Cardiac involvement in Sandhoff's disease. Inborn error of glycosphingolipid metabolism

Leonard C. Blieden; Robert J. Desnick; John B. Carter; William Krivit; James H Moller; Harvey L. Sharp

doi:10.1016/0002-9149(74)90097-6

Cardiac involvement in Sandhoff's disease. Inborn error of glycosphingolipid metabolism

Leonard C. Blieden, Robert J. Desnick, John B. Carter, William Krivit, James H Moller, Harvey L. Sharp

Medicine - Cardiology Division

Research output: Contribution to journal › Article › peer-review

35 Scopus citations

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)
Pages (from-to)	83-88
Number of pages	6
Journal	The American Journal of Cardiology
Volume	34
Issue number	1
DOIs	https://doi.org/10.1016/0002-9149(74)90097-6
State	Published - Jul 1974

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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.",

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AU - Moller, James H

AU - Sharp, Harvey L.

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AB - 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.

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