Marfan Syndrome and Marfan-like Disorders

Abstract

Aortic aneurysms are challenging surgical entities of the utmost importance to cardiovascular surgeons; when coupled with a connective tissue disorder, the complexities are multifold. The prevalence of these diseases is low, but Marfan, Ehlers- Danlos, and Loeys-Dietz syndromes are ubiquitous, affect both genders, and occur in all ethnic groups and geographical locations. Because of this, knowledge of the genetic and clinical manifestations of each syndrome is indispensible to the physician. A comprehensive overview incorporating the biomolecular and physical anomalies described in the literature is essential to providing optimal care for patients with these diseases.

Keywords: Acute type A dissection, Aneurysm, Aortic dissection, Ehlers-Danlos syndrome, Elastic fiber, Elastin, Epidermal growth factor, Etiology, Extracellular matrix, Familial thoracic aortic aneurysm and dissection, Fibrillin-1 gene, Gene, Loeys-Dietz syndrome, Marfan syndrome, Microfibrils, Mutation, Profibrillin, Transforming growth factor beta, Transforming growth factor beta receptor 1, Transforming growth factor beta receptor 2, Type III procollagen gene.