Progressive supra-aortic stenosis in a young adult with the findings of Singleton Merten Syndrome
Citation
Özyüksel, A., Ersoy, C., Cantürk, E. ve Akçevin, A. (2019). Progressive supra-aortic stenosis in a young adult with the findings of Singleton Merten Syndrome. BMJ Case Reports, 2014. https://dx.doi.org/10.1136/bcr-2014-205985Abstract
Singleton Merten Syndrome is an autosomal dominant disorder of unknown origin. Patients often present with muscular weakness, failure to thrive, abnormal dentition, glaucoma, psoriatic skin lesions, aortic calcifi cation and musculoskeletal abnormalities. In this case, we present a young girl with a history of aortic root replacement, who had an unusual progressive supra-aortic stenosis managed with urgent surgery during the course of the syndrome. Cardiovascular involvement needs special attention, since it is the major cause of mortality along with rhythm disturbances in the course of Singleton Merten Syndrome.
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BMJ Case ReportsVolume
2014Collections
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