Abstract
Two siblings with Sandhoff's disease manifested clinical and laboratory evidence of significant cardiomyopathy. Postmortem examination of the hearts of both patients revealed anatomic, biochemical and ultrastructural abnormalities resulting from deficient activities of the enzymes hexosaminidase A and B. A study of the biochemical and ultrastructural changes in the hearts revealed the accumulation of the glycosphingolipid globoside in all cardiac tissues. The necropsy findings indicate that Sandhoff's disease should be considered in the differential diagnosis in infants with cardiomyopathy or mitral insufficiency.
Original language | English (US) |
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Pages (from-to) | 83-88 |
Number of pages | 6 |
Journal | The American Journal of Cardiology |
Volume | 34 |
Issue number | 1 |
DOIs | |
State | Published - Jul 1974 |