Article
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.
Hypertension (Dallas, Tex. : 1979) - 1 Apr 2018
Warejko Jillian K, Schueler Markus, Vivante Asaf, Tan Weizhen, Daga Ankana, Lawson Jennifer A, Braun Daniela A, Shril Shirlee, Amann Kassaundra, Somers Michael J G, Rodig Nancy M, Baum Michelle A, Daouk Ghaleb, Traum Avram Z, Kim Heung Bae, Vakili Khashayar, Porras Diego, Lock James, Rivkin Michael J, Chaudry Gulraiz, Smoot Leslie B, Singh Michael N, Smith Edward R, Mane Shrikant M, Lifton Richard P, Stein Deborah R, Ferguson Michael A, Hildebrandt Friedhelm
Abstract excerpt
Midaortic syndrome (MAS) is a rare cause of severe childhood hypertension characterized by narrowing of the abdominal aorta in children and is associated with extensive vascular disease. It may occur as part of a genetic syndrome, such as neurofibromatosis, or as consequence of a pathological inflammatory disease. However, most cases are considered idiopathic. We hypothesized that in a high percentage of these...
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