Diagnostic approach and management of genetic aortopathies.
Diagnostic approach and management of genetic aortopathies.
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DOI：
10.1177/1358863x19886361
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发表时间：
2020-03
期刊：
影响因子：
--
通讯作者：
Kanthi Y
中科院分区：
文献类型：
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作者：
Bhandari R;Aatre RD;Kanthi Y
根据美国疾病控制中心的数据，2014 年，主动脉瘤是导致近 10,000 人死亡的主要原因，并且可能涉及胸主动脉或腹主动脉的各个部分。胸主动脉瘤和夹层更常见与潜在的遗传病因相关。在过去的几十年里，随着新的基因组测序技术的爆发，许多遗传性主动脉病已经被识别出来。这些为动脉瘤疾病的分子机制提供了重要的见解，但由于目前的共识建议有限，因此在临床实践中提出了挑战。在这篇综述中，我们的目的是解决关键遗传性胸主动脉病的病理生理学、临床表现和治疗注意事项。
Aortic aneurysms were the primary cause of nearly 10,000 deaths in 2014 according to data from the Centers for Disease Control and may involve segments of the thoracic or abdominal aorta. Thoracic aortic aneurysms and dissections are more commonly associated with an underlying genetic etiology. In the past several decades, in parallel with the burst of new genome sequencing technologies, a number of genetic aortopathies have been identified. These have provided important insights into the molecular mechanisms of aneurysmal disease, but pose challenges in clinical practice as there are limited consensus recommendations at this time. In this review, we aim to address the pathophysiology, clinical presentation, and treatment considerations in the key heritable thoracic aortopathies.