Open AccessGaucher Disease with Communicating Hydrocephalus and Cardiac Involvement
Author(s) -
Cindik N.,
Ozcay F.,
Süren D.,
Akkoyun I.,
Gökdemir M.,
Varan B.,
Alehan F.,
Ozbek N.,
Tokel K.
Publication year - 2010
Publication title -
clinical cardiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.263
H-Index - 72
eISSN - 1932-8737
pISSN - 0160-9289
DOI - 10.1002/clc.20348
Subject(s) - medicine , enzyme replacement therapy , hydrocephalus , disease , mitral valve replacement , aortic valve replacement , gaucher's disease , cardiac surgery , presentation (obstetrics) , surgery , valve replacement , cardiology , mitral valve , stenosis
A 14‐year‐old female with Gaucher disease presented with hydrocephalus, corneal opacities, cirrhosis, and cardiac valvular involvement. A homozygous D409H mutation was identified. She underwent surgery for aortic and mitral valve replacement. Because of severe calcification of the aortic root, no successful valve replacement was performed. She died on the third day after the explorative cardiac surgery. Cardiac abnormalities represent a life‐threatening presentation of the homozygous D409H mutation. Identification of this type is essential prior to initiating appropriate therapy with enzyme replacement and cardiac corrective surgery. Copyright © 2009 Wiley Periodicals, Inc.