Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mitral valve prolapse (M.V.P.) is a noninflammatory degeneration of the mitral valve leaflets which results in a billowing of the redundant valve tissue toward the left atrium during the systolic phase. Mitral valve prolapse can be diagnosed by echocardiography or by auscultation where a characteristic mid-systolic click and late systolic murmur can be heard. Ophthalmic complications of MVP include chronic external progressive ophthalmoplegia and an association with keratoconus. In this case we present a case of a young woman who presented with sudden recurrent decrease in vision secondary to retinal arterioli emboli associated with the mitral valve prolapse syndrome.
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PMID:Mitral valve prolapse (Barlow's syndrome) and retinal emboli. 320 65

We report a clinical case with chronic progressive external ophthalmoplegia, retinal pigmentation and left anterior hemiblock (Kearns-Sayre Syndrome) associated with mitral valve prolapse. The mitral valve prolapse is present in familiar neuromuscular diseases. We think that mitral valve prolapse is expression of diffuse metabolic process of muscular heart in Kearns-Sayre Syndrome.
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PMID:[Kearns-Sayre syndrome and mitral valve prolapse. Description of a clinical case]. 383 1

Disorders characterized by both neurologic (ataxia, ophthalmoplegia, ptosis, neuromyopathy) and cardiologic (heart block, cardiomyopathy) abnormalities have been previously called the "ophthalmoplegia plus" syndromes. Most are not due to a specific enzyme defect or metabolic abnormality and thus may be similar phenotypic expressions of diverse causes. We studied seven patients with progressive external ophthalmoplegia and variable ataxia, with mitral valve prolapse and mitral regurgitation that progressed in severity as did the neuromuscular manifestations. Abnormal skeletal muscle biopsies showed "ragged-red" fibers or congenital fiber type disproportion; serum alanine levels were elevated; in-vivo and in-vitro tests of pyruvate metabolism gave abnormal results; C4 complement was decreased; and the patients' fibroblasts bound immunoglobulin when incubated with autologous serum. These data suggest a distinct neuromuscular disorder with metabolic and immunologic features associated with mitral valve prolapse and progressive mitral regurgitation.
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PMID:Mitral valve prolapse and ophthalmoplegia: a progressive, cardioneurologic syndrome. 634 61

Kearns-Sayre syndrome is a mitochondrial cytopathy characterized by chronic progressive external ophthalmoplegia, retinitis pigmentosa and heart block, the last of which determines the survival of these patients. The case of a 23 year old man with Kearns-Sayre syndrome, conduction disturbances and mitral valve prolapse is presented. The characteristics of this syndrome are described and the criteria for prophylactic installation of a pacemaker discussed.
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PMID:Kearns-Sayre syndromes an absolute indication for prophylactic implantation of definitive pacemaker? 1074 53