冠状动脉病变在一个患有Noonan表型的患者:病例报告
Simran Jain1, M S Ravindra1, Yogesh Chintaman Sathe2
1Consultant, Department of Pediatric Cardiology, Sri Sathya Sai Sanjeevani Hospital, Raipur, Chhattisgarh, India.
Annals of pediatric cardiology
|June 27, 2024
概括
努南综合征 (NS) 可以导致各种心脏缺陷,包括罕见的冠状动脉动脉瘤. 心声图通常足以诊断儿童,而CT扫描建议成人.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 努南综合征 (NS) 是一种遗传性疾病,患上先天性心脏病的患病率很高 (50-80%).
- 在NS的心脏表现是多样化的,受特定基因突变的影响.
- 常见的心脏缺陷包括肺狭窄症,高性心肌病 (HCM) 和隔膜缺陷.
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