Abstract
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 calcification 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.
2014 BMJ Publishing Group Ltd.
MeSH terms
-
Aortic Diseases / complications*
-
Aortic Diseases / diagnostic imaging
-
Aortic Valve Stenosis / diagnostic imaging
-
Aortic Valve Stenosis / etiology*
-
Aortic Valve Stenosis / surgery*
-
Brain / diagnostic imaging
-
Brain / pathology
-
Calcinosis / diagnostic imaging
-
Child
-
Dental Enamel Hypoplasia / complications*
-
Dental Enamel Hypoplasia / diagnostic imaging
-
Disease Progression
-
Female
-
Humans
-
Metacarpus / abnormalities*
-
Metacarpus / diagnostic imaging
-
Muscular Diseases / complications*
-
Muscular Diseases / diagnostic imaging
-
Odontodysplasia / complications*
-
Odontodysplasia / diagnostic imaging
-
Osteoporosis / complications*
-
Osteoporosis / diagnostic imaging
-
Radiography
-
Recurrence
-
Syncope / etiology
-
Vascular Calcification / complications*
-
Vascular Calcification / diagnostic imaging
Supplementary concepts
-
Singleton Merten syndrome