Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Seven members of four families had nystagmus noted by 4 months of age, poor vision, photophobia, and a markedly reduced or absent electroretinogram. Six of these patients had a life threatening episode of cardiac failure in infancy. There were also two neonatal deaths, and one of the affected children died at 2 years and one at 19 years. The five surviving children are well, remain with nystagmus, and have visual acuities of less than 6/60, with the eldest two having lost perception of light. They have a short obese habitus distinct from that of their unaffected siblings and parents.
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PMID:Leber's congenital amaurosis--a new syndrome with a cardiomyopathy. 271 2

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.
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PMID:Cardiomyopathy in a male with cystinosis. 2594 72