Spaziani Gaia, Surace Francesca Chiara, Girolami Francesca, Bianco Francesco, Bucciarelli Valentina, Bonanni Francesca, Bennati Elena, Arcieri Luigi, Favilli Silvia
Pediatric and Transition Cardiology, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.
Cardiovascular Sciences Department, AOU "Ospedali Riuniti", 60126 Ancona, Italy.
Diagnostics (Basel). 2024 Jan 4;14(1):112. doi: 10.3390/diagnostics14010112.
Advances in both imaging techniques and genetics have led to the recognition of a wide variety of aortic anomalies that can be grouped under the term 'hereditary thoracic aortic diseases'. The present review aims to summarize this very heterogeneous population's clinical, genetic, and imaging characteristics and to discuss the implications of the diagnosis for clinical counselling (on sports activity or pregnancy), medical therapies and surgical management.
成像技术和遗传学的进展已使人们认识到多种主动脉异常,这些异常可归类于“遗传性胸主动脉疾病”这一术语之下。本综述旨在总结这一非常异质性群体的临床、遗传和影像学特征,并讨论诊断对临床咨询(关于体育活动或妊娠)、药物治疗和手术管理的意义。