Histologic differences between the ascending and descending aortas in young adults with fibrillin-1 mutations
Histologic differences between the ascending and descending aortas in young adults with fibrillin-1 mutations
复制标题
fibrillin-1 突变的年轻人升主动脉和降主动脉之间的组织学差异
DOI：
10.1016/j.jtcvs.2019.01.126
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发表时间：
2020
期刊：
影响因子：
--
通讯作者：
Kobayashi Junjiro
中科院分区：
文献类型：
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作者：
Seike Yoshimasa;Minatoya Kenji;Matsuda Hitoshi;Ishibashi-Ueda Hatsue;Morisaki Hiroko;Morisaki Takayuki;Kobayashi Junjiro
ObjectivesThis study aims to review the clinical results of young adult patients with aortic disease associated with mutations in the tumor in-1 gene（FBN1）and discuss the histological differences between the ascending and descending aortic tas.MethodsBetween 2012 and 2015，94 patients aged under 50 years undergoed surgery for thoracic aortic diseases. 42例（44.7%）患者存在FBN-1突变。其中，40例患者（42.5%）的手术标本用于组织学评价纳入本研究。结果主动脉根部扩张（Z ≥2）39例（97.5%），晶状体异位13例（32.5%），其中主动脉根部扩张13例（32.5%）; 39例（97.5%）符合马凡氏综合征的诊断标准。无院内死亡。大多数（27/29：93.1%）升主动脉标本呈囊性内侧坏死模式。III级是最严重的情况，这些病例分为I级（n = 2）、II级（n = 5）和III级（n = 20）。相比之下，降主动脉只有6例（6/17：35.3%）表现出囊性中膜坏死模式，分为I级（n = 2）和III级（n = 4），（P< .00001）。结论与升主动脉相比，降主动脉显示囊性中膜坏死的标本较少。这种差异可能影响FBN-1突变相关的马凡氏综合征的特征性主动脉疾病。
ObjectivesThis study aimed to review the clinical results of young adult patients with aortic disease associated with mutations in the fibrillin-1 gene(FBN1)and disclose the histologic differences between the ascending and descending aortas.MethodsBetween 2012 and 2015, 94 patients aged less than 50 years underwent surgery for thoracic aortic diseases. Forty-two patients (44.7%) hadFBN-1mutations. Of these, 40 patients (42.5%) with surgical specimens for histologic evaluation were included in the study. With the histologic results including the specimen sampled at their previous operations, cystic medial necrosis was classified into 3 grades according to the degree of the cystic area.ResultsThirty-nine patients (97.5%) had aortic root dilatation (Z ≥2), and 13 patients (32.5%) had ectopia lentis. Thirty-nine patients (97.5%) fulfilled the diagnostic criteria for Marfan syndrome. There were no in-hospital deaths. The majority (27/29: 93.1%) of the specimens of the ascending aorta revealed cystic medial necrosis pattern. With grade III being the most severe condition, these cases were classified into grade I (n = 2), grade II (n = 5), and grade III (n = 20). In contrast, only 6 specimens (6/17: 35.3%) of the descending aorta showed a cystic medial necrosis pattern that was classified into grade I (n = 2) and grade III (n = 4), (P< .00001).ConclusionsFewer specimens of the descending aorta revealed cystic medial necrosis compared with those of the ascending aorta. This difference might influence the characteristic aortic disease in Marfan syndrome associated withFBN-1mutations.