Eisenberg Scott D, Thompson Kim M, Naeem Muhammad, Weintraub Neal L, Leshnower Bradley G, Abunimer Ayman N, Winkler Michael A
Department of Internal Medicine, Emory University School of Medicine, Atlanta, Georgia, USA.
Department of Family and Preventive Medicine, Emory University School of Medicine, Atlanta, Georgia, USA.
JACC Case Rep. 2024 Sep 4;29(17):102496. doi: 10.1016/j.jaccas.2024.102496.
A woman with Maffucci syndrome (MS) presented post partum with type B aortic dissection leading to rupture of a thoracoabdominal aneurysm. Results of multiple-gene testing for heritable thoracic aortic disease were negative. Although conjectural, this patient's aortic disease may be related to MS, and surveillance for aortic disease in patients with MS may be appropriate.
一名患有马富西综合征（MS）的女性产后出现B型主动脉夹层，导致胸腹主动脉瘤破裂。遗传性胸主动脉疾病的多基因检测结果为阴性。尽管只是推测，但该患者的主动脉疾病可能与MS有关，对MS患者进行主动脉疾病监测可能是合适的。
