Cardiac Dysfunction In Patients With Chronic Progressive External Ophthalmoplegia

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SCIENTIFIC REPORT Human extraocular muscles in mitochondrial

dysfunction. Both chronic progressive external ophthalmoplegia (CPEO) and Leber s hereditary optic neuropathy (LHON) are the result of mitochondrial DNA (mtDNA) mutations that lead to mitochondrial dysfunction. CPEO is characterised by pro-gressive lossofmuscles activity andnear complete ophthalmo-plegia at the late stages.2 On the other hand

Methods Case Report

deletions are mainly observed in patients with Kearns-Sayre syndrome, chronic progressive external ophthalmoplegia, and Pearson syndrome, and about one third of all patients with mitochondrial DNA deletions show a 4977 base pair deletion, known as the common deletion. 1,2 However, there is a considerable overlap among these clinical syn-

Cardiac dysfunction in patients with chronic progressive

ConcZusion: Although cardiac involvement in patients with CPEO is generally considered to be limited to the cardiac con- duction system, left ventricular dysfunction may be present and should receive more attention in the management of pa- tients with CPEO. Key words: chronic progressive external ophthalmoplegia,

Directly Repeated Sequences Associated with Pathogenic

oxygen consumption by isolated mitochondria (patients 3 and 4) (12). Frozen autopsy specimens were obtained from a 13-year-old girl with chronic external ophthalmoplegia and cardiac dysfunction, studied clinically and biochemically at the Wayne State University School of Medicine (13). All studies were approved by the Joint Committee on Clinical

Journal of Medical Case Reports BioMed Central

progressive encephalomyopathy with cerebellar ataxia, the initial diagnosis was not KSS. Subsequently, he devel-oped progressive external ophthalmoplegia, retinopathy, heart block, and diabetes mellitus. The diagnosis was delayed for many years. The patient's initial infant development was normal (Fig-ure 1).

Cerebral MR in Ophthalmoplegia Plus

chronic progressive external ophthalmoplegia, cardiac and retinal manifestations, peripheral neuropathy, and hypacusis (2, 4). Kearns-Sayre syndrome, in contrast, is defined by the typical triad of chronic progressive exter­ nal ophthalmoplegia, pigmentary retinopathy, and onset before age 15 years, with one of the

Cardiomyopathy in the Kearns-Sayre syndrome

chronic progressive external ophthalmoplegia, dysfunction. Wereporta notperformed,andit wassuggestedthathis cardiac failure resulted from a chronic high

Mitochondrial disease clinical manifestations: An overview

Chronic progressive external ophthalmoplegia (CPEO) and ptosis. The ptosis evident and the lack of eye movement demonstrated when the patient was asked to look up (A), to look left (B), to look right (C), and to look down (D) both indicate the presence of a mitochondrial disease. tion, diarrhea, and intestinal pseudo-obstruc tion. Fat

Sciatic Nerve Block with Ropivacaine and Prilocaine in a

reactions in patients suffering from a mitochondrial myo- pathy. We describe the perioperative anesthetic man-agement and pain management of a patient with chronic progressive external ophthalmoplegia scheduled for com- plex forefoot and ankle surgery. The use of ropivacaine in combination with prilocaine for peripheral nerve block

Inhalation anaesthesia and the Kearns-Sayre syndrome

of progressive external ophthalmoplegia [I]. The syndrome is characterised by four clinical criteria: progressive external ophthalmoplegia, pigmented degeneration of the retina, atrioventricular conduction defects and onset before the age of 20 years. These patients are extremely sensitive to the effects of induction agents [2,3].

Mitochondrial aberrations and ophthalmic diseases

Jul 20, 2015 progressive external ophthalmoplegia (PEO) and Kearns-Sayre Syndrome (KSS). Ocular involvement is a prominent clinical feature of various mitochondrial diseases as well. The known mitochondrial disorders such as Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Myoclonic epilepsy with

Genetic Testing of Mitochondrial Disorders

Chronic progressive external ophthalmoplegia (CPEO); Lieber hereditary optic neuropathy (LHON); Neurogenic weakness with ataxia and retinitis pigmentosa (NARP). Most of these disorders are characterized by multisystem dysfunction, which generally includes myopathies and neurologic dysfunction and may involve multiple other organs.

