Open AccessDiagnosis and Management of Genetic Causes of Middle Aortic Syndrome in Children: A Comprehensive Literature Review
Author(s) -
Cecilia Lazea,
Camelia Alkhzouz,
Crina Șufană,
Diana Miclea,
Carmen Asăvoaie,
Ioana Filimon,
Otilia Fufezan
Publication year - 2022
Publication title -
therapeutics and clinical risk management
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.719
H-Index - 55
eISSN - 1178-203X
pISSN - 1176-6336
DOI - 10.2147/tcrm.s348366
Subject(s) - medicine , genetic syndromes , tuberous sclerosis , genetic disorder , disease , neurofibromatosis , pathophysiology , abdominal aorta , pathology , pediatrics , aorta
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.