Natural History of Conduction Abnormalities in a Patient with Kearns-Sayre Syndrome

Agrawal, Hitesh; Ekhomu, Omonigho; Choi, Hyoung Won; Naheed, Zahra

doi:10.1007/s00246-012-0365-x

Cited by 6 publications

(5 citation statements)

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“…The progression rate of conduction defects differed widely in patients, ranging from several months to several years. Other reports also stressed that the primary cause of sudden death in KSS patients was high-grade heart block,[ 4 20 ] and the incidence of sudden cardiac death in KSS patients was 20% as reported,[ 18 20 ] making prompt pacemaker implantation a prerequisite in such conditions. However, most cases in our cohort showed no cardiac symptoms with bundle block detected on ECGs, and when syncope or sudden cardiac death presented, it had usually already progressed to a high-grade heart block.…”

Section: Discussionmentioning

confidence: 99%

Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome

Zhang

Wang

et al. 2016

Chinese Medical Journal

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Background:Kearns-Sayre syndrome (KSS) is a mitochondrial DNA (mtDNA) deletion disorder characterized by a triad of onset before 20 years of age, ophthalmoplegia, and pigmentary retinopathy. The heart and central nervous system are commonly involved. We summarized clinical and brain magnetic resonance imaging (MRI) features of a cohort of Chinese KSS patients.Methods:Nineteen patients confirmed by muscle biopsy and mtDNA analysis were enrolled. We examined clinical profiles, mainly focusing on changes in electrocardiogram (ECG) and brain MRI. The correlation between genotype and phenotype was statistically analyzed.Results:The mean age of onset was 9.6 ± 4.3 years, with all developing the classic triad at the time of diagnosis. Heart conduction block was detected in 63.2%, with four initially presenting as bundle branch block and developing into complete atrioventricular block over 3–72 months. Brain MRI showed symmetric high-T2 signals in 100% of cerebral and cerebellar white matter, as well as brainstem, 46.7% of basal ganglia, and 53.3% of thalamus. There were two patterns of cerebral white matter involvements, one with selective subcortical U-fibers and the other with periventricular white matter. The size of mtDNA deletion did not significantly correlate with age of onset or percentage of ragged blue fibers on muscle pathology.Conclusions:The clinical features of KSS evolve dynamically, affecting the cardiac conduction system predominantly, highlighting the significance of ECG monitoring. Brain MRI showed changes involving both the white matter and deep gray nuclei. Clinical presentation or severity of muscle pathological changes is not related to the size of mtDNA deletions.

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Section: Discussionmentioning

confidence: 99%

Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome

Zhang

Wang

et al. 2016

Chinese Medical Journal

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“…The continuous demand of ATP from oxidative metabolism renders cardiac myocytes the cells with the highest volume density of mitochondria in the body [ 23 ]. 57% of KSS patients suffer from cardiac problems, which primarily present as syncopal attacks, heart failure, and cardiac arrest due to cardiac conduction failure [ 24 ]. Pathological findings in KSS typically involve distal bundle of His as well as bundle branches and infra nodal conductions [ 25 , 26 ].…”

Section: Discussionmentioning

confidence: 99%

Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad

Pang

Lee

kei

et al. 2022

Case Reports in Genetics

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A curious triad of retinitis pigmentosa, external ophthalmoplegia, and complete heart block was presented by Sayre et al. in 1958. Since then, the disorder named Kearns–Sayre syndrome (KSS) has come to represent patients with mitochondrial DNA deletions presenting before adulthood, primarily with chronic progressive external ophthalmoplegia (CPEO) and pigmentary retinopathy. However, it is increasingly noted that the presentations can well be variable despite similar genetic deletions. Here, we present two cases with identical large-scale mitochondrial DNA deletions but very dissimilar outlook.

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“…Patients with KSS typically develop cardiac conduction defects that progress to complete heart block and then manifest clinically as heart failure, syncope or sudden death. Cases described in the literature show the progressive course of life-threatening conduction abnormalities in KSS [14]. Patients who do not have conduction disturbances should be closely monitored for the development of conduction defects.…”

Section: Case Presentationmentioning

confidence: 99%

A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment

et al. 2013

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BackgroundKearns-Sayre Syndrome (KSS) is a multisystem disorder caused by a dysfunction of the oxidative phosphorylation system within mitochondria. Mitochondrial DNA (mtDNA) rearrangements are a key molecular feature of this disease, which manifest a broad phenotypic spectrum.Case presentationHere, we present a boy with KSS whose symptoms included cardiac conduction deficit, cardiomyopathy and growth hormone (GH) deficiency. The patient showed typical symptoms for KSS from early childhood (chronic progressive external ophthalmoplegia, retinopathy, short stature). Long-range PCR analysis disclosed a 7663-base pair heteroplasmic deletion in the mtDNA encompassing nucleotides 6340–14003. At 12 years of age, GH deficiency was recognized and recombinant growth hormone (rGH) therapy was started. At 15 years of age, a complete atrioventicular block was diagnosed and the patient received a pacemaker. During the following 6 months, progressive deterioration of the left ventricle was observed and an echocardiogram showed features of dilated cardiomyopathy. The rGH treatment was then discontinued at a final height of 163 cm. Unfortunately, due to multi-organ insufficiency and inflammation, the patient died at the age of 18 years.ConclusionsThe response to rGH therapy in the patient was very satisfactory. The large mtDNA deletion had no apparent impact on the response to rGH. Cardiac disturbances occurred as part of the syndrome and were not related to rGH therapy; however, the progression of the disease led to death.

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Natural History of Conduction Abnormalities in a Patient with Kearns-Sayre Syndrome

Cited by 6 publications

References 5 publications

Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome

Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome

Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad

A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment

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