-
摘要: 房室结折返性心动过速(AVNRT)是临床中最常见的一种阵发性室上性心动过速,其发病机制至今仍未阐明。既往认为AVNRT与先天性心脏传导通路发育异常有关。近年来,随着家族性AVNRT不断报道,提示该病与遗传因素有关,新近的基因测序结果显示离子通道相关基因突变可能与其发生有关。本文将对AVNRT的遗传学研究进行综述。
-
关键词:
- 房室结折返性心动过速 /
- 遗传 /
- 候选致病基因/通路
Abstract: Atrioventricular nodal reentrant tachycardia (AVNRT) is the most common kind of paroxysmal supraventricular tachycardia (PSVT), but its underlying mechanism is not clear. It was considered as congenital cardiac conduction pathway in the past years. Recently, familial AVNRT and candidate pathogenic genes/pathways indicate association with genetic factors. Therefore, the aim of this study is to summarize the genetic research of AVNRT. -
[1] Kurian T, Ambrosi C, Hucker W, et al. Anatomy and electrophysiology of the human AV node[J]. Pacing Clin Electrophysiol, 2010, 33(6): 754-762. doi: 10.1111/j.1540-8159.2010.02699.x
[2] Pandozi C, Lavalle C, Bongiorni MG, et al. High-density mapping of Koch's triangle during sinus rhythm and typical AV nodal reentrant tachycardia: new insight[J]. J Interv Card Electrophysiol, 2021, 61(3): 487-497. doi: 10.1007/s10840-020-00841-8
[3] Bogun F, Daoud E, Goyal R, et al. Comparison of atrial-His intervals in patients with and without dual atrioventricular nodal physiology and atrioventricular nodal reentrant tachycardia[J]. Am Heart J, 1996, 132(4): 758-764. doi: 10.1016/S0002-8703(96)90307-5
[4] Siebels H, Sohns C, Nürnberg JH, et al. Value of an old school approach: safety and long-term success of radiofrequency current catheter ablation of atrioventricular nodal reentrant tachycardia in children and young adolescents[J]. J Interv Card Electrophysiol, 2018, 53(2): 267-277. doi: 10.1007/s10840-018-0367-6
[5] Hunt MM. Familial occurrence of accessory atrioventricular pathways(preexcitation syndrome)[J]. Ann Emerg Med, 1987, 16(11): 1307-1307.
[6] Virani SS, Alonso A, Benjamin EJ, et al. Heart Disease and Stroke Statistics-2020 Update: A Report From the American Heart Association[J]. Circulation, 2020, 141(9): e139-e596.
[7] Michowitz Y, Anis-Heusler A, Reinstein E, et al. Familial Occurrence of Atrioventricular Nodal Reentrant Tachycardia[J]. Circ Arrhythm Electrophysiol, 2017, 10(2): e004680.
[8] Hayes JJ, Sharma PP, Smith PN, et al. Familial atrioventricular nodal reentry tachycardia[J]. Pacing Clin Electrophysiol, 2004, 27(1): 73-76. doi: 10.1111/j.1540-8159.2004.00388.x
[9] Frisch DR, Kwaku KF, Allocco DJ, et al. Atrioventricular nodal reentrant tachycardia in two siblings with Wolfram syndrome[J]. J Cardiovasc Electrophysiol, 2006, 17(9): 1029-1031. doi: 10.1111/j.1540-8167.2006.00522.x
[10] Namgung J, Kwak JJ, Choe H, et al. Familial occurrence of atrioventricular nodal reentrant tachycardia in a mother and her son[J]. Korean Circ J, 2012, 42(10): 718-721. doi: 10.4070/kcj.2012.42.10.718
[11] Barake W, Caldwell J, Baranchuk A. Atrioventricular Nodal Re-entry Tachycardia in Identical Twins: A Case Report and Literature Review[J]. Indian Pacing Electrophysiol J, 2013, 13(1): 45-51. doi: 10.1016/S0972-6292(16)30589-7
[12] Stec S, Deutsch K, Zienciuk-Krajka A. The world's largest family with familial atrio-ventricular nodal reentry tachycardia[J]. Kardiol Pol, 2015, 73(12): 1339. doi: 10.5603/KP.2015.0249
[13] Chen XP, Yan C, Luo R, et al. Clinical report of 8 families with atrioventricular nodal reentrant tachycardia from China[J]. Kardiol Pol, 2021, 79(2): 185-187. doi: 10.33963/KP.15739