REVIEW The genetics of strabismus -

loss, and a retinal dystrophy. Cardiac conduction defects are a major cause of premature death. A number of clinical phenotypes with strabis-mus and abnormal eye movements are recog-nised including chronic progressive external ophthalmoplegia1 and Kearns-Sayre syndrome (KSS).2 Chronic progressive external ophthalmoplegia (CPEO)

Kearns Sayre syndrome - Orphanet

1. Chronic progressive external ophthalmoplegia [CPEO] caused by advancing weakness of the levator palpebrae, orbicularis oculi and other extra-ocular muscles. 2. Atypical retinitis pigmentosa ( Salt-and-pepper fundus of depigmentation, hyperpigmentation and chronic inflammation). 3.

Mitochondrial DNA Mutations in Human Disease

were identified in families with autosomal dominant chronic progressive external ophthalmoplegia (adPEO) and an accu-mulation of multiple mtDNA deletions was demonstrated in affected tissues. Since then, both compound heterozygous and homozygous POLG1 mutations have been described in recessive PEO, adult-onset spinocerebellar ataxia with multi-

Mitochondrial diseases: expanding the diagnosis in the era of

defining multiple mitochondrial syndromes, for example chronic progressive external ophthalmoplegia (CPEO) and, when accompanied by myopathy, CPEO plus. Leigh syndrome, first described by Denis Leigh, was defined initially by pathological findings and later by MRI changes, together with the clinical

Guidelines for Physical and Occupational Therapy

Chronic Inflammatory Demyelinating Polyneuropathy CIDP is a chronic counterpart to Guillain-Barré syndrome, and also is characterized by symmetrical weakness and sensory changes. New cases of the condition are rare compared to GBS 5 to 6 new patients per ,000,000 population each year but because


Executive and visuospacial deficits in patients with chronic progressive external ophthalmoplegia with kearns Sayre syndrome. Brain 2003;126:1231-40 8. Saudifer PH. Chronic progressive ophthalmoplegia of myopathic origin J Neurol neurosurg and psychiatry. 1946; 9:81-83. 9. Harvey JN, Barnett D. Endocrine dysfunction in Kearns-Sayre syndrome.

Retinoschisis associated with Kearns-Sayre syndrome

classically characterized by external ophthalmoplegia, retinitis pigmentosa, and cardiomyopathy/cardiac conduction defects (1,2). Patients usually present before twenty years of age and can exhibit additional signs/symptoms, including: ptosis, cere-bellar ataxia, Pearson s syndrome (sideroblastic anemia, exo-


the natural history of the disorder. (6) Identification of complications such as diabetes mellitus and cardiac dysfunction is important for early treatment of these conditions. A number of vitamins and cofactors (eg, coenzyme Q, riboflavin) have been used, but empiric evidence of benefit is lacking. (7) Exercise therapy

RESEARCH Open Access Characteristic cardiac phenotypes are

cardiac abnormalities ranging from conduction abnormalities and arrhythmias to hypertrophic or dilated cardiomyopathy in these patients. Recently, characteristic patterns of cardiac involvement were documented by cardiovascular magnetic resonance (CMR) in patients withchronic progressive external ophthalmoplegia

Severity of cardiomyopathy associated with adenine nucleotide

c.111+1G > A) (5, 6) in patients who had cardiomyopathy and mitochondrial myopathy without the chronic progressive external ophthalmoplegia (CPEO) characteristic of certain autosomal dominant ANT1 missense mutations (L98P, A90D, D104G, A114P, and V289M) (7 10). There are four ANT isoforms in humans; ANT1 is the pre-

MR Demonstration of Leukoencephalopathy Associated with

syndromes: KSS, MELAS. or MERRF. Patients with KSS have progressive external ophthalmoplegia, pigmentary de­ generation of the retina, and defects in the cardiac conduction secondary to degeneration of the His-Purkinje system [15]. However, all of these features do not have to be present for

Retinal Function and Structure in Ant1-Deficient Mice

myopathy is ophthalmoplegia, followed by optic neuropathy and pigmentary retinopathy,7,8 all fairly rare diseases. Pigmen-tary retinopathy is most often seen in a subset of patients with chronic progressive external ophthalmoplegia, called Kearns-Sayre Syndrome, and in patients with MELAS (mitochondrial


to 3 cases in 100.000 inhabitants [2]. The triad of chronic progressive external ophthalmoplegia, bilateral pigmentary retinopathy, and cardiac conduction abnormalities was first described in a case report of two patients in 1958 by Kearns and Sayre [3]. From a clinical point of view, it is characterised by onset before 20 years of age, ptosis

Mitochondrial A with ragged red fibres muscle

chondria in muscle cell cultures of patients with ophthalmoplegia plus, and postulated an impaired regulation of the mitochondrial DNA-instructed protein synthesis system. The prognosis seems to depend mainly on the progressive cardiac conduction defects, if these are present, since several patients have died in their

