期刊
WORLD JOURNAL FOR PEDIATRIC AND CONGENITAL HEART SURGERY
卷 11, 期 4, 页码 NP22-NP24出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/2150135117690105
关键词
mitral valve replacement; congenital heart disease; congenital heart surgery; adult congenital heart disease
Mucopolysaccharidosis type I is a genetic disorder with impaired glycosaminoglycan degradation. Cardiac pathologic involvement in this subset of patients is predominantly valvular heart disease. Valvular heart disease seen in these patients will most likely require surgical intervention in their lifetime. Only a limited amount of reports are dedicated to the cardiac surgical management of mucopolysaccharidoses. We present the case of a 32-year-old female with Hurler-Scheie syndrome who required multiple valve replacements due to progression of valvular dysfunction and decline in the quality of life. Multidisciplinary evaluation and discussion early are crucial for quality of life optimization in this cohort of patients.
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