Researchers attempted to characterize the features of middle aortic syndrome (MAS), reporting it to be a rare vascular disease that is commonly caused by genetic conditions such as Alagille syndrome, Williams syndrome, and neurofibromatosis type 1. Their study is published in Therapeutics and Clinical Risk Management.

MAS is a rare disease in which diffused or segmental narrowing of the abdominal aorta and/or distal descending aorta occurs. There is typically renal and visceral branch involvement. MAS is a major cause of severe hypertension in children.

Studies demonstrate that the cause of MAS can be idiopathic, genetic, or acquired. Genetic causes account for 7% to 36% of cases. As for acquired causes, Takayasu arteritis, other nonspecific arteritis processes, and congenital rubella feature prominently. 


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To carry out their research, the team used electronic literature databases to conduct a systematic literature search. The key inclusion criteria of the papers reviewed were that the patients must have been aged less than 18 years and have MAS of genetic origin. A total of 136 articles met the inclusion criteria. 

Read more about Alagille syndrome etiology

Researchers discovered that Alagille syndrome accounted for 1% to 8% of MAS cases. There is a biologically plausible explanation as to how Alagille syndrome drives MAS pathology; the authors of the study wrote, “Mutations of JAG1 and Notch regulation signaling defect will determine defects in angiogenic vascular remodeling and abnormal vessel structure.” The main treatments for patients with MAS Alagille syndrome included endovascular and surgical intervention, as well as medical therapy. 

The authors of the study ended their review by recommending medical vigilance. They wrote, “In terms of clinical practice, we recommend evaluating the children with MAS in detail because they may present other specific manifestations for certain genetic diseases, and on the other hand, it is necessary to detect the presence of MAS in children who were already diagnosed with certain genetic diseases.”

Reference

Lazea C, Al-Khzouz C, Sufana C, et al. Diagnosis and management of genetic causes of middle aortic syndrome in children: a comprehensive literature reviewTher Clin Risk Manag. 2022;18:233-248. doi:10.2147/TCRM.S348366