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Cardiac involvement in infantile Sandhoff disease
Author(s) -
Venugopalan P,
Joshi SN
Publication year - 2002
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1046/j.1440-1754.2002.00765.x
Subject(s) - medicine , interventricular septum , ventricular outflow tract obstruction , regurgitation (circulation) , mitral regurgitation , cardiology , disease , mitral valve prolapse , mitral valve , left ventricular hypertrophy , blood pressure , ventricle
: An 18‐month‐old boy with enzyme assay‐confirmed infantile Sandhoff disease (MIM 268800) is reported. Besides the classical neurological features, this patient exhibited severe mitral regurgitation secondary to mitral valve prolapse and mild aortic regurgitation from aortic valve prolapse. He also had asymmetric hypertrophy of the interventricular septum without left ventricular outflow tract obstruction.