Preview

Journal of Arrhythmology

Advanced search

Follow-up of a child with kearns-sayre syndrome and implanted pacemaker: a case report

https://doi.org/10.35336/VA-1506

Abstract

A clinical case of a child with a rare mitochondrial disease, Kearns-Sayre syndrome, who had a pacemaker implanted due to the development of complete atrioventricular block, is presented for the first time in the Republic of Kazakhstan. The issues of complex diagnostics and management tactics are discussed.

About the Authors

A. Y. Bokach
Multi-profile hospital No.2 in Karaganda
Kazakhstan

Karaganda, 23 Krylova str. 



N. S. Igembekov
Multi-profile hospital No.2 in Karaganda
Kazakhstan

Karaganda, 23 Krylova str. 



Zh. E. Serikova
Multi-profile hospital No.2 in Karaganda
Kazakhstan

Serikova Zhaniya 

Karaganda, 23 Krylova str. 



References

1. Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Arch Ophthalmol. 1958;60(2): 280-9.

2. Shemesh A, Margolin E. Kearns-Sayre Syndrome. [Updated 2023 Jul 17]. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK482341/

3. Finsterer J. Kearns-Sayre Syndrome. Orpha.net. 2021- 09-01. Available from: https://www.orpha.net/en/disease/detail/480?name=ORPHA480&mode=orpha

4. MedlinePlus [Internet]. Bethesda (MD): National Library of Medicine (US) National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department of Health and Human Services National Institutes of Health. Last updated December 1, 2011. Available from: https://medlineplus.gov/genetics/condition/kearns-sayre-syndrome/#frequency

5. Zhu Q, Chen C, Yao J. Kearns-Sayre syndrome with a novel large-scale deletion: a case report. BMC Ophthalmol. 2022 Jan 24;22(1):35. https://doi.org/10.1186/s12886-021-02224-7.

6. Vlasenko SV, Ponomarenko EN, Kushnir GM, et al. Clinical case study of Kearns-Sayre syndrome: diagnosis, methods of treatment. Neuromuscular Diseases. 2018;8(3):51-57. (In Russ.) https://doi.org/10.17650/2222-8721-2018-8-3-51-57

7. Tsang SH, Aycinena ARP, Sharma T. Mitochondrial Disorder: Kearns-Sayre Syndrome. Adv Exp Med Biol. 2018;1085: 161-162. https://doi.org/10.1007/978-3-319-95046-4_30.

8. Saldaña-Martínez A, Muñoz ML, Pérez-Ramírez G, et al. Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants. Gene. 2019;688: 171-181. https://doi.org/10.1016/j.gene.2018.11.085.

9. Rashbaeva GS, Kabaev UT, Abdrakhmanov AS, et al. Clinical protocols of the Ministry of Health of the Republic of Kazakhstan, Cardiac conduction disorder, 2014. Available from: https://diseases.medelement.com/disease (In Russ.).

10. Wiseman K, Gor D, Udongwo N, et al. Ventricular arrhythmias in Kearns-Sayre syndrome: A cohort study using the National Inpatient Sample database 2016-2019. Pacing Clin Electrophysiol. 2022 Dec;45(12):1357-1363. https://doi.org/1010.1111/pace.14607.

11. Kharbouch H, Boussaadani B, Fellat I, et al. Kearns Sayre syndrome: a rare etiology of complete atrioventricular block in children (case report). Pan Afr Med J. 2021;40: 154. https://doi.org/10.11604/pamj.2021.40.154.24281.

12. Groh WJ, Bhakta D, Tomaselli GF et al. 2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders. Heart Rhythm. 2022;19(10): e61-e120. https://doi.org/10.1016/j.hrthm.2022.04.022.

13. Di Mambro C, Tamborrino PP, Silvetti MS, et al. Progressive involvement of cardiac conduction system in paediatric patients with Kearns-Sayre syndrome: how to predict occurrence of complete heart block and sudden cardiac death? Europace. 2021 ;23(6): 948-957. d https://doi.org/10.1093/europace/euaa335.


Review

For citations:


Bokach A.Y., Igembekov N.S., Serikova Zh.E. Follow-up of a child with kearns-sayre syndrome and implanted pacemaker: a case report. Journal of Arrhythmology. 2025;32(3):51-54. (In Russ.) https://doi.org/10.35336/VA-1506

Views: 80


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 1561-8641 (Print)
ISSN 2658-7327 (Online)