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法洛四联症

最后审阅: 12 Nov 2024
最后更新: 18 Jul 2023

小结

定义

病史和体格检查

关键诊断因素

  • 高度发绀发作
  • 粗糙的喷射性收缩期杂音
  • 发绀
  • 呼吸急促
完整详情

其他诊断因素

  • 休克
完整详情

危险因素

  • 21三体、18三体或13三体
  • 22 号染色体 q11 缺失(DiGeorge 综合征)
  • Jagged1 基因突变(Alagille 综合征)
  • NKX2.5 基因突变
  • 环境因素
  • 先天性心脏病家族史
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诊断性检查

首要检查

  • 脉搏血氧测量测定法
  • 超声心动图
  • 心电图 (ECG)
  • 胸部 X 线检查 (CXR)
  • 超氧合测试
完整详情

需考虑的检查

  • 心脏 CT 血管造影或 MRI
  • 心导管检查
完整详情

治疗流程

急症处理

高度发绀

重度紫绀和重度肺动脉血流受限的新生儿

无缓解的重度发绀新生儿或婴儿

持续性治疗

所有患者

撰稿人

作者

Jeffrey Gossett, MD
Jeffrey Gossett

Vice President and System Chief of Pediatric Cardiology

Professor of Pediatrics

Division of Pediatric Cardiology

Cohen Children’s Medical Center, Northwell Health

New Hyde Park

NY

利益声明

JG declares that he has no competing interests.

鸣谢

Dr Jeffrey Gossett would like to gratefully acknowledge Dr Anna Kamp, a previous contributor to this topic.

利益声明

AK declares that she has no competing interests.

同行评议者

Adam B. Christopher, MD

Assistant Professor of Pediatrics

Director of Cardiac MRI

UPMC Children's Hospital of Pittsburgh

Pittsburgh

PA

利益声明

ABC declares that he has no competing interests.

Ranjit Aiyagari, MD

Clinical Assistant Professor of Pediatrics

University of Michigan

Ann Arbor

MI

利益声明

RA declares that he has no competing interests.

Michael Cheung, BSc, MBChB, MD

Deputy Director

Department of Cardiology

Royal Children's Hospital

Melbourne

Australia

利益声明

MC declares that he has no competing interests.

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