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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.

DOI:10.1016/j.jvscit.2024.101684
PMID:39760020
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11699403/
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。

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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af31/11699403/4d2401e0d6df/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af31/11699403/591482ed5a61/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af31/11699403/ac6b2a1143e8/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af31/11699403/09b873bc46c8/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af31/11699403/6ec7d3623af1/gr5.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af31/11699403/a468804fae19/gr7.jpg

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本文引用的文献

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2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.2022 ACC/AHA 血管疾病诊断与管理指南：美国心脏协会/美国心脏病学会联合临床实践指南委员会的报告。
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Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease.与遗传性胸主动脉疾病相关的初始主动脉事件的比较风险。
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主动脉瘤
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TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.TGFB2 突变导致家族性胸主动脉瘤和夹层，伴有马凡综合征的轻微全身特征。
Nat Genet. 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348.
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Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.TGFB2 基因功能丧失性突变导致胸主动脉瘤的综合征表现。
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Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.SMAD3 基因突变可导致综合征型主动脉瘤和夹层，伴发病症有早发性骨关节炎。
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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.由TGFBR1或TGFBR2突变引起的心血管、颅面、神经认知和骨骼发育改变综合征。
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