患有三联征和扩张型心肌病患者的心脏骤停。
Cardiac arrest in a patient with trichorhinophalangeal syndrome and dilated cardiomyopathy.
机构信息
Cardiology, Salisbury Hospital NHS Foundation Trust, Salisbury, Wiltshire, UK
Cardiology, Salisbury Hospital NHS Foundation Trust, Salisbury, Wiltshire, UK.
出版信息
BMJ Case Rep. 2021 Feb 4;14(2):e237604. doi: 10.1136/bcr-2020-237604.
Abstract
A 44-year-old woman with known trichorhinophalangeal syndrome presented with an unheralded out of hospital cardiac arrest. Transthoracic echocardiography showed severe left ventricular systolic dysfunction with an ejection fraction <25% and cardiac MRI confirmed a diagnosis of congenital non-ischaemic dilated cardiomyopathy. The case highlights a very rare syndrome, it is previously unknown association with dilated cardiomyopathy and the possible benefit of cardiac screening for patients with known trichorhinophalangeal syndrome.
摘要
一位 44 岁患有已知的三联征的女性患者在院外发生了无明显诱因的心脏骤停。经胸超声心动图显示严重的左心室收缩功能障碍，射血分数<25%，心脏 MRI 证实了先天性非缺血性扩张型心肌病的诊断。该病例突出了一种非常罕见的综合征，以前未知的与扩张型心肌病的关联，以及对已知三联征患者进行心脏筛查的可能益处。
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