Mucopolysaccharidosis type 2

A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.

Mitral stenosis

An abnormal narrowing of the orifice of the mitral valve.


Total: 1

                      


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PMID (PMCID)
6821104
MALE Adult
[Echocardiographic manifestations of the heart in the Hunter syndrome: report of a case].
Hada Y, Lee Y, Sakamoto T, Amano K, Yamaguchi T, Ishimitsu T, Takenaka K, Takahashi H, Takikawa R.
J Cardiogr. 1982;12(4):1043-53.
Hunter syndrome may be considered as one of the etiologies producing mitral stenosis.