动脉动脉瘤和剖析:朝着塔顿-布朗-拉赫曼综合征的演变表型发展
Vicken Totten1,2, Gisela Teixido-Tura3,4, Fermina Lopez-Grondona5
1Kaweah Health System, Visalia, California, USA.
Journal of medical genetics
|July 3, 2024
概括
塔顿-布朗-拉赫曼综合征 (TBRS) 与较高的动脉动脉瘤和解剖风险有关,特别是在大动脉中. 早期的血管监测对于管理受影响个体这种可能危及生命的疾病至关重要.
科学领域:
- 遗传学和罕见疾病.
- 心血管研究的心血管研究.
- 综合征性疾病 综合征性疾病
背景情况:
- 塔顿-布朗-拉赫曼综合征 (TBRS) 是一种罕见的遗传疾病,由DNMT3A变异引起,其特点是过度生长,智力障碍和异形特征.
- 在TBRS中已知心脏表现,包括先天性形,但大动脉扩张很少被描述.
- 动脉血管软弱尚未被广泛认为是TBRS的关键特征.
研究的目的:
- 描述有动脉扩张和/或剖析的TBRS患者的临床和分子特征.
- 对TBRS患者胸前大动脉动脉瘤 (TAA) 的现有文献进行审查.
- 为了更好地定义血管表型,并建议对TBRS进行适当的随访.
主要方法:
- 详细的临床和分子表征八个新的TBRS患者与动脉动脉瘤/解剖.
- 综合性文献综述7个以前报告的TBRS中TAA的病例.
- 对血管表现的分析,以界定表型.
主要成果:
- 八名新的TBRS患者出现了动脉动脉瘤,主要涉及大动脉.
- 三名新患者经历了动脉剖析,需要进行关键的手术干预.
- 在TBRS患者中,大动脉疾病的患病率明显高于一般人群.
结论:
- 动脉动脉瘤和剖析是TBRS的严重,年龄相关的并发症.
- 血管软弱,特别是大动脉软弱,似乎是TBRS的一个主要特征.
- 强烈建议对TBRS患者进行定期的血管监测,以监测动脉扩张和剖析.
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