Center of Cardiac Surgery, Friedrich-Alexander-University Erlangen-Nuremberg, Östliche Stadtmauerstraße 27, 91054, Erlangen, Germany.
Division of Cardiothoracic Surgery, Brigham and Woman's Hospital, Harvard Medical School, Boston, MA, USA.
Virchows Arch. 2023 Feb;482(2):437-443. doi: 10.1007/s00428-022-03366-9. Epub 2022 Jul 28.
Aortic dissection is a life-threatening cardiovascular disease. Hereditary disorders are responsible for a small percentage of cases. Nonetheless, it is important to identify genetic causes, as they are often autosomal dominantly inherited and are of life-saving importance if we can identify persons at risk. Mutations of the ACTA2 gene are the most common cause of non-syndromic familial aortic disease. Exploration of the genetic background in suspected familial cases and determination of the exact etiology are mandatory for management and establishing appropriate follow-up strategies due to the risk of fatal recurrences. Herein, we present a 21-year-old male with a familial acute aortic dissection associated with novel ACTA2 germline variant and discuss the management and surveillance considerations.
主动脉夹层是一种危及生命的心血管疾病。遗传性疾病仅占一小部分病例。然而，确定遗传原因很重要，因为它们通常是常染色体显性遗传的，如果我们能够识别出有风险的人，就具有挽救生命的重要性。ACTA2 基因突变是最常见的非综合征性家族性主动脉疾病的原因。由于致命复发的风险，在疑似家族性病例中探索遗传背景并确定确切病因对于管理和制定适当的随访策略是强制性的。在此，我们介绍了一名 21 岁男性，其家族性急性主动脉夹层与新型 ACTA2 种系变异相关，并讨论了管理和监测注意事项。
