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)

Refsum's disease is a polyneuropathy due to a hereditary error in the metabolism of a fatty acid, phytanic acid, usually leading to cardiac failure only at an advanced stage of the disease. The authors report the case of two brothers with Refsum's disease revealed by a heart failure before the clinical stage of the peripheral neuropathy. In the younger brother, the affection started at the age of 22 years by an acute pulmonary oedema which revealed a dilated, hypokinetic myocardiopathy, associated with retinitis pigmentosa, ptosis, anosmia and biological myolysis. The normal plasma concentration of phytanic acid measured several times led to the conclusion of Kearns-Sayre syndrome even if certain aspects were atypical (moderate conduction disorders, no characteristic aspect in the muscle biopsy). Five years later, the older brother, aged 28, presents a dyspnea on effort which leads to the discovery of a hypokinetic, hypertrophic myocardiopathy, slightly dilated, associated with cardiac conduction disorders, retinitis pigmentosa, anosmia and biological myolysis. The plasma concentration of phytanic acid being very high. Refsum's disease was diagnosed and the diagnosis of younger brother was corrected. From the study of these two cases, the characteristics of the cardiac disorders can be specified: the cardiopathy can reveal the disease and correspond to a dilated or hypertrophic myocardiopathy. The diagnosis of the disease can be difficult because the plasma phytanic acid may remain at normal level, thus requiring the assay of the activity of phytanate oxydase. The existence of ophthalmologic signs (retinitis pigmentosa or progressive ophthalmoplegia externa) associated with a myocardiopathy must systematically lead to a search for Refsum's disease, this diagnosis having fundamental therapeutic implications (died, even plasmapheresis).(ABSTRACT TRUNCATED AT 250 WORDS)
Ann Cardiol Angeiol (Paris) 1990 Mar
PMID:[Refsum's disease. Apropos of 2 cases disclosed by myocardiopathy]. 169 53

Kearns-Sayre syndrome is clinically defined by progressive external ophthalmoplegia, atypical retinitis pigmentosa and the potential occurrence of complete atrioventricular (AV) block. Right septal endomyocardial biopsy specimens from nine patients (four men and five women with a mean [+/- SD] [corrected] age of 36.3 +/- 14.4 years) with chronic progressive external ophthalmoplegia and mitochondrial skeletal myopathy were studied. Three patients had atypical retinal pigmentation. An atrioventricular or intraventricular conduction defect was observed in five patients. A pacemaker was prophylactically implanted in one patient because of abnormal conduction distal to the His bundle. Ultrastructural investigations revealed mitochondriosis in many heart muscle cells and an increased variability of mitochondrial form and size in all patients. In seven patients, 0.4 to 2.1% of all examined myocytes contained exclusively abnormal mitochondria. Three main types were observed: huge, mainly round mitochondria with concentric cristae; large, round or oval mitochondria with transverse or curved cristae; and small, vacuolated mitochondria. The volume density of myofibrils was reduced (41.9 +/- 11.1 compared with the normal value of 56.5 +/- 2.5 volume density [in percent], p less than 0.01) in these myocytes. Increasing numbers of vacuolated mitochondria correlated significantly with a reduction of myofibrils (r = -0.64, p less than 0.01). The data suggest that the ventricular myocardium of most patients with complete and even incomplete Kearns-Sayre syndrome is affected by disseminated mitochondrial cytopathy.
J Am Coll Cardiol 1988 Dec
PMID:Ultrastructural findings in endomyocardial biopsy of patients with Kearns-Sayre syndrome. 319 50

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.
G Ital Cardiol 1985 Dec
PMID:[Kearns-Sayre syndrome and mitral valve prolapse. Description of a clinical case]. 383 1

Kearns-Sayre syndrome was diagnosed in a 40-year-old female patient admitted for evaluation of symptomatic bradycardia. In addition to the classic triad--external ophthalmoplegia, pigmentary retinopathy, and heart block--she also had secondary amenorrhea, hearing loss, diabetes, and increased concentrations of blood lactate and pyruvate as manifestations of this multisystem disease. The echocardiographic examination disclosed asymmetric septal hypertrophy with a septal diastolic thickness of 17 mm and a septum to free wall ratio of 1.5. The left ventricular size and function were normal. Thus, asymmetric septal hypertrophy may represent subclinical heart muscle involvement in Kearns-Sayre syndrome.
Clin Cardiol 1984 Nov
PMID:Asymmetric septal hypertrophy in Kearns-Sayre syndrome. 654 86

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.
Arch Inst Cardiol Mex
PMID:Kearns-Sayre syndromes an absolute indication for prophylactic implantation of definitive pacemaker? 1074 53

