Therapeutic management of patients with Marfan syndrome: focus on cardiovascular involvement.

Abstract

Marfan syndrome is an autosomal dominant disorder of the connective tissues, with mutation on the fibrillin-1 gene encoding for fibrillin, a major component of the extracellular microfibrils. The prevalence of the syndrome is 7 to 17 in 100,000. The mean life expectancy for untreated patients with Marfan syndrome is 32 years, with aortic dissection, aortic rupture, or cardiac failure from mitral or aortic valve regurgitation as the predominant cause of death in >90% of patients. However, with optimal clinical management of patients with Marfan syndrome, life expectancy may be improved substantially to a nearly normal life span. Cornerstones of clinical management include modern noninvasive imaging modalities, molecular analysis at the complementary deoxyribonucleic acid/deoxyribonucleic acid level of the fibrillin-1 gene, genetic counseling, lifestyle changes, and cardiovascular surveillance, the latter including regular imaging of the aorta and endocarditis prophylaxis. Prophylactic use of beta-blocking agents, the timing of elective surgery, and the optimal surgical technique are difficult issues that need to be evaluated individually. Juvenile, postoperative, and pregnant patients with Marfan syndrome pose particular problems. The goal of this review is to facilitate differential decision-making based on referenced evidence and to provide guidelines for medical and surgical therapeutic strategies.