Purpose of Review

The aim of this article is to review the current echocardiographic considerations in the diagnosis and monitoring of patients with inherited aortopathies.

Recent Findings

Aortic dilation is a key feature in heritable aortopathies, and dissection is a leading cause of morbidity and mortality. New genetic and histopathologic findings are helpful in better understanding these conditions. Non-invasive imaging modalities, including echocardiogram, computerized tomography, and magnetic resonance imaging, are essential in monitoring these patients, as well as providing new prognostic factors of arterial stiffness that may help with risk stratification in the future.

Summary

Diagnosis of heritable aortopathies should be considered with identification of aortic root dilation, particularly in children and young adults, or when there is a family history of aortic disease. Recent adult consensus guidelines highlight the importance of underlying genotype and phenotypic features when considering prophylactic surgical intervention. There are currently no consensus pediatric guidelines.

中文翻译：

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超声基因组学：遗传性主动脉病的超声心动图

审查目的

本文的目的是回顾当前超声心动图在遗传性主动脉病患者的诊断和监测中的注意事项。

最近的发现

主动脉扩张是遗传性主动脉病的一个关键特征，夹层是发病和死亡的主要原因。新的遗传学和组织病理学发现有助于更好地了解这些病症。非侵入性成像方式，包括超声心动图、计算机断层扫描和磁共振成像，对于监测这些患者至关重要，并提供动脉硬化的新预后因素，可能有助于未来的风险分层。

概括

遗传性主动脉病的诊断应考虑主动脉根部扩张，特别是在儿童和年轻人中，或当有主动脉疾病家族史时。最近的成人共识指南强调了在考虑预防性手术干预时潜在基因型和表型特征的重要性。目前尚无共识的儿科指南。