Abstract：
The aim of this article is to review the current echocardiographic considerations in the diagnosis and monitoring of patients with inherited aortopathies.
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. 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.
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. 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.
摘要：
目的：本文的目的是回顾当前超声心动图在诊断和监测遗传性主动脉病变患者中的注意事项。
结果：主动脉扩张是遗传性主动脉病变的关键特征，解剖是发病率和死亡率的主要原因。新的遗传和组织病理学发现有助于更好地理解这些条件。非侵入性成像模式，包括超声心动图,计算机断层扫描,和磁共振成像，对这些患者的监测至关重要，以及提供新的动脉僵硬度的预后因素，可能有助于未来的风险分层。遗传性主动脉病变的诊断应考虑确定主动脉根部扩张。特别是在儿童和年轻人中，或有主动脉疾病家族史时。最近的成人共识指南强调了考虑预防性手术干预时潜在基因型和表型特征的重要性。目前尚无一致的儿科指南。
结果：主动脉扩张是遗传性主动脉病变的关键特征，解剖是发病率和死亡率的主要原因。新的遗传和组织病理学发现有助于更好地理解这些条件。非侵入性成像模式，包括超声心动图,计算机断层扫描,和磁共振成像，对这些患者的监测至关重要，以及提供新的动脉僵硬度的预后因素，可能有助于未来的风险分层。遗传性主动脉病变的诊断应考虑确定主动脉根部扩张。特别是在儿童和年轻人中，或有主动脉疾病家族史时。最近的成人共识指南强调了考虑预防性手术干预时潜在基因型和表型特征的重要性。目前尚无一致的儿科指南。
