Heart Block in Kearns-Sayre Syndrome

Clark, Daniel; Myerburg, Robert J.; Morales, Azorides R.; Befeler, Benjamin; Hernandez, Francisco A.; Gelband, Henry

doi:10.1378/chest.68.5.727

Cited by 42 publications

(12 citation statements)

References 12 publications

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“…KSS spinal involvement is underreported in the literature, although it is well-known that clinical manifestations of the disorder may include sensory neuropathy, such as limb paresthesia and dorsal column loss [3,12]. Moreover, several autopsy-based studies provide pathologic evidence for spinal involvement, characterized by white and gray matter vacuolization in the cervical segment, predominantly involving the posterior columns [5,[13][14][15][16][17][18][19]. Our findings in vivo support these observations.…”

Section: Discussionsupporting

confidence: 81%

Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study

et al. 2020

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Purpose Spinal cord involvement in Kearns-Sayre (KSS) syndrome could be more frequent than commonly thought. Our aims were to evaluate the involvement of the spinal cord in patients with KSS by means of MRI and to investigate possible correlations of spinal and brain disease with patient disability. Methods Eleven patients with KSS disease and spinal cord MRI were retrospectively recruited. The severity of spinal disease was defined as follows: grade 0 (none), grade 1 (focal), and grade 2 (extensive). We calculated a radiologic score of brain involvement based on typical features. We performed a chi-square test to correlate spinal cord and brain MRI involvement to patient disability. For significant variables, a contingency coefficient, phi factor, and Cramer’s V were also computed. Results Spinal cord lesions were detected in 6/11 patients, showing four patterns: involvement of gray matter, gray matter and posterior columns, posterior columns, and anterior columns. The severity of spinal disease was grade 1 in two and grade 2 in four patients. All patients showed brain involvement (9-point average for patients with spinal involvement and 10 for the others). A significant correlation was found between disability score and spinal cord involvement (χ2 = 7.64; p = 0.022) or brain score (χ2 = 26.85; p = 0.043). Significance for brain score-disability correlation increased with the spinal cord as a cofactor (χ2 = 24.51; p = 0.017, phi factor = 1.201, Cramer’s V = 0.849, contingency effect = 0.767; p = 0.017). Conclusion Spinal cord lesions are common in KSS. Patients with spinal disease show higher disability than patients without spinal cord lesions, supporting the inclusion of dedicated acquisitions to routine MRI of the brain in patients with KSS.

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Section: Discussionsupporting

confidence: 81%

Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study

et al. 2020

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“…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 ]. ECG changes begin as prolonged PR interval and progress over time to 2nd and 3rd degree heart block.…”

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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“…Las EM pueden ocasionar trastornos de conducción potencialmente letales en ausencia de cardiopatía estructural. De hecho, algunos de los casos de MSC por EM descritos en la literatura han cursado como SMSA y la confirmación diagnóstica ha sido posible tras el estudio genético (9,(15)(16)(17).…”

Section: Corazón Estructuralmente Normalunclassified

Sudden cardiac death in mitochondrial diseases

Tenhaeff Lackschewitz,

Molina Aguilar,

Mancheño Franch

et al. 2022

Cuadernos De Medicina Forense

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Mitochondrial diseases (MD) constitute a heterogeneous group of genetic disorders that result from the dysfunction of the final common pathway of energy metabolism. The responsible mutation can be found in genes encoded in nuclear DNA or in mitochondrial DNA, causing differences in the clinical presentation and inheritance pattern. Most of these diseases have a multisystemic impact, mainly affecting tissues with a high oxidative energy requirement (heart muscle, skeletal muscle, and brain, for instance). Although death in DM is usually related to the clinical severity of the disease, sudden cardiac death (SCD) is possible also in patients with mild manifestations or even in asymptomatic individuals. This review aims to identify reported cases of SCD in MD (either diagnosed in life or at post mortem studies) and comprehensively analyze the macroscopic and microscopic pathological features described. There are only few documented cases (27), but the lack of notable cardiac phenotypic features in some cases, their low specificity, the scarce clinical personal and family information when the autopsy is performed and the little awareness of these diseases among doctors raise the suspicion that MD are infradiagnosed and many cases remain overlooked. Definitely, a correct diagnosis requires a high level of suspicion and a multidisciplinary approach with pathological and cardiological specialized tests both in the deceased proband and in the at-risk relatives to confirm or discard DM in order to tailor the follow-up, treatment and genetic counselling.

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Heart Block in Kearns-Sayre Syndrome

Cited by 42 publications

References 12 publications

Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study

Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study

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

Sudden cardiac death in mitochondrial diseases

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