Progressive supra-aortic stenosis in a young adult with the findings of Singleton Merten Syndrome.
BMJ Case Rep
; 20142014 Sep 05.
Article
in En
| MEDLINE
| ID: mdl-25193816
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Osteoporosis
/
Aortic Diseases
/
Aortic Valve Stenosis
/
Odontodysplasia
/
Dental Enamel Hypoplasia
/
Vascular Calcification
/
Metacarpus
/
Muscular Diseases
Type of study:
Diagnostic_studies
/
Etiology_studies
Limits:
Child
/
Female
/
Humans
Language:
En
Journal:
BMJ Case Rep
Year:
2014
Document type:
Article
Affiliation country:
Turkey
Country of publication:
United kingdom