[14] Andreasen L, Ahlberg G, Tang C, et al. Next-generation sequencing of AV nodal reentrant tachycardia patients identifies broad spectrum of variants in ion channel genes[J]. Eur J Hum Genet, 2018, 26(5): 660-668. doi: 10.1038/s41431-017-0092-0
[15] Luo R, Zheng C, Yang H, et al. Identification of potential candidate genes and pathways in atrioventricular nodal reentry tachycardia by whole-exome sequencing[J]. Clin Transl Med, 2020, 10(1): 238-257. doi: 10.1002/ctm2.25
[16] Liu J, Noble PJ, Xiao G, et al. Role of pacemaking current in cardiac nodes: insights from a comparative study of sinoatrial node and atrioventricular node[J]. Prog Biophys Mol Biol, 2008, 96(1-3): 294-304. doi: 10.1016/j.pbiomolbio.2007.07.009
[17] Eisner DA, Caldwell JL, Kistamás K, et al. Calcium and Excitation-Contraction Coupling in the Heart[J]. Circ Res, 2017, 121(2): 181-195. doi: 10.1161/CIRCRESAHA.117.310230
[18] Zhang H, Holden AV, Noble D, et al. Analysis of the chronotropic effect of acetylcholine on sinoatrial node cells[J]. J Cardiovasc Electrophysiol, 2002, 13(5): 465-474. doi: 10.1046/j.1540-8167.2002.00465.x
[19] Lee TY, Hogarth K, Szabo E, et al. Sex-Specific Arrhythmias Caused by Cardiac Sodium Channel Nav 1.5 Mutation Alters Cardiomyocyte Metabolism[J]. FASEB J, 2022, 36 Suppl 1.
[20] Vanninen S, Nikus K, Aalto-Setälä K. Electrocardiogram changes and atrial arrhythmias in individuals carrying sodium channel SCN5A D1275N mutation[J]. Ann Med, 2017, 49(6): 496-503. doi: 10.1080/07853890.2017.1307515
[21] Hasdemir C, Payzin S, Kocabas U, et al. High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia[J]. Heart Rhythm, 2015, 12(7): 1584-1594.
[22] Frasier CR, Zhang H, Offord J, et al. Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes[J]. Stem Cell Reports, 2018, 11(3): 626-634. doi: 10.1016/j.stemcr.2018.07.012
[23] Daverio M, Ciccone O, Boniver C, et al. Supraventricular Tachycardia During Status Epilepticus in Dravet Syndrome: A Link Between Brain and Heart?[J]. Pediatr Neurol, 2016, 56: 69-71. doi: 10.1016/j.pediatrneurol.2015.12.003
[24] Airriess C, Mcmahon B. Short-term emersion affects cardiac function and regional haemolymph distribution in the crab Cancer magister[J]. J Exp Biol, 1996, 199(Pt 3): 569-578.
[25] Light PE, Wallace CH, Dyck JR. Constitutively active adenosine monophosphate-activated protein kinase regulates voltage-gated sodium channels in ventricular myocytes[J]. Circulation, 2003, 107(15): 1962-1965.
[26] Hailati J, Yang YC, Zhang L, et al. Association between-44G/A and +71A/G polymorphisms in the connexin 40 gene and atrial fibrillation in Uyghur and Han populations in Xinjiang, China[J]. Genet Mol Res, 2016, 15(4).
[27] Landstrom AP, Dobrev D, Wehrens X. Calcium Signaling and Cardiac Arrhythmias[J]. Circ Res, 2017, 120(12): 1969-1993.
[28] Weiss JN, Garfinkel A, Karagueuzian HS, et al. Perspective: a dynamics-based classification of ventricular arrhythmias[J]. J Mol Cell Cardiol, 2015, 82: 136-152.
[29] Günther A, Baumann A. Distinct expression patterns of HCN channels in HL-1 cardiomyocytes[J]. BMC Cell Biol, 2015, 16: 18.
[30] 李小平, 颜超, 罗蓉, 等. 房室结折返性心动过速3个家系的报道[J]. 临床心血管病杂志, 2020, 36(5): 471-475. https://www.cnki.com.cn/Article/CJFDTOTAL-LCXB202005016.htm
计量
- 文章访问数: 1641
- PDF下载数: 1044
- 施引文献: 0