心脏性猝死的基因诊断:多学科护理的关键作用

IF 0.5 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Cardiogenetics Pub Date : 2021-05-13 DOI:10.3390/CARDIOGENETICS11020008
S. N. V. D. Crabben, F. L. Komdeur, E. Nossent, R. H. L. Deprez, E. Broekhuizen, C. V. D. Werf, A. Vermeer, H. Niessen, A. Houweling
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引用次数: 0

摘要

猝死,尤其是在年轻时,可能是由潜在的遗传原因引起的。年轻时猝死风险增加的遗传性疾病包括心肌病、心律失常综合征、遗传性胸主动脉瘤和夹层。基因病因的识别可以对高危亲属进行基因检测和心脏病监测。我们医院的三例猝死病例说明了尸检、基因和心脏病筛查在猝死后亲属中的价值。尸检显示,与遗传性心肌病一致的组织学是转诊亲属的原因。此外,在年轻猝死患者的尸检中没有可确定的死亡原因的情况下,心律失常综合征应被视为潜在的遗传原因。
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Genetic Diagnosis in Sudden Cardiac Death: The Crucial Role of Multidisciplinary Care
Sudden death, especially at a young age, may be caused by an underlying genetic cause. Hereditary conditions with an increased risk of sudden death at a young age include cardiomyopathies, arrhythmia syndromes, and hereditary thoracic aortic aneurysms and dissections. The identification of a genetic cause allows for genetic testing and cardiological surveillance in at-risk relatives. Three sudden death cases from our hospital illustrate the value of autopsy, genetic, and cardiological screening in relatives following a sudden death. On autopsy, histology consistent with hereditary cardiomyopathy is a reason for the referral of relatives. In addition, in the absence of an identifiable cause of death by autopsy in young sudden death patients, arrhythmia syndrome should be considered as a potential genetic cause.
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来源期刊
Cardiogenetics
Cardiogenetics CARDIAC & CARDIOVASCULAR SYSTEMS-
自引率
0.00%
发文量
26
审稿时长
11 weeks
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