American Heart Association

ARTICLES

Cardiac, skeletal and ophthalmologic abnormalities in relatives of patients with the Marfan syndrome

MN Payvandi, RE Kerber, CD Phelps, GF Judisch, G El-Khoury and HG Schrott

Nine patients with the Marfan syndrome and 40 of their first degree relatives were evaluated for the presence of cardiac, skeletal and ophthalmologic abnormalities. Aortic root dilatation and mitral valve prolapse were sought by echocardiography, and the metacarpal index was calculated from hand X-rays. Abnormalities of all the tests performed were present in all nine index cases, except for one normal eye exam. Mitral prolapse was present in thirteen relatives (33%) and aortic root dilatation in seven (18%). At least one cardiac abnormality was present in nineteen (47%) relatives. Aortic root dilatation was more common in male relatives; the incidence of mitral prolapse was approximately equal in the two sexes. Abnormal metacarpal index (greater than 8.0) occurred in fifteen of twenty-six relatives examined (58%). Ophthalmologic abnormalities were found in only four relatives. Two relatives had abnormalities of all three organ systems evaluated, five others had abnormalities of two systems, and fourteen had abnormalities of one system. We conclude that cardiac and skeletal abnormalities are demonstrable in a high percentage of first degree relatives of patients with the Marfan syndrome.

This article has been cited by other articles:

				G. Kouvaras, J. Goudevenos, and P. Adams Marfan's Syndrome and Coarctation. Coincidence or Association? A Case Report Angiology, May 1, 1990; 41(5): 412 - 416. [Abstract] [PDF]