Cardiac-Targeted Transgenic Mutant Mitochondrial Enzymes

Y955C Pol γ causes human chronic progressive external ophthalmoplegia (CPEO), an inherited disorder characterized by mtDNA depletion and mtDNA mutations [3]. Like Pol γ, thymidine kinase 2 (TK2) is a nuclear encoded enzyme. TK2 is a mitochondrial pyrimidine deoxynucleoside salvage enzyme involved in pyrimidine nucleoside

MtDNA-maintenance defects: syndromes and genes

athy characterized by chronic progressive external ophthalmoplegia, CPEO, and inherited in an autosomal domi-nant fashion (Zeviani et al 1989). Maternal inheritance was excluded because the male patients also transmitted the disease to their offspring. Since then , many additional autosomal dom-inant CPEO families have been described. A second

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of chronic progressive external ophthalmoplegia which can be transmitted as a recessive or dominant trait. CLINICAL PRESENTATIONS Some patients with mitochondrial disease present with a classical syndrome (table 1). These syndromes are well known and described in most textbooks and review articles.3, 4, 6

Systematic review and meta-analysis of cardiac involvement in

chronic progressive external ophthalmoplegia [CPEO] or other phenotypes of MM). Clinical syndromes were defined based on how they had been identified within individual Glossary BBB = bundle branch block; CI = confidence interval; CMR = cardiac MRI; CPEO = chronic progressive external

Directly repeated sequences associated with mitochondrial DNA

13-year-old girl with chronic external ophthalmoplegia and cardiac dysfunction, studied clinically and biochemically at the Wayne State University School of Medicine (13).

Metabolic and Muscle Adaptation to Aerobic Training in

Aim of this study was to evaluate in 9 patients af-fected by chronic progressive external ophthalmoplegia (CPEO) and large-scale mtDNA rearrangements functional adaptation of skeletal muscle to aerobic training, and to relate it to muscle biopsies parameters assessed before the training. To this purpose, CPEO patients


Chronic progressive external ophthalmoplegia (PEO or CPEO) Complex I, II, III, IV or V (or combination of complexes) Carnitine Deficiency Lactic Acidosis Leber s hereditary optic neuropathy (LHON) Fatty oxidation disorders (FODs) For more information: United Mitochondrial Disease Foundation 8085 Saltsburg Road, Suite 201

Disease impact in chronic progressive external

Chronic progressive external ophthalmoplegia (CPEO) is one of the most common mitochondrial disorders in adults [1]. The defining symptom is a slowly progressive extraocular muscle weakness. Multi-system involvement is however common, causing functional impairments sec-ondary to dysfunction of (proximal) skeletal muscles, ret-

Mitochondrial disease in adults: what s old and what s new?

patients with chronic progressive external ophthalmoplegia and early dysphagia are more likely to have RR2BM mutations rather than a large single deletion of mtDNA as a cause of their mitochon-drial disease (Pitceathly et al, 2012). Lower GI dysmotility is also a more common feature than was previously anticipated, with many

Education in Heart

chronic progressive external ophthalmoplegia syn-dromes. 35. Abnormalities range from simple PR interval prolongation to infranodal high-degree atrioventricular (AV) block. Although mechanisms are currently unknown, differences in mutation load or in sensitivity of different cardiac cell types to mtDNA dysfunction may account for this

Testing for 65 Confirmed Disease-Associated Mitochondrial DNA

LHON (Together 11778G>A, 3460G>A and 14484T>C account for 95% of patients with LHON. Of the three 11778G>A is the most common, present in ~70% of Caucasian patients and 90% of Asian patients) 4. Progressive Dystonia. 15. G12147A MERFF-MELAS/ Encephalopathy. 15. G12315A Chronic Progressive External Ophthalmoplegia/ Kearns Sayre Syndrome. 15

Mitochondrial Disease & its Anesthetic Considerations

S Careful cardiac assessment including EKG and echocardiography. S Renal and Hepatic function S All clinical manifestations of MD, including seizures, arrhythmias, cardiac dysfunction, myopathy, and endocrinopathies, can be worsened by trauma, illness, or surgical stress. S Duration of NPO status

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chain reaction, or sequence analysis can be performed on the particular gene. For other mitochondrial diseases, such as chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome, the most common variants are deletions, and therefore duplication and deletion analysis would be the first test when these disorders are suspected.

Testing for 65 Confirmed Disease-Associated Mitochondrial DNA

chronic progressive external ophthalmoplegia (CPEO), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP) or Leigh