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Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia.

作者信息

Rudaks Laura I, Andersen Chad, Khong T Y, Kelly Andrew, Fietz Michael, Barnett Christopher P

机构信息

SA Clinical Genetics Service, Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia.

出版信息

Pediatr Cardiol. 2012 Jun;33(5):827-30. doi: 10.1007/s00246-012-0214-y. Epub 2012 Feb 29.

DOI:10.1007/s00246-012-0214-y
PMID:22374380
Abstract

Hypertrophic cardiomyopathy (HCM) is a rare presenting feature of congenital disorder of glycosylation type Ia (CDG-Ia). We report two female siblings with CDG-Ia and cardiomyopathy. Patient no. 1 died at 12 days of age from cardiac rupture and tamponade, which has not previously been reported in CDG-Ia. The second patient died at 2 months of age from HCM. The severe cardiac manifestations seen in our patients emphasize the importance of early cardiac assessment in all patients with CDG-Ia.

摘要

相似文献

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Pediatr Cardiol. 2012 Jun;33(5):827-30. doi: 10.1007/s00246-012-0214-y. Epub 2012 Feb 29.
2
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[Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?].先天性糖基化代谢异常Ia型（CDG Ia）——诊断不足的疾病？
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本文引用的文献

1
Congenital disorders of glycosylation.先天性糖基化障碍。
Ann N Y Acad Sci. 2010 Dec;1214:190-8. doi: 10.1111/j.1749-6632.2010.05840.x.
2
Hypertrophic cardiomyopathy.肥厚型心肌病
Pacing Clin Electrophysiol. 2009 Jul;32 Suppl 2:S23-31. doi: 10.1111/j.1540-8159.2009.02381.x.
3
Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology.Ia型先天性糖基化障碍：1例患有小脑病变的新生儿的临床病理报告
磷酸甘露糖变位酶2缺乏症患者的血管环异常：病例报告及文献复习
JIMD Rep. 2020 Aug 19;56(1):27-33. doi: 10.1002/jmd2.12160. eCollection 2020 Nov.
4
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.因PMM2突变导致的先天性糖基化障碍（CDG）患者的低血糖症：对高胰岛素血症患者的随访
JIMD Rep. 2019 Nov 25;51(1):76-81. doi: 10.1002/jmd2.12085. eCollection 2020 Jan.
5
Recognizable phenotypes in CDG.可识别的 CDG 表型。
J Inherit Metab Dis. 2018 May;41(3):541-553. doi: 10.1007/s10545-018-0156-5. Epub 2018 Apr 13.
6
Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.先天性糖基化障碍（CDG）的心脏并发症：文献系统评价。
J Inherit Metab Dis. 2017 Sep;40(5):657-672. doi: 10.1007/s10545-017-0066-y. Epub 2017 Jul 19.
7
A case of congenital disorder of glycosylation ia presented with recurrent pericardial effusion.一名先天性糖基化障碍患者出现复发性心包积液。
Iran J Pediatr. 2014 Oct;24(5):652-4. Epub 2014 Jul 19.
8
Infant with cardiomyopathy: When to suspect inborn errors of metabolism?患有心肌病的婴儿：何时怀疑存在先天性代谢缺陷？
World J Cardiol. 2014 Nov 26;6(11):1149-55. doi: 10.4330/wjc.v6.i11.1149.
Acta Neuropathol. 2005 Apr;109(4):433-42. doi: 10.1007/s00401-004-0975-3. Epub 2005 Feb 16.
4
Cardiomyopathy in congenital disorders of glycosylation.糖基化先天性疾病中的心肌病。
Cardiol Young. 2003 Aug;13(4):345-51.
5
Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia.
Eur J Pediatr. 2002 Oct;161(10):524-7. doi: 10.1007/s00431-002-1029-2. Epub 2002 Aug 22.
6
Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.英国1型碳水化合物缺乏糖蛋白综合征患者的基因型和表型。
J Inherit Metab Dis. 2000 Mar;23(2):162-74. doi: 10.1023/a:1005669900330.
7
Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).IA型碳水化合物缺乏糖蛋白综合征（磷酸甘露糖变位酶缺乏症）。
Biochim Biophys Acta. 1999 Oct 8;1455(2-3):155-65. doi: 10.1016/s0925-4439(99)00073-3.