考登综合征呈现上升性大动脉动脉瘤:心声图和计算机断层扫描血管学发现
Maria Elisa Martini Albrecht1,2, Maurício Paiva3, Paul Salvador Morales1
1Service of Pediatric Cardiology and Cardiac Surgery, Rede D'Or São Luiz, São Paulo, Brazil.
Indian journal of thoracic and cardiovascular surgery
|February 12, 2026
概括
与PTEN基因突变相关的考登综合征,可以在儿童中引起大动脉动脉瘤. 早期的心血管查对于管理这种罕见疾病和预防严重并发症至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 心脏病学 心脏病学
- 儿科 儿科 儿科
背景情况:
- 考登综合征是一种罕见的遗传疾病,与PTEN基因突变有关.
- 它通常呈现出牙瘤和癌症风险增加.
- 考登综合征的心血管表现并未得到充分了解.
研究的目的:
- 报告一名患有考登综合征的儿童上升大动脉动脉瘤病例.
- 突出 PTEN 突变可能导致血管异常的潜力.
- 强调在考登综合征中需要进行心血管查.
主要方法:
- 一个4岁男孩患上升动脉动脉瘤的病例报告.
- 鉴定致病性PTEN突变的基因检测.
- 对考登综合征特征的家族病史的审查.
主要成果:
- 患者接受了Bentall de Bono手术,以治疗上升大动脉动脉瘤.
- 基因分析证实了PTEN突变.
- 家庭病史支持了考登综合征的诊断.
结论:
- PTEN突变可能与未被认可的血管表型有关,包括大动脉动脉瘤.
- 在考登综合征监测中应考虑心血管查,包括血管成像.
- 早期检测和干预对于降低儿科患者的发病率和死亡率至关重要.
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