New insights into the pathogenesis and treatment of arterial aneurysms and dissections
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Corresponding author Bart L. Loeys, MD, PhD Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium E-mail: [email protected] Current Cardiovascular Risk Reports 2007, 1:401–409 Current Medicine Group LLC ISSN 1932-9520 Copyright © 2007 by Current Medicine Group LLC
Aortic aneurysm and dissection (AAD) is a common cause of morbidity and death in the Western world. Over the last decade tremendous progress has been made in the identification of the genetic basis of aortic aneurysm syndromes. The study of rare monogenic syndromic forms of AAD can provide insights in the pathways underlying the more common nonsyndromic forms of AAD. In this paper, we describe the syndromic and nonsyndromic forms of aortic aneurysm and review the current knowledge of clinical presentation, genetic basis, pathogenesis, management, and new emerging treatment strategies.
Introduction Aortic aneurysm and dissection (AAD) is a common phenotype that is responsible for morbidity and mortality of 1% to 2% of individuals in industrialized countries [1], posing a severe burden on medical health care. Aortic aneurysms occur most frequently in the infrarenal abdominal aorta (abdominal aortic aneurysms [AAAs]), followed by aneurysms of the ascending thoracic aorta (thoracic aortic aneurysms [TAAs]). TAAs are defined as enlargements of the aorta 2 SDs above the mean in function of age and body surface area (z score [2]), whereas AAAs require a 50% increase in size over the normal aortic diameters [3]. They usually remain asymptomatic until rupture or dissection. Like aortic aneurysms, aortic dissections are categorized based on the location and extent of the dissection. More than 95% of aortic thoracic dissections originate in the ascending aorta
within several centimeters of the aortic valve (type A dissections) or in the descending aorta just distal to the origin of the left subclavian artery (type B dissections). Genetic and environmental factors contribute to disease pathogenesis. Abdominal aortic aneurysms and dissections are often associated with identifiable risk factors (eg, male sex, hypertension, and smoking) and generally present in old age, often in the absence of a family history. In contrast, thoracic aortic aneurysms and dissection (TAADs), especially those involving the ascending aorta, often occur in young individuals in the context of a positive family history (20% of all cases) and no other identifiable risk factors, suggesting a strong genetic predisposition [4]. Accurate diagnosis predicts comorbidities, response to surgical intervention, median survival, and the recurrence of risk in family members. The differential diagnosis is extensive and includes syndromic and nonsyndromic presentations. It has been recognized for several years that TAADs occur in conjunction with several genetic syndromes, particularly Marfan syndrome (MFS). A thorough understanding of the molecular basis of syndromic forms of TAAD will lead to effective therapies directed to the underlying cause. Moreover, these studies may help to define t
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