CARDIOMYOPATHY IN A MALE WITH CYSTINOSIS

Cystinosis is a lysosomal storage disease classically associated with renal failure, photophobia, and hypothyroidism. Multi-organ dysfunctio n tends to develop over time, a factor of increasing significance as p atient survival improves. Herein, we describe a male patient with cyst inosis who developed a restrictive cardiomyopathy associated with myoc ardial cystine deposition and an approximately 1000-fold elevation in myocardial cystine levels. Renal failure necessitated a kidney transpl ant at age 12. At age 31, the patient was diagnosed with progressive c ardiac failure poorly responsive to aggressive antifailure therapy and risk factor modification. The patient died at age 33 in hypovolemic s hock due to a ruptured pseudoaneurysm at an old renal transplant site. (C) 1997 by Elsevier Science Inc.