A newborn boy with congenital contractural arachnodactyly (CCA) was found to have an atrial septal defect, ventricular septal defect, patent ductus arteriosus, and aortic arch anomalies. These resulted in congestive failure but subsequent progressive dilatation of both great arteries and development of aortic regurgitation were associated with eventual cardiorespiratory failure and death at 11.5 months. Others have noted that cardiac anomalies in CCA may be comparable with those of infantile Marfan's syndrome. Our case further extends the spectrum of cardiac abnormalities in CCA and substantiates that there is overlap with infantile Marfan's syndrome. This fact and our literature review suggest that early and complete cardiac assessment is necessary for appropriate management and evaluation of prognosis in any newborn infant with findings suggestive of either condition.
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