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Table 6 Summary of the genetic aortopathies

From: Society for Cardiovascular Magnetic Resonance/European Society of Cardiovascular Imaging/American Society of Echocardiography/Society for Pediatric Radiology/North American Society for Cardiovascular Imaging Guidelines for the use of cardiovascular magnetic resonance in pediatric congenital and acquired heart disease

Disorder Genetic defect/mutation Histology Aortic disease
Marfan syndrome Fibrillin-1-encoding FBN-1 gene Vascular smooth muscle cell loss and cystic medial necrosis Aortic root dilatation and increased risk of aortic dissection
Vascular Ehlers-Danlos syndrome COL3A1 encoding Collagen III Increased fragility of vessels Increased risk of dissection and rupture often without dilation
Loeys-Dietz syndrome TGFBRI, TGFBRII, SMAD3 gene, TGFB2 gene, TGFB3 gene Increased medial collagen, elastic fiber fragmentation and medial degeneration Widespread arterial tortuosity, aneurysms and dissection (often without dilatation)
Turner syndrome 45 XO or mosaic 45 XO Cystic medial necrosis possibly secondary to primary neural crest defect in 4th branchial/pharyngeal arch leading to cardiac, vascular and lymph anomalies Aortic dilatation typically beginning at aortic root/ascending aorta, bicuspid aortic valve aortic coarctation
Noonan syndrome PTPN 11 mutation and other mutations in RAS-Mitogen activated protein kinase pathway Signal changes in several intracellular transduction pathways leading to cardiofacial abnormalities, abnormalities in valvulogenesis and lymphedema Aortic root dilation, ascending aorta dilatation, coronary artery aneurysms and pulmonary artery stenosis
Osteoarthritis-Aneurysm syndrome SMAD3 Disorganization of the tunica media, fragmentation and loss of elastic fibers and accumulation of collagen Aortic root dilation, aortic dissection and widespread aneurysms associated with early onset osteoarthritis
Non syndromic familial thoracic aneurysms and dissections ACTA2
Vascular smooth muscle cell protein abnormalities Familial thoracic aortic aneurysms and dissections