Severe cardiopathy in branching enzyme deficiency.

  title={Severe cardiopathy in branching enzyme deficiency.},
  author={Serenella Servidei and R E Riepe and Claire Langston and Lloyd Y. Tani and J. Timothy Bricker and N Crisp-Lindgren and Henry Travers and Derek G. Armstrong and Salvatore Dimauro},
  journal={The Journal of pediatrics},
  volume={111 1},
A 7 1/2-year-old girl had exercise intolerance and exertional dyspnea. Four months later, congestive heart failure developed, with recurrent chylous pleural effusions, and she died at age 8 1/2 years. Endomyocardial biopsy tissue showed abundant PAS-positive, diastase-resistant cytoplasmic deposits. Similar inclusions were seen in muscle, skin, and liver specimens. Postmortem studies showed that the abnormal polysaccharide was especially abundant in heart and muscle, but was also present in all… CONTINUE READING


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