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一例心室颤动后接受皮下植入式心脏复律除颤器治疗的伴有QTc延长的 -相关综合征病例。 （你提供的原文中“-related Syndrome”这里的“-”应该是有具体内容缺失，我是按照字面翻译的）

A Case of -related Syndrome With Prolonged QTc Treated With a Subcutaneous Implantable Cardioverter Defibrillator After Ventricular Fibrillation.

作者信息

Mizuno Yuta, Ichikawa Yasuhiro, Kawai Shun, Wakamiya Takuya, Murakami Hiroaki, Kurosawa Kenji, Ueda Hideaki

机构信息

Department of Cardiovascular Medicine, Kanagawa Children's Medical Center, Yokohama, Japan.

Department of Pediatrics, Yokohama City University Hospital, Yokohama, Japan.

出版信息

CJC Pediatr Congenit Heart Dis. 2022 Oct 7;1(6):270-273. doi: 10.1016/j.cjcpc.2022.10.001. eCollection 2022 Dec.

DOI:10.1016/j.cjcpc.2022.10.001
PMID:37969489
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10642139/
Abstract

NAA10 is an enzyme involved in the N-terminal acetylation of proteins. -related syndrome is caused by a pathogenic variant of on X chromosome, resulting in several phenotypes, including mental retardation, hypotonia, growth retardation, and various external malformations, with varying degrees of severity. With regard to cardiac diseases, hypertrophic cardiomyopathy is a possible complication. Some mutations are also associated with long QT syndrome. Herein, we describe the case of a 7-year-old boy with a novel mutation who experienced cardiopulmonary arrest possibly due to long QT syndrome and was implanted with a subcutaneous implantable cardioverter defibrillator.

摘要

NAA10是一种参与蛋白质N端乙酰化的酶。 -相关综合征由X染色体上的 致病变体引起，导致多种表型，包括智力发育迟缓、肌张力减退、生长发育迟缓以及各种外部畸形，严重程度各不相同。关于心脏疾病，肥厚型心肌病是一种可能的并发症。一些突变也与长QT综合征有关。在此，我们描述了一名7岁男孩的病例，他携带一种新的 突变，可能因长QT综合征而发生心肺骤停，并植入了皮下植入式心律转复除颤器。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd97/10642139/b65dbb08fa0c/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd97/10642139/4b024ee01c0a/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd97/10642139/b65dbb08fa0c/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd97/10642139/4b024ee01c0a/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd97/10642139/b65dbb08fa0c/gr2.jpg

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JAMA Cardiol. 2019 Sep 1;4(9):918-927. doi: 10.1001/jamacardio.2019.2861.
2
A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.一种新型 NAA10 变异体，其乙酰转移酶活性受损，导致发育迟缓、智力残疾和肥厚型心肌病。
Eur J Hum Genet. 2018 Sep;26(9):1294-1305. doi: 10.1038/s41431-018-0136-0. Epub 2018 May 10.
3
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J Am Coll Cardiol. 2013 Apr 9;61(14):1527-35. doi: 10.1016/j.jacc.2013.01.037.
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