NOTCH 1 Mutation in a Patient with Spontaneous and Recurrent Dissections of Extracranial Arteries

Autor: Carlos Guevara, Gonzalo Farias, Kateryna Bulatova, Pablo Alarcón, Wendy Soruco, Carlos Robles, Marcelo Morales
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Zdroj: Frontiers in Neurology, Vol 8 (2017)
Druh dokumentu: article
ISSN: 1664-2295
DOI: 10.3389/fneur.2017.00245
Popis: Dissections of extracranial arteries are estimated to account for only 2% of all ischemic strokes but for approximately 20% of strokes in patients younger than 45 years old. Most dissections of extracranial arteries involve some trauma stretch, mechanical stress, or connective tissue abnormalities. In the absence of these disorders, determining the etiology of recurrent extracranial dissections is quite challenging because the underlying nature of these cases is poorly understood. We report the case of a 44-year-old female with recurrent dissections of the vertebral and carotid arteries associated with a heterozygous mutation p.Pro2122Leu in the NOTCH 1 gene. Her mother with a thoracic aortic aneurysm was also positive for this variant.
Databáze: Directory of Open Access Journals