Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Am J Med Genet A. 2021 Nov;185(11):3340-3349. doi: 10.1002/ajmg.a.62461. Epub 2021 Aug 24.
Tremendous progress has been made in understanding the etiology, pathogenesis, and treatment of inherited vascular connective tissue disorders. While new insights regarding disease etiology and pathogenesis have informed patient counseling and care, there are numerous obstacles that need to be overcome in order to achieve the full promise of precision medicine. In this review, these issues will be discussed in the context of Marfan syndrome and Loeys-Dietz syndrome, with additional emphasis on the pioneering contributions made by Victor McKusick.
在理解遗传性血管结缔组织疾病的病因、发病机制和治疗方面已经取得了巨大的进展。尽管关于疾病病因和发病机制的新见解为患者咨询和护理提供了信息，但为了充分实现精准医学的承诺，仍有许多障碍需要克服。在这篇综述中，将在马凡综合征和洛伊茨-迪茨综合征的背景下讨论这些问题，并特别强调维克托·麦克库斯克的开创性贡献。
