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本文引用的文献

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Prader-Willi Syndrome: A spectrum of anatomical and clinical features.普拉德-威利综合征:一系列解剖学和临床特征。
Clin Anat. 2016 Jul;29(5):590-605. doi: 10.1002/ca.22686. Epub 2016 Jan 29.
2
'A one-sided affair': unilateral pulmonary oedema and the role of cardiac MRI in diagnosing premature coronary artery disease in a patient with Prader-Willi syndrome.“单方面的情况”:单侧肺水肿以及心脏磁共振成像在诊断普拉德-威利综合征患者冠状动脉疾病中的作用
BMJ Case Rep. 2013 May 22;2013:bcr2013008692. doi: 10.1136/bcr-2013-008692.
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Prader-Willi syndrome.普拉德-威利综合征。
Genet Med. 2012 Jan;14(1):10-26. doi: 10.1038/gim.0b013e31822bead0. Epub 2011 Sep 26.
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Growth hormone treatment in adults with Prader-Willi syndrome: the Scandinavian study.成人普拉德-威利综合征患者的生长激素治疗:斯堪的纳维亚研究。
Endocrine. 2012 Apr;41(2):191-9. doi: 10.1007/s12020-011-9560-4. Epub 2011 Nov 12.
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Recommendations for the diagnosis and management of Prader-Willi syndrome.普拉德-威利综合征的诊断与管理建议。
J Clin Endocrinol Metab. 2008 Nov;93(11):4183-97. doi: 10.1210/jc.2008-0649. Epub 2008 Aug 12.
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Characteristics of cardiac and vascular structure and function in Prader-Willi syndrome.普拉德-威利综合征中心脏和血管结构及功能的特征
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The impact of growth hormone/insulin-like growth factor-I axis and nocturnal breathing disorders on cardiovascular features of adult patients with Prader-Willi syndrome.生长激素/胰岛素样生长因子-I轴及夜间呼吸障碍对普拉德-威利综合征成年患者心血管特征的影响
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8
Prader-Willi syndrome: causes of death in an international series of 27 cases.普拉德-威利综合征:27例国际病例系列的死亡原因
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Death in adults with Prader-Willi syndrome may be correlated with maternal uniparental disomy.普拉德-威利综合征成年患者的死亡可能与母源单亲二倍体相关。
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普拉德-威利综合征:冠状动脉疾病过早发生的温床?

Prader-Willi syndrome: a nest for premature coronary artery disease?

作者信息

Brás Diogo Rodrigues, Semedo Pedro, Piçarra Bruno Cordeiro, Fernandes Renato

机构信息

Department of Cardiology, Hospital do Espirito Santo EPE, Evora, Portugal.

Digital Angiography and Interventional Cardiology Unit, Hospital do Espirito Santo EPE, Evora, Portugal.

出版信息

BMJ Case Rep. 2018 Feb 7;2018:bcr-2017-222828. doi: 10.1136/bcr-2017-222828.

DOI:10.1136/bcr-2017-222828
PMID:29437709
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5836641/
Abstract

Individuals affected by Prader-Willi syndrome (PWS) may show increased risk for coronary artery disease (CAD), which probably relates, at least, with high burden of cardiovascular risk factors.A 27-year-old man with PWS, obesity, hypertension, diabetes mellitus and dyslipidaemia attended the emergency department with complaints of flu-like condition and chest pain. The ECG revealed a mild ST-segment elevation in inferior leads, followed by positive myocardial necrosis biomarkers. Attending to the high cardiovascular risk profile, ST-segment elevation in inferior territory and wall motion abnormalities, a coronary angiogram was performed. The latter showed a three-vessel CAD, 60% stenosis in midanterior descending artery, total occlusion (100%) of the obtuse marginal artery and 99% stenosis with high thrombi burden in the proximal right coronary artery.The present case report emphasises the plausibility of premature CAD in patients with PWS, a possible underdiagnosed feature of this condition.

摘要

患有普拉德-威利综合征(PWS)的个体可能显示出患冠状动脉疾病(CAD)的风险增加,这可能至少与心血管危险因素的高负担有关。一名患有PWS、肥胖、高血压、糖尿病和血脂异常的27岁男性因类似流感症状和胸痛前往急诊科就诊。心电图显示下壁导联轻度ST段抬高,随后心肌坏死生物标志物呈阳性。鉴于其高心血管风险状况、下壁ST段抬高和室壁运动异常,进行了冠状动脉造影。结果显示三支血管CAD,前降支中段狭窄60%,钝缘支完全闭塞(100%),右冠状动脉近端狭窄99%且血栓负荷高。本病例报告强调了PWS患者过早发生CAD的可能性,这可能是该疾病一个可能未被充分诊断的特征。