Jesús E. Aparicio, Centro Cardiovascular Regional Centroccidental, ASCARDIO, Barquisimeto, Lara, Venezuela
Endher Castillo, Unidad de Cuidados Coronarios, Hospital Central Universitario Antonio María Pineda. Barquisimeto, Lara, Venezuela
Fabiana Valbuena, Centro Cardiovascular Regional Centroccidental, ASCARDIO, Barquisimeto, Lara, Venezuela
Ángela Vásquez, Centro Cardiovascular Regional Centroccidental, ASCARDIO, Barquisimeto, Lara, Venezuela
Marfan syndrome is an autosomal dominant collagen disease that involves connective tissue, and it affects cardiovascular system, skeletal muscle and eye. The prevalence is around 1-3 cases per 10,000 inhabitants. The etiology is due to heterozygous mutations in the fibrillin 1 gene (FBN1), a glycoprotein distributed in connective tissue, which forms the network of microfibrils, altering the process of elastogenesis and transforming growth factor-beta signaling. The Ghent criteria and the Z-score are used for diagnostic of aortic pathology, they mix imaging techniques, clinical and family history of the patient. Transthoracic echocardiography may allow surveillance of the aorta’s size. Medical treatment is the first step in the prophylactic management of these patients, based on beta-blockers and angiotensin II receptor antagonists that reduce the progression of dilation of the aorta and the appearance of complications. Prevention of aortic dissection in Marfan syndrome involves early diagnosis, along with medical therapy to decrease the rate of aortic growth, lifestyle modification to reduce aortic risk, aortic imaging surveillance, and prophylactic surgery when diameters have reached established thresholds. Knowledge of this disease allows to identify individuals with the characteristic phenotype, preventing the progression of aortic pathology and improving survival.
Keywords: Marfan syndrome. Aorta. Aneurysm.