Abstract
The concept of congenital contractural arachnodactyly (CCA) as a connective tissue disorder distinct from the Marfan syndrome is extended by the observation of a patient with CCA and congenital heart disease. An infant who had features of CCA including joint contractures, arachnodactyly, and “crumpled” auricles died neonatally of cardiac malformations. Postmortem examination showed an ASD, VSD, bicuspid aortic valve, and an interrupted aortic arch. Family history is remarkable in that the mother has arachnodactyly.
Two further cases of CCA and congenital heart disease in the literature included a VSD in one instance and an ASD in the other. In contrast, the most common cardiac lesions in infants with the Marfan syndrome are mitral and aortic regurgitation. The valvar incompetence appears to result from stretching of connective tissue including dilatation of the mitral ring and elongation of the chordae tendineae. This difference in cardiac involvement seems to reflect a difference in the underlying abnormality of connective tissue in the two disorders. Abnormalities of connective tissue in the Marfan syndrome are diffuse and often progressive, while those in CCA are “spotty” and usually non-progressive. The cardiac involvement in our patient suggests that the clinical spectrum in CCA may be broader than previously assumed.
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Lipson, E., Viseskul, C., Herrmann, J. et al. THE CLINICAL SPECTRUM OF CONGENITAL CONTRACTURAL ARACHNODACTYLY: A CASE WITH CONGENITAL HEART DISEASE. Pediatr Res 8, 441 (1974). https://doi.org/10.1203/00006450-197404000-00605
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DOI: https://doi.org/10.1203/00006450-197404000-00605
