Interdisciplinary care of people with Marfan's syndrome-genetics, imaging and cardiovascular system

Marfan's syndrome is one of the most common hereditary diseases of connective tissue with a prevalence of 1-2:10000. Marfan's syndrome is caused by mutations in the gene encoding for the extracellular matrix protein fibrillin-1. It is inherited in an autosomal dominant fashion and is a multisystem disease with involvement of the aorta and mitral valves as well as ocular and skeletal manifestations. The primary objectives in the care of patients with Marfan's syndrome are the correct diagnosis and therefore the prevention of an acute aortic dissection. The primary diagnostic method of choice is transthoracic echocardiography. For the more detailed visualization of the aorta an imaging investigation with magnetic resonance imaging (MRI) or computed tomography (CT) should be performed during the course. In this first of two parts the genetic basis, differential diagnosis, imaging, follow-up, the cardiovascular problems and manifestations on the aorta and the great vessels in patients with Marfan's syndrome are explained in detail. Providing a structured long-term follow-up is crucial in this patient population.