Inherited Disorders of Connective Tissue

Abstract

– Marfan syndrome is an autosomal dominant disease characterized by pleiotropic manifestations involving the cardiovascular,ocular, and skeletal systems. The most common cardiovascular complication in patients with Marfan syndrome is progressiveaortic root enlargement initially occurring at the sinuses of Valsalva. Some patients have dissections of the aorta, mostoften a type I dissection. Mitral valve prolapse is very common in these patients.– The majority of patients with thoracic aortic aneurysms and dissections who have cystic medial necrosis of the aorta do nothave Marfan syndrome.– Ehlers-Danlos syndrome (EDS) is a heterogeneous group of disorders that are classified together on the basis of skin hyperextensibility,cutaneous fragility, joint laxity, dystrophic scarring, and easy bruising. Spontaneous arterial rupture occurs in type IVEDS.– Supravalvular aortic stenosis is an autosomal dominant disorder caused by narrowing of the ascending aorta just distal tothe coronary ostia.– Pseudoxanthoma elasticum is an inherited disease caused by progressive calcification of elastic fibers in the connective tissuethroughout the body.