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遗传性血管疾病病例研究:休斯顿德克萨斯大学健康科学中心多学科主动脉会议论文集

Case studies in heritable vascular disease: Proceedings of the UTHealth Houston Multidisciplinary Aortic Conference.

作者信息

Jaiswal Milan, Ribe Lucas, Afifi Rana O, Ikeno Yuki, Cecchi Alana C, Zhao Bihong, Tanaka Akiko, Oderich Gustavo S, Buja L Maximilian, Milewicz Dianna M, Prakash Siddharth K, Estrera Anthony L

机构信息

Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School at UTHealth Houston, Houston, TX.

Division of Cardiology, Department of Internal Medicine, McGovern Medical School at UTHealth Houston, Houston, TX.

出版信息

J Vasc Surg Cases Innov Tech. 2024 Nov 16;11(1):101684. doi: 10.1016/j.jvscit.2024.101684. eCollection 2025 Feb.

Abstract

Heritable thoracic aortic disease is caused by dominantly inherited mutations in more than a dozen genes, including mutations that cause Loeys-Dietz syndrome. McGovern Medical School at UTHealth Houston convenes a regular conference that includes cardiothoracic and vascular surgeons, cardiologists, geneticists, radiologists, and pathologists to formulate multidisciplinary approaches for the management of complex heritable thoracic aortic disease cases. In this report, we highlight the unique management of individuals with distinct presentations of Loeys-Dietz syndrome owing to mutations.

摘要

遗传性胸主动脉疾病由十多个基因中的显性遗传突变引起,包括导致洛伊斯-迪茨综合征的突变。休斯顿德克萨斯大学健康科学中心麦戈文医学院定期召开会议,参会人员包括心胸外科医生、血管外科医生、心脏病专家、遗传学家、放射科医生和病理学家,旨在为复杂遗传性胸主动脉疾病病例制定多学科管理方法。在本报告中,我们重点介绍了因突变导致洛伊斯-迪茨综合征表现各异的个体的独特管理方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af31/11699403/4d2401e0d6df/gr1.jpg

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