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Abstract：
Hereditary aortic aneurysms and dissections, such as Marfan syndrome, differ in that they occur in younger patients without generally recognized risk factors, have a predilection for the thoracic rather than the abdominal aorta, and are at risk for dissection even at smaller aortic diameters. Early diagnosis, careful follow-up, and early intervention, such as medication to reduce aortic root growth and prophylactic aortic replacement to prevent fatal aortic dissection, are essential for a better prognosis. Molecular genetic testing is extremely useful for early diagnosis. However, in actual clinical practice, the question often arises as to when and to which patient genetic testing should be offered since the outcome of the tests can have important implications for the patient and the relatives. Pre- and post-test genetic counseling is essential for early intervention to be effective. (This article is a secondary translation of Jpn J Vasc Surg 2023; 32: 261-267.).
摘要：
遗传性主动脉瘤和夹层，比如马凡氏综合症,不同之处在于它们发生在年轻患者中，没有公认的风险因素，对胸部而不是腹主动脉有偏爱，即使在较小的主动脉直径下也有夹层的风险。早期诊断,仔细跟进,早期干预,例如减少主动脉根部生长的药物和预防性主动脉置换以防止致命的主动脉夹层，对更好的预后至关重要。分子遗传学检测对早期诊断非常有用。然而,在实际的临床实践中，经常会出现的问题是，何时以及向哪些患者提供基因检测，因为检测的结果可能对患者和亲属产生重要影响。测试前和测试后的遗传咨询对于早期干预有效至关重要。（本文是JpnJVascSurg2023的二次翻译；32：261-267。).
