Cardiomyopathy in a Male with Cystinosis

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.