Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0151744 (myocardial ischemia)
 31,282 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Williams syndrome (WS) is a malformation syndrome characterized by cardiovascular disease (supravalvular aortic stenosis, peripheral pulmonary stenosis), facial dysmorphism and growth/developmental delay, and now is known to be caused by deletion of elastin gene and other contiguous genes at chromosome 7. Sudden death has been reported in more than 25 patients with WS so far. Bird, et al (1996) reported 10 sudden death cases, 6 of which were associated with cardiac catheterization. Wessel, et al (2004) estimated the incidence of sudden death to be around 1/1000 patient years. Clinical and pathological findings in sudden death patients suggest that coronary artery stenosis, ventricular hypertrophy and myocardial ischemia are risk factors for sudden death in WS.
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PMID:[Williams syndrome]. 1600 80

Congenital disorders of glycosylation are a recently recognized group of inherited, multisystem disorders caused by aberrant biosynthesis of glycoproteins. We report the clinical and postmortem findings in a 3-year-old boy with a history of multiple medical issues including developmental delay, epilepsy, chronic protein-losing enteropathy, respiratory failure, nephropathy, coagulopathy, and cardiomyopathy. As part of the workup, isoelectric focusing for congenital disorders of glycosylation showed carbohydrate-deficient transferrin with the mono-oligo/dioligo ratio of 0.700 (normal, 0.075-0.109), indicating an increased level of abnormally glycosylated transferrin. After supportive care, he died secondary to multisystem complications of his disease. General autopsy findings were notable for micronodular liver cirrhosis with iron overload, myocardial ischemia and calcification, and hypertrophied glomeruli. Examination of the brain revealed cerebral and cerebellar atrophy, diffuse astrogliosis, and meningeal fibrosis. This article reveals complete autopsy findings of untyped congenital disorders of glycosylation, congenital disorders of glycosylation-x, with an undefined metabolic basis.
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PMID:Congenital disorder of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features. 1795 8