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.

Heart murmur

An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.


Total: 1

                      


(per page)
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.
A 21-year-old male of Hunter syndrome was referred to our noninvasive laboratory for the evaluation of his heart murmurs.