Diagnosis and Management of Genetic Causes of Middle Aortic Syndrome in Children: A Comprehensive Literature Review

Abstract

Middle aortic syndrome (MAS) is a rare vascular disease representing an important cause of severe hypertension in children. MAS is characterized by segmental or diffuse narrowing of the abdominal and/or distal descending aorta with involvement of the renal and visceral branches. Most cases of MAS are idiopathic, but MAS may occur in genetic and acquired disorders. The most common genetic causes of MAS are neurofibromatosis type I, Williams syndrome, Alagille syndrome, tuberous sclerosis and mucopolysaccharidosis. This review article discusses the pathophysiological aspects, distinctive associated features, and management of genetic forms of MAS in children.

Keywords: Alagille syndrome; Williams syndrome; hypertension; middle aortic syndrome; mucopolysaccharidoses; neurofibromatosis type 1; tuberous sclerosis.

Figure 1

PRISMA flow diagram of study selection.

Figure 2

Thoracic and abdominal magnetic resonance angiogram in a 4-year-old boy with NF1 revealing the reduced caliber of the abdominal aorta (A), narrowed left renal artery (B), superior mesenteric artery (C) and celiac trunk at emergence (D). The diameter of aorta is 6.9 mm (Z score = −2.32) at celiac trunk emergence (arrow 1) and 3.8mm (Z score = −6.7) at bifurcation (arrow 2).

Figure 3

Thoracic and abdominal CT angiogram revealing reduced caliber of the abdominal aorta (Z score −3.8) – (arrow 1) and narrowed left renal artery (diameter < 1mm) – (arrow 2) in a 3-month-old boy with WS.