Kearns-Sayre syndrome (KSS) is a multisystem mitochondrial disorder characterized by the invariant triad: onset before 20, progressive external ophthalmoplegia and pigmentary retinal degeneration, plus at least one of the following: complete (or not) heart block, cereberal dysfunction and CSF protein above 100 mg/dl. Autopsies from patients with KSS revealed widespread tissue distribution mtDNA deletions. These deletions result in significantly lower activities of the enzymes of the respiratory chain. The same deletion of mitochondrial DNA present in skeletal muscle is found in myocardial tissue. An 18-year-old girl diagnosed with the KSS was admitted to our hospital because of an upper respiratory tract infection and dysphagia. ECG showed cardiac conduction defects. The patient had no history of syncope. At her surface ECG there was a complete RBBB (QRS duration approximately 130 ms), a clockwise rotation with an axis of approximately 90 degrees and a slight QT prolongation (420 ms). Echocardiography showed prolapse with thickening and degeneration of both mitral valve leaflets but without mitral regurgitation. The patient was started on a diet rich in potassium and pharmaceutical therapy with magnesium oxide (240 mg of elemental Mg p.o. per day), 1 g of calcium carbonate t.i.d., vitamin D (calcitriol 0.25 microg p.o. per day) and coenzyme Q(10) 100 mg daily and discharged 6 days later with slightly improved biochemical profile but apparent clinical improvement. Urgent pacemaker implantation was decided but unfortunately the patient died due to acute cardiac arrest 10 days later.
Int J Cardiol 2002 May
PMID:Alarming atrioventricular block and mitral valve prolapse in the Kearns-Sayre syndrome. 1200 93

The Kearns-Sayre syndrome is a rare condition characterized by external ophthalmoplegia, retinal pigmentary degeneration and progressive impairment of cardiac conduction. We report a patient with the permanent pacemaker. The spontaneous cardiac impulse formation disappeared during long-term follow-up in this patient with Kearns-Sayre Syndrome.
Clin Cardiol 2009 Jun
PMID:Progression of conduction system disease in a paced patient with Kearns-Sayre syndrome. 1930 61

A 46-year-old woman was admitted due to diplopia because of ophthalmoplegia, which improved with corticosteroid therapy. Eight days later, she was admitted with fulminant myocarditis in cardiogenic shock, with severe left ventricular dysfunction and frequent episodes of nonsustained ventricular tachycardia. As there was no clinical improvement, an endomyocardial biopsy was performed that revealed inflammatory infiltrate, vasculitis, and PCR positive for cytomegalovirus, Epstein-Barr virus, parvovirus B19 and enterovirus. Left ventricular function recovered with heart failure treatment and corticosteroids. Three months later, after progressive withdrawal of prednisolone, there was recurrence of myocarditis and left ventricular dysfunction, which was successfully treated by restarting corticosteroid therapy. One month later she was readmitted with fulminant myocarditis which again responded to steroids. She intermittently presented cutaneous purpura lesions. At this time the provisional diagnosis was vasculitis and she started monthly cycles of cyclophosphamide. Before the second cycle she was admitted with pneumonia and ventricular dysfunction and died.
Rev Port Cardiol
PMID:[Fulminant myocarditis]. 2271 93

Attempted atrial transseptal puncture in a 63-year-old man undergoing an ablative procedure for atrial fibrillation was complicated by inadvertent delivery of an 8 Fr sheath across the aorta. Due to obesity-related perioperative risks, we opted for percutaneous repair rather than open-heart corrective surgery. Our case is unique for the novel percutaneous delivery of an Amplatzer atrial septal defect (ASD) closure device to the defect in the non-coronary aortic cusp through an 8 Fr left atrial multipurpose sheath not designed for this purpose. At 9-month follow-up, he had a mild residual internuclear ophthalmoplegia.
J Invasive Cardiol 2013 May
PMID:Percutaneous repair of aortic puncture with Amplatzer closure device during attempted transseptal puncture. 2364 57

Kearns-Sayre syndrome (KSS) is a mitochondrial disorder characterised by onset before the age of 20years, progressive external ophthalmoplegia, and pigmentary retinopathy, accompanied by either cardiac conduction defects, elevated cerebrospinal fluid protein or cerebellar ataxia. 50% of patients with KSS develop cardiac complications. The most common cardiac manifestation is conduction disease which may progress to complete atrioventricular block or bradycardia-related polymorphic ventricular tachycardia (PMVT). The management of cardiac electrical disease associated with KSS and mitochondrial cytopathy is systematically reviewed including the case of a 23year-old female patient with KSS who developed a constellation of cardiac arrhythmias including rapidly progressive conduction system disease and monomorphic ventricular tachycardia with myocardial scarring. The emerging role of cardiac magnetic resonance imaging (CMR) in detecting subclinical cardiac involvement is also highlighted. This review illustrates the need for cardiologists to be informed about this rare but emerging condition.
Int J Cardiol 2015 Feb 15
PMID:Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy. 2554 Aug 45


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