Cardiovascular findings in congenital contractural arachnodactyly: report of an affected kindred

R A Anderson, S Koch, R D Camerini-Otero
American Journal of Medical Genetics 1984, 18 (2): 265-71
Three generations of a kindred had a history and physical findings consistent with congenital contractural arachnodactyly (CCA) segregating in an autosomal-dominant manner. Six of the seven affected patients we examined had mitral valve prolapse (MVP) diagnosed clinically or by echocardiography. The family members without CCA did not have MVP. This association of cardiac involvement with CCA further lessens the distinction between CCA and the Marfan syndrome. The indication for ophthamologic and echocardiographic follow-up of patients carrying the diagnosis of CCA is stressed.

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