Document Type : Case Report
Authors
- Mohammad Hossein Nikoo 1
- Mohammad Reza Hatamnejad 2
- Zahra Emkanjoo 3
- Alireza Arjangzade 4
- Mehdi Motahari Moadab 4
- Mehdi Bazrafshan 2
- Hamed Bazrafshan 5
1 Non-Communicable Disease Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
2 Faculty of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
3 Rajaie Cardiovascular, Medical and Research Center, Tehran, Iran
4 Department of Cardiology Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
5 Cardiovascular research center, Shiraz University of Medical Sciences, Shiraz, Iran
Abstract
BACKGROUND: A structural heart disease or functional electrical abnormalities can cause an electrical storm.
Case presentation: We present a young boy with an electrical storm who had no cardiac risk factors and a positive family history of sudden cardiac death. The stepwise diagnostic approach was ineffective in determining previously known causes as the origin of the electrical storm. However, whole-exome sequencing (with Next Generation Illumina Sequencing) revealed a mutation in the GJB2 (NM_004004:exon2:c.G71A:p.W24X) gene.
CONCLUSION: A mutation in the GJB2 gene, which forms the connexin 26 protein, a crucial component of the myocytes’ intercalated disc of gap junction complex between the myocytes, results in an abnormal electrical cell-by-cell conductance, and, eventually, ventricular storm. General anesthesia was used to control the storm, and intracardiac pacing was fruitful in ceasing the subsequent VT storms.
Keywords
2. Savastano S, Dusi V, Baldi E, Rordorf R, Sanzo A, Camporotondo R, et al. Anatomical-based percutaneous left stellate ganglion block in patients with drug-refractory electrical storm and structural heart disease: a single-centre case series. Europace. 2021 Apr 6;23(4):581-6. https://doi.org/10.1093/europace/euaa319
3. Campuzano O, Sarquella-Brugada G, Brugada R, Brugada J. Genetics of channelopathies associated with sudden cardiac death. Glob Cardiol Sci Pract. 2015 Oct 13;2015(3):39. https://doi.org/10.5339%2Fgcsp.2015.39
4. Moscato S, Cabiati M, Bianchi F, Vaglini F, Morales MA, Burchielli S, et al. (2018) Connexin 26 Expression in Mammalian Cardiomyocytes. Scientific reports 8(1):13975. https://doi.org/10.1038/s41598-018-32405-2
5. Kowlgi GN, Cha YM. Management of ventricular electrical storm: a contemporary appraisal. Europace. 2020 Dec 23;22(12):1768-80. https://doi.org/10.1093/europace/euaa232
6. Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, et al. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. Eur J Hum Genet. 2015 Oct;23(10):1318-27. https://doi.org/10.1038/ejhg. 2014.283
7. Liu X, Bulgakov OV, Darrow KN, Pawlyk B, Adamian M, Liberman MC, et al. Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4413-8. https://doi.org/10.1073/pnas.0610950104
8. Bhattacharya G, Miller C, Kimberling WJ, Jablonski MM, Cosgrove D. Localization and expression of usherin: a novel basement membrane protein defective in people with Usher’s syndrome type IIa. Hear Res. 2002 Jan;163(1-2):1-11. https://doi.org/10.1016/s0378-5955(01)00344-6
9. Noorman M, van der Heyden MA, van Veen TA, Cox MG, Hauer RN, de Bakker JM, et al. Cardiac cell-cell junctions in health and disease: Electrical versus mechanical coupling. J Mol Cell Cardiol. 2009 Jul;47(1):23-31. https://doi.org/10.1016/j.yjmcc.2009.03.016
10. Pfenniger A, Wohlwend A, Kwak BR. Mutations in connexin genes and disease. Eur J Clin Invest. 2011 Jan;41(1):103-16. https://doi.org/10.1111/j.1365-2362.2010.02378.x
11. Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A et al. Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. Genet Med. 2019 Nov;21(11):2442-52. https://doi.org/10.1038/s41436-019-0535-9
12. Yan J, Thomson JK, Zhao W, Wu X, Gao X, DeMarco D, et al. The stress kinase JNK regulates gap junction Cx43 gene expression and promotes atrial fibrillation in the aged heart. J Mol Cell Cardiol. 2018 Jan;114:105-15. https://doi.org/10.1016/j.yjmcc.2017.11.006
13. Randhawa PK, Bali A, Virdi JK, Jaggi AS. Conditioning-induced cardioprotection: Aging as a confounding factor. Korean J Physiol Pharmacol. 2018 Sep;22(5):467-79. https://doi.org/10.4196%2Fkjpp.2018.22.5.467
14. Moscato S, Cabiati M, Bianchi F, Panetta D, Burchielli S, Massimetti G, et al. Heart and liver connexin expression related to the first stage of aging: A study on naturally aged animals. Acta Histochem. 2020 Dec;122(8):151651. https://doi.org/10.1016/j.acthis.2020.151651
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