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本文引用的文献

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The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.与PKP2基因c.1211dup变异相关的致心律失常性心肌病表型。
Neth Heart J. 2023 Aug;31(7-8):315-323. doi: 10.1007/s12471-023-01791-2. Epub 2023 Jul 28.
2
Outcomes in Dutch DPP6 risk haplotype for familial idiopathic ventricular fibrillation: a focused update.荷兰DPP6风险单倍型在家族性特发性心室颤动中的结局:重点更新
Neth Heart J. 2023 Aug;31(7-8):309-314. doi: 10.1007/s12471-023-01792-1. Epub 2023 Jul 27.
3
Should we offer preventive treatment to all carriers of PLN p.(Arg14del) variant? : Pro: Provide pre-emptive treatment to asymptomatic carriers.我们应该为所有携带PLN p.(Arg14del)变异的携带者提供预防性治疗吗?正方观点:对无症状携带者进行预防性治疗。
Neth Heart J. 2023 Aug;31(7-8):287-288. doi: 10.1007/s12471-023-01793-0. Epub 2023 Jul 26.
4
Should we offer preventive treatment to all carriers of PLN p.(Arg14del) variant? : Con: Do no harm to asymptomatic carriers.我们应该为所有携带PLN p.(Arg14del)变异的携带者提供预防性治疗吗?反对意见:不要对无症状携带者造成伤害。
Neth Heart J. 2023 Aug;31(7-8):289-290. doi: 10.1007/s12471-023-01794-z. Epub 2023 Jul 25.
5
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.MYH7基因第1712位密码子由精氨酸突变为谷氨酰胺(p.(Arg1712Gln))是一种致病性始祖变异,可导致肥厚型心肌病,总体发病相对较晚。
Neth Heart J. 2023 Aug;31(7-8):300-307. doi: 10.1007/s12471-023-01798-9. Epub 2023 Jul 24.
6
SCN5A-1795insD founder variant: a unique Dutch experience spanning 7 decades.SCN5A-1795insD始创者变异:跨越70年的独特荷兰经历。
Neth Heart J. 2023 Aug;31(7-8):263-271. doi: 10.1007/s12471-023-01799-8. Epub 2023 Jul 20.
7
Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy.运动不影响PLN基因第14位密码子精氨酸缺失型心肌病的表型发展。
Neth Heart J. 2023 Aug;31(7-8):291-299. doi: 10.1007/s12471-023-01800-4. Epub 2023 Jul 20.
8
Current gaps in knowledge in inherited arrhythmia syndromes.遗传性心律失常综合征当前的知识空白。
Neth Heart J. 2023 Aug;31(7-8):272-281. doi: 10.1007/s12471-023-01797-w. Epub 2023 Jul 6.
9
Desmoplakin cardiomyopathy-an inherited cardiomyopathy presenting with recurrent episodes of acute myocardial injury.桥粒斑蛋白心肌病——一种表现为反复急性心肌损伤发作的遗传性心肌病。
Neth Heart J. 2023 Aug;31(7-8):282-286. doi: 10.1007/s12471-022-01735-2. Epub 2022 Nov 26.
10
Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation.单倍型共享分析表明,7号染色体长臂36区携带二肽基肽酶6(DPP6)与家族性特发性室颤有关。
Am J Hum Genet. 2009 Apr;84(4):468-76. doi: 10.1016/j.ajhg.2009.02.009. Epub 2009 Mar 12.

"When you see a fork in the road, take it"-Yogi Berra.

作者信息

Pinto Yigal M, Hemels Martin E W

机构信息

Department of Experimental Cardiology, Amsterdam University Medical Centres, location Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

Department of Cardiology, Rijnstate Hospital, Arnhem, The Netherlands.

出版信息

Neth Heart J. 2023 Aug;31(7-8):261-262. doi: 10.1007/s12471-023-01801-3. Epub 2023 Jul 24.

DOI:10.1007/s12471-023-01801-3
PMID:37488329
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10400480/
Abstract
摘要