Chapter 140 - Aneurysms Caused by Connective Tissue Abnormalities

Abstract

A connective tissue disorder is a genetic disease in which the primary target is either collagen or elastin protein assembly, disruption of which leads to an inherent predisposition to degeneration, loss of structural integrity, and consequent aneurysm formation or spontaneous vascular dissection and rupture. These “heritable disorders of connective tissue” can have severe vascular manifestations and most commonly include Marfan syndrome, the vascular type of Ehlers-Danlos syndrome (EDS IV or VEDS), Loeys-Dietz syndrome (LDS), and familial thoracic aortic aneurysm and dissection (TAAD).