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NGHIÊN CỨU LÂM SÀNG Issue: Số 94+95 , 2021 BỆNH RỐI LOẠN NHỊP TIM

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Nguyễn Minh Hiệp: Trung tâm Công nghệ bức xạ, Viện nghiên cứu hạt nhân; Lê Minh Trọng: Khoa Sinh học, Trường Đại học Đà Lạt; Nguyễn Văn Phúc: Khoa Sinh học, Trường Đại học Đà Lạt; Phan Sỹ Đức: - Khoa Sau Đại học, Trường Đại học Đà Lạt; Lê Thị Thu Thủy: Khoa Sinh học, Trường Đại học Đà Lạt; Phạm Hồ Thuật Khoa: Khoa Sinh học, Trường Đại học Đà Lạt; Vũ Bảo Quốc -: Khoa Sinh học, Trường Đại học Đà Lạt; Nguyễn Trường An: Khoa Sau Đại học, Trường Đại học Đà Lạt; Bùi Chí Bảo: Đơn vị Sinh học Phân tử Di truyền, Bệnh viện Nhi đồng 2, Thành phố Hồ Chí Minh; Nguyễn Thị Huỳnh Nga: Khoa Sinh học, Trường Đại học Đà Lạt;
Published: August 20, 2026
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Abstract

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References

1.
1. FontaineG,FontaliranF,FrankR.Arrhythmogenic right ventricular cardiomyopathies - clinical forms and main differential diagnoses. Circulation 1998; 97: 1532 - 1535.
2.
2. CorradoD,WichterT,LinkMSetal.Treatment of arrhythmogenic right ventricular cardiomyopathy/ dysplasia: an international task force consensus statement. Circulation 2015; 132: 441 - 453.
3.
3. Campuzano O, Alcalde M, Allegue C et al. Genetics of arrhythmogenic right ventricular cardiomyopathy. J Med Genet 2013; 50: 280 - 289.
4.
4. Fressart V, Duthoit G, Donal E et al. Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. Europace 2010; 12: 861 - 868.
5.
5. Bamshad MJ, Ng SB, Bigham AW et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011; 12: 745 - 755.
6.
6. Parikh VN, Ashley EA. Next-generation sequencing in cardiovascular disease: present clinical applications and the horizon of precision medicine. Circulation 2017; 135: 406 - 409.
7.
7. GandjbakhchE,RedheuilA,PoussetF,etal.Clinical diagnosis, imaging and genetics of arrhythmogenic right ventricular cardiomyopathy/dysplasia: JACC State-of-the-Art Review. J Am Coll Cardiol 2018; 72: 784 - 804.
8.
8. Teer JK, Mullikin JC. Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet 2010; 19: R145 - 151.
9.
9. LinthorstGE,HollakCEM.Whole exome sequencing and whole genome sequencing in undiagnosed disease: of value for certain patient populations. Ned Tijdschr Geneeskd 2019; 163: D3711.
10.
10. SunY,ManJ,WanYetal.Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study. Scientific Reports 2018; 8: 11646.
11.
11. BarbitoffYA,PolevDE,GlotovASetal.Systematic dissection of biases in whole-exome and whole- genome sequencing reveals major determinants of coding sequence coverage. Sci Rep 2020; 10: 2057.
12.
12. Gambardella J, Trimarco B, Iaccarino G et al. New insights in cardiac calcium handling and excitation-contraction coupling. Adv Exp Med Biol 2018; 1067: 373 - 385.
13.
13. Santulli G, Nakashima R, Yuan Q, Marks AR. Intracellular calcium release channels: an update. J Physiol 2017; 595: 3041 - 3051.
14.
14. OgawaY.Role of ryanodine receptors. Crit Rev Biochem Mol Biol 1994; 29: 229 - 274.
15.
BassoC,CorradoD,BauceBetal.Arrhythmogenic right ventricular cardiomyopathy. Circ Arrhythm Electrophysiol 2012; 5: 1233 - 1246.
16.
15. Tiso N, Stephan DA, Nava A, Bagattin A et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001; 10: 189 - 194.
17.
16. YanoM,YamamotoT,MatsuzakiM.Role of ryanodine receptor as a Ca2+ regulatory center in normal and failing hearts. J Cardiol 2009; 53: 1 - 7.
18.
17. Sorensen AB, Sondergaard MT, Overgaard MT. Calmodulin in a heartbeat. FEBS J 2013; 280: 5511 - 5532.
19.
Tian X, Tang Y, Liu Y et al. Calmodulin modulates the termination threshold for cardiac ryanodine receptor-mediated Ca2+ release. Biochem J 2013; 455: 367 - 375.
20.
18. FruenBR,BlackDJ,BloomquistRAetal.Regulation of the RYR1 and RYR2 Ca2+ release channel isoforms by Ca2+ insensitive mutants of calmodulin. Biochemistry 2003; 42: 2740 - 2747.
21.
19. Ono M, Yano M, Hino A et al. Dissociation of calmodulin from cardiac ryanodine receptor causes aberrant Ca (2+) release in heart failure. Cardiovasc Res 2010; 87: 609 - 617.
22.
20. Oda T, Yang Y, Nitu FR, et al. Cardiac myocyte Z-line calmodulin is mainly RyR2-bound and reduction is arrhythmogenic and occurs in heart failure. Circ Res 2014; 114: 295 - 306.
23.
21. SondergaardMT,TianX,LiuYetal.Arrhythmogenic calmodulin mutations affect the activation and termination of cardiac ryanodine receptor-mediated Ca2+ release. J Biol Chem 2015; 290: 26151 - 26162.
24.
22. SheehanKA,BlatterLA.Regulation of junctional and non-junctional sarcoplasmic reticulum calcium release 23. Hino A, Yano M, Kato T et al. Enhanced binding of calmodulin to the ryanodine receptor corrects contractile dysfunction in failing hearts. Cardiovasc Res 2012; 96: 433 - 443.
25.
24. Jiang D, Xiao B, Zhang L et al. Enhanced basal activity of a cardiac Ca2+ release channel (ryanodine receptor) mutant associated with ventricular tachycardia and sudden death. Circ Res 2002; 91: 218 - 225.
26.
25. WalweelK,HurtadoNG,RebbeckNTetal.Calmodulin inhibition of human RyR2 channels requires phosphorylation of RyR2-S2808 or RyR2-S2814. J Mol Cell Cardiol 2019; 130: 96 - 106.
27.
26. EhdaieA,ShehataM,WangXetal.Ryanodine receptor mutation in arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical implications. J Mol Biomark Diagn 2017; 8: S2.
28.
27. Neto JE, Tonet J, Frank R et al. Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) - What we have learned after 40 years of the diagnosis of this clinical entity. Arq Bras Cardiol 2019; 112: 91 - 103.
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Section NGHIÊN CỨU LÂM SÀNG
Category BỆNH RỐI LOẠN NHỊP TIM
Pages 130-137
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