Singleton Merten Syndrome: A Rare Cause of Early Onset Aortic Stenosis.
Singleton Merten syndrome (SMS) is a rare autosomal dominant genetic disorder with variable expression. Its characteristic features include abnormal aortic calcification, abnormal ossification of extremities, and dental anomalies. We present a young man with dyspnea who was noted to have aortic stenosis in the background of glaucoma, psoriasis, dental anomalies, hand and foot deformities, Achilles tendinitis, osteopenia, and nephrolithiasis. The conglomeration of features led to the diagnosis of SMS. His mother had a very similar phenotype.
Department of Medicine, University of Illinois College of Medicine at Peoria, Peoria, IL, USA.
Harshavardhan
0000-0002-2130-6768
H
Ghadiam
Division of Cardiology, University of Illinois College of Medicine at Peoria, Peoria, IL, USA.
Sudhir
S
Mungee