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Dual myosin binding protein C3 and potassium voltage-gated channel subfamily H member 2 co-inherited pathogenic variants in a patient with hypertrophic cardiomyopathy and long QT 2 syndrome: A case report.

作者信息

Alvarez Chikezie K, Smith Emily, Weissler-Snir Adaya

机构信息

Cardiovascular and Electrophysiology Department, Hartford Hospital/University of Connecticut, Hartford, Connecticut.

出版信息

HeartRhythm Case Rep. 2021 Dec 16;8(3):200-204. doi: 10.1016/j.hrcr.2021.12.010. eCollection 2022 Mar.

DOI:10.1016/j.hrcr.2021.12.010
PMID:35492841
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9039531/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed09/9039531/e4a13cb116b5/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed09/9039531/fa3261c3d403/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed09/9039531/de78a3f18906/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed09/9039531/e4a13cb116b5/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed09/9039531/fa3261c3d403/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed09/9039531/de78a3f18906/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed09/9039531/e4a13cb116b5/gr3.jpg

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本文引用的文献

1
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report.肥厚型心肌病和长QT表型家族中TNNI3和KCNQ1的共同遗传变异：一例报告
Mol Genet Metab Rep. 2021 Mar 18;27:100743. doi: 10.1016/j.ymgmr.2021.100743. eCollection 2021 Jun.
2
Comparison of QT Interval Measurement Methods and Correction Formulas in Atrial Fibrillation.心房颤动中 QT 间期测量方法和校正公式的比较。
Am J Cardiol. 2019 Jun 1;123(11):1822-1827. doi: 10.1016/j.amjcard.2019.02.057. Epub 2019 Mar 13.
3
Beta-blocker therapy for long QT syndrome and catecholaminergic polymorphic ventricular tachycardia: Are all beta-blockers equivalent?
用于长QT综合征和儿茶酚胺能多形性室性心动过速的β受体阻滞剂治疗：所有β受体阻滞剂都等效吗？
Heart Rhythm. 2017 Jan;14(1):e41-e44. doi: 10.1016/j.hrthm.2016.09.012. Epub 2016 Sep 19.
4
Prevention of sudden death in hypertrophic cardiomyopathy: bridging the gaps in knowledge.肥厚型心肌病猝死的预防：弥合知识差距。
Eur Heart J. 2017 Jun 7;38(22):1728-1737. doi: 10.1093/eurheartj/ehw268.
5
Dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 genes in a three-generation Chinese family.三代中国家系中 KCNQ1、MYH7、MYLK2 和 TMEM70 基因四联体杂合突变与 LQT1 和 HCM 表型相关。
Europace. 2016 Apr;18(4):602-9. doi: 10.1093/europace/euv043. Epub 2015 Mar 29.
6
Prolongation of the QTc interval predicts appropriate implantable cardioverter-defibrillator therapies in hypertrophic cardiomyopathy.QTc 间期延长可预测肥厚型心肌病中合适的植入式心脏复律除颤器治疗。
JACC Heart Fail. 2013 Apr;1(2):149-55. doi: 10.1016/j.jchf.2013.01.004. Epub 2013 Apr 1.
7
Sudden cardiac death in hypertrophic cardiomyopathy.肥厚型心肌病中的心脏性猝死
Circ Arrhythm Electrophysiol. 2013 Apr;6(2):443-51. doi: 10.1161/CIRCEP.111.962043. Epub 2012 Sep 28.
8
The relation of ventricular arrhythmia electrophysiological characteristics to cardiac phenotype and circadian patterns in hypertrophic cardiomyopathy.肥厚型心肌病中心律失常电生理特征与心脏表型和昼夜节律的关系。
Europace. 2012 May;14(5):724-33. doi: 10.1093/europace/eur362. Epub 2011 Nov 16.
9
Prevalence and clinical correlates of QT prolongation in patients with hypertrophic cardiomyopathy.肥厚型心肌病患者 QT 间期延长的患病率及临床相关因素。
Eur Heart J. 2011 May;32(9):1114-20. doi: 10.1093/eurheartj/ehr021. Epub 2011 Feb 22.
10
Epidemiology of hypertrophic cardiomyopathy-related death: revisited in a large non-referral-based patient population.肥厚型心肌病相关死亡的流行病学：在一个大型非转诊患者群体中的重新审视
Circulation. 2000 Aug 22;102(8):858-64. doi: 10.1161/01.cir.102.8.858.