格博德样缺损：一种先天性左心室至右心房分流。
Gerbode-ish Defect: A Congenital Left Ventricular-to-Right Atrium Shunt.
作者信息
Speiser Noah J, Wiggins Luke, Uzunyan Merujan
机构信息
Keck School of Medicine of USC, Rolling Hills Estates, California, USA.
Keck School of Medicine of USC, Rolling Hills Estates, California, USA; Division of Cardiothoracic Surgery, Children's Hospital Los Angeles, Los Angeles, California, USA.
出版信息
JACC Case Rep. 2025 Aug 20;30(24):104742. doi: 10.1016/j.jaccas.2025.104742.
BACKGROUND
A Gerbode defect is a rare communication between the left ventricle and right atrium. Patients with congenital Gerbode defects require prompt diagnosis and medical therapy to temporize their disease until more definitive surgical correction can occur.
CASE SUMMARY
A 3-day-old male infant presented to urgent care after his mother noticed episodic cyanosis of the lips and tachypnea that self-resolved. On echocardiogram, he was found to have a Gerbode type 2 defect with a shunt from the left ventricle to the right atrium across the septal leaflet of the tricuspid valve.
DISCUSSION
These rare defects are frequently missed at birth and are challenging to diagnose given their broad cardiac presentation.
TAKE-HOME MESSAGES: Cardiac causes must be included in early the differential diagnosis when evaluating cyanosis and respiratory chief complaints. Echocardiogram is valuable as a diagnostic marker for the progression of left-to-right shunts.
背景
Gerbode缺损是左心室与右心房之间罕见的交通。先天性Gerbode缺损患者需要及时诊断和药物治疗以暂时控制病情，直到能进行更确切的手术矫正。
病例摘要
一名3日龄男婴在其母亲注意到其口唇间歇性发绀和呼吸急促且自行缓解后前往急诊。超声心动图检查发现他患有2型Gerbode缺损，存在经三尖瓣隔叶从左心室向右心房的分流。
讨论
这些罕见的缺损在出生时常常被漏诊，鉴于其广泛的心脏表现，诊断具有挑战性。
要点
在评估发绀和呼吸相关主要症状时，早期鉴别诊断必须考虑心脏病因。超声心动图作为从左向右分流进展的诊断标志物很有价值。
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