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Edelman M, Silverstein D, Strom J, et al. Cardiomyopathy in a male with cystinosis. Cardiovasc Pathol. 1997;6(1):43-7doi: 10.1016/S1054-8807(96)00047-6.
Edelman, M., Silverstein, D., Strom, J., & Factor, S. M. (1997). Cardiomyopathy in a male with cystinosis. Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology, 6(1), 43-7. https://doi.org/10.1016/S1054-8807(96)00047-6
Edelman, M, et al. "Cardiomyopathy in a male with cystinosis." Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology vol. 6,1 (1997): 43-7. doi: https://doi.org/10.1016/S1054-8807(96)00047-6
Edelman M, Silverstein D, Strom J, Factor SM. Cardiomyopathy in a male with cystinosis. Cardiovasc Pathol. 1997 Jan;6(1):43-7. doi: 10.1016/S1054-8807(96)00047-6. PMID: 25943572.
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Cardiovasc Pathol. 1997 Jan;6(1):43-7. doi: 10.1016/S1054-8807(96)00047-6.

Cardiomyopathy in a male with cystinosis.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology

M Edelman, D Silverstein, J Strom, S M Factor

Affiliations

  1. Departments of, Montefiore Medical Center and Albert Einstein College of Medicine, Bronx, New York USA.
  2. Pediatrics (Nephrology), Montefiore Medical Center and Albert Einstein College of Medicine, Bronx, New York USA.
  3. Medicine (Cardiology), Montefiore Medical Center and Albert Einstein College of Medicine, Bronx, New York USA.
  4. Pathology, Montefiore Medical Center and Albert Einstein College of Medicine, Bronx, New York USA.

PMID: 25943572 DOI: 10.1016/S1054-8807(96)00047-6

Abstract

Cystinosis is a lysosomal storage disease classically associated with renal failure, photophobia, and hypothyroidism. Multi-organ dysfunction tends to develop over time, a factor of increasing significance as patient survival improves. Herein, we describe a male patient with cystinosis who developed a restrictive cardiomyopathy associated with myocardial cystine deposition and an ap-proximately 1000-fold elevation in myocardial cystine levels. Renal failure necessitated a kidney transplant at age 12. At age 31, the patient was diagnosed with progressive cardiac failure poorly responsive to aggressive antifailure therapy and risk factor modification. The patient died at age 33 in hypovolemic shock due to a ruptured pseudoaneurysm at an old renal transplant site.

Copyright © 1997 Elsevier Science Inc. All rights reserved.

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