Cardiovascular pathology in Marfan syndrome — An overview
The clinical presentation of arachnodactyly, better known as Marfan syndrome, has been recognized for almost 100 years, but it is only relatively recent that McKusick (4) described the clinical presentation in detail and, moreover, identified the syndrome as an inherited connective tissue disease. Despite the heterogeneity in the phenotypic expression of the disease, Marfan syndrome was subsequently characterized as an autosomal dominant connective tissue disorder (5). Marfan syndrome occurs with an estimated preference of 1 : 10 000; the majority being familial, but approximately 15–30% of the patients are sporadic (5). The phenotypic features of Marfan syndrome vary, but include skeletal, ocular and cardiovascular manifestations. The skeletal symptoms of Marfan syndrome include increased height, disproportionally long limbs and digits and anterior chest deformities. The typical ocular findings include myopia and subluxation of the lenses. The most serious and often life-threatening manifestations of Marfan syndrome occur in the cardiovascular system. Aortic root dilation and aneurysm formation of the ascending aorta are the most prominent and aortic wall rupture, with or without aortic dissection, is a common cause of death.
KeywordsPolypeptide Fibril Endocarditis Glycosaminoglycan Myopia
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