巨大的上升性大动脉动脉瘤与即将破裂作为表现的切口1B:一个病例报告
Alejandro Used-Gavín1,2, José María Larrañaga-Moreira1,2, Rafael Lago-Cascudo2,3
1Inherited Cardiovascular Diseases Unit, Hospital Universitario A Coruña (HUAC), As Xubias 84, 8th floor, 15006 A Coruña, Spain.
European heart journal. Case reports
|November 29, 2023
概括
对于患有胸前大动脉动脉瘤的年轻患者来说,基因检测至关重要,特别是当怀疑是1B型 (CL1B) 的切口时. 这一案例突显了自体衰退的CL1B中的EFEMP2基因变异.
科学领域:
- 心血管医学 心血管医学
- 遗传学 遗传学 是一个
- 罕见疾病 罕见疾病
背景情况:
- 胸前动脉动脉瘤 (TAA) 通常无症状,但可能导致危及生命的急性动脉综合征.
- 遗传因素约占TAA病例的20-25%,特别是在年轻人或具有综合征特征的人群中.
- 家庭性动脉动脉病症通常遵循自体主导遗传,但存在自体衰退形式,如切口性松动型1B (CL1B).
研究的目的:
- 在年轻的成年人中呈现一个与CL1B相关的大动脉疾病的病例.
- 强调基因检测在诊断非典型或综合征性动脉动脉病症中的作用.
- 要突出考虑TAA中自体逆向遗传模式的重要性.
主要方法:
- 一个26岁的男性的病例报告,患有巨大的上升大动脉动脉瘤和心周输液.
- 基因分析确定了EFEMP2基因中的同卵性p.Ser137Cys变异,证实了CL1B.
- 涉及上升大动脉置换的手术干预 (本特尔手术).
主要成果:
- 该患者被诊断患有CL1B,原因是同卵性EFEMP2变体.
- 成功地进行了上升性大动脉的手术修复.
- 患者没有出现并发症,并且有了有利的2年随访.
结论:
- 这一案例凸显了对患有动脉动脉病的年轻患者进行基因检测的重要性,即使没有家族病史.
- 通过基因分析早期诊断CL1B对于适当的管理至关重要.
- 在TAA的差异诊断中,应考虑CL1B中所见的大动脉疾病的自体相递归遗传性.
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