Cardiovascular manifestations in the Larsen syndrome.
The Larsen syndrome consists of a skeletal dysplasia with multiple joint dislocations and a characteristic facies. The basis of the abnormalities is felt to be a generalized mesenchymal disorder involving connective tissues. More than 80 cases have been reported in the literature with isolated reports of congenital cardiac septal defects and acquired abnormalities of the aorta and mitral valve. A case with marked aortic dilation and insufficiency as well as an aneurysm of the ductus arteriosus is presented. The aortic lesions are similar to those described in other connective tissue disorders, particularly the Marfan syndrome. Previous reports of ductal aneurysms have not revealed an association with connective tissue disorders, but have described a significant morbidity. In summary, patients with the Larsen syndrome are likely to have cardiac lesions similar to those classically associated with the Marfan syndrome; these patients deserve a careful investigation for cardiac anomalies. These aortic lesions may be as prognostically significant as cardiac lesions in the Marfan syndrome.
D001022:Aortic Valve Insufficiency / Q000175:diagnosis; D002675:Child, Preschool; D003240:Connective Tissue Diseases / Q000175:diagnosis*; D004374:Ductus Arteriosus, Patent / Q000175:diagnosis*; D005149:Facial Expression; D005260:Female; D006322:Heart Aneurysm / Q000175:diagnosis*; D006801:Humans; D007592:Joint Diseases / Q000175:diagnosis*; D004204:Joint Dislocations / Q000175:diagnosis*; D011379:Prognosis; D013577:Syndrome