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婴儿早期严重扩张型心肌病1例罕见病例

A Rare Case of Severe Dilated Cardiomyopathy in Early Infancy.

作者信息

Schwendt Meike, Kroll Johannes, Fleck Thilo, Stiller Brigitte

机构信息

Department of Congenital Heart Disease and Paediatric Cardiology, Freiburg University Hospital, Freiburg, Baden-Württemberg, Germany.

Department of Cardio-Thoracic Surgery at University Heart Centre Freiburg, Freiburg University Hospital, Bad Krozingen, Medical Centre, University of Freiburg, Faculty of Medicine, Freiburg, Baden-Württemberg, Germany.

出版信息

Thorac Cardiovasc Surg Rep. 2021 Jan;10(1):e12-e14. doi: 10.1055/s-0040-1721038. Epub 2021 Jan 20.

DOI:10.1055/s-0040-1721038
PMID:33489715
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7817335/
Abstract

We report the case of a 3-month-old girl presenting with end-stage dilated cardiomyopathy and therapy-resistant cardiogenic shock. A left ventricular assist device (LVAD) Berlin Heart EXCOR was implanted, her organs recovered, and she was listed for heart transplantation. Two months later, while still on the LVAD, she was diagnosed with the rare genetic Alström syndrome. Weaning was no option, and she underwent successful heart transplantation at the age of 9 months. The follow-up 15 months later revealed an uneventful transplant course in a child with Alström syndrome.

摘要

我们报告了一名3个月大女童的病例，她患有终末期扩张型心肌病和难治性心源性休克。植入了左心室辅助装置（LVAD）柏林心脏EXCOR，她的器官功能恢复，随后被列入心脏移植名单。两个月后，仍在使用LVAD时，她被诊断出患有一种罕见的遗传性阿尔斯特伦综合征。无法撤掉LVAD，她在9个月大时成功接受了心脏移植。15个月后的随访显示，患有阿尔斯特伦综合征的这名儿童移植过程顺利。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/732b/7817335/745b0fc86f0e/10-1055-s-0040-1721038-i200374crc-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/732b/7817335/baa4000d0a5f/10-1055-s-0040-1721038-i200374crc-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/732b/7817335/745b0fc86f0e/10-1055-s-0040-1721038-i200374crc-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/732b/7817335/baa4000d0a5f/10-1055-s-0040-1721038-i200374crc-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/732b/7817335/745b0fc86f0e/10-1055-s-0040-1721038-i200374crc-2.jpg

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引用本文的文献

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本文引用的文献

1
ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.ALMS1 和 Alström 综合征：一种代谢、神经感觉和心脏缺陷的隐性形式。
J Mol Med (Berl). 2019 Jan;97(1):1-17. doi: 10.1007/s00109-018-1714-x. Epub 2018 Nov 12.
2
Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.阿尔斯特伦综合征中心肌病的特征：38例患者的前瞻性单中心数据。
Mol Genet Metab. 2017 Aug;121(4):336-343. doi: 10.1016/j.ymgme.2017.05.017. Epub 2017 May 30.
3
Variable clinical course of identical twin neonates with Alström syndrome presenting coincidentally with dilated cardiomyopathy.
患有阿尔斯特伦综合征的同卵双胞胎新生儿出现扩张型心肌病，临床病程各异。
Am J Med Genet A. 2017 Jun;173(6):1687-1689. doi: 10.1002/ajmg.a.38200. Epub 2017 Apr 13.
4
Alström syndrome: current perspectives.阿尔斯特伦综合征：当前观点
Appl Clin Genet. 2015 Jul 21;8:171-9. doi: 10.2147/TACG.S56612. eCollection 2015.
5
Alström Syndrome: Mutation Spectrum of ALMS1.阿尔斯特伦综合征：ALMS1的突变谱
Hum Mutat. 2015 Jul;36(7):660-8. doi: 10.1002/humu.22796. Epub 2015 May 18.
6
Mutations in Alström protein impair terminal differentiation of cardiomyocytes.阿尔斯特伦蛋白的突变会损害心肌细胞的终末分化。
Nat Commun. 2014 Mar 4;5:3416. doi: 10.1038/ncomms4416.
7
Alström syndrome: genetics and clinical overview.阿尔斯特伦综合征：遗传学和临床概述。
Curr Genomics. 2011 May;12(3):225-35. doi: 10.2174/138920211795677912.
8
Alström syndrome.阿尔斯特伦综合征。
Eur J Hum Genet. 2007 Dec;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933. Epub 2007 Oct 17.