Tratamiento médico de la enfermedad aórtica en el síndrome de Marfán

Abstract

Marfan Syndrome is an autosomal dominant disease that predominantly affects the cardiovascular system, however, it also affects other systems, such as the skeletal muscle, the pulmonary system, and vision. Marfan Syndrome is caused by a mutation in the FBN-1 gene that encodes the fibrillin 1 protein, which generates a dysfunction in the contractility of the muscle cell and a decrease in the tensile strength of the aortic tissue, affecting the normal function and integrity of the walls of the blood vessels. It is for this reason that aortic disease is the most frequent and fatal complication in patients with Marfan Syndrome, mainly caused by the aneurysm and dissection of the aorta, which usually occurs in the ascending zone of the same. Other cardiovascular complications include valvular heart disease, such as the bicuspid aortic valve (the most common congenital heart defect), high blood pressure (which occurs mostly in adulthood), and in cases of rapidly progressive Marfan Syndrome, heart failure in boys and girls. Arterial hypertension is the main risk factor for presenting an aortic event in a person with this pathology, since the dilation of the aortic root is progressive, the use of antihypertensive drugs has been of great importance in patients with Marfan Syndrome, mainly beta blockers and angiotensin II receptor antagonists. The objective of the use of these drugs is to reduce the risk of progression of aortic root dilation, avoiding the formation of aneurysms and dissection of the aorta, by lowering systemic blood pressure and by controlling cardiac inotropism.