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结节性硬化症表现为新生儿青紫,原因是横纹肌瘤导致三尖瓣梗阻,需要进行布莱洛克-陶西格分流术。

Tuberous sclerosis presenting as neonatal cyanosis because of rhabdomyoma causing tricuspid valve obstruction needing a Blalock-Taussig shunt.

作者信息

Obeidat Monther, Qawasmeh Yazan, Tarawneh Hani, Sawalhah Ibrahim, Tawalbeh Ala'a

机构信息

Queen Alia Heart Institute, Pediatric Cardiology, Royal Medical Services, Amman, Jordan.

Queen Rania Hospital, Pediatrics, Royal Medical Services, Amman, Jordan.

出版信息

J Saudi Heart Assoc. 2018 Jan;30(1):66-68. doi: 10.1016/j.jsha.2017.04.001. Epub 2017 Apr 21.

DOI:10.1016/j.jsha.2017.04.001
PMID:29296069
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5744029/
Abstract

We report a newborn female baby who presented at 6 hours of age with cyanosis without any signs of respiratory distress. Cardiovascular and systemic examination was unremarkable apart from cyanosis (saturation 75%). An echocardiogram showed multiple echogenic and homogeneous masses in the interventricular septum, one of which was big and protruding through the tricuspid valve causing right ventricular inflow obstruction. There was a small atrial septal defect (ASD) shunting right to left and patent ductus arteriosus (PDA) shunting left to right. The provisional diagnosis was rhabdomyoma. Blalock-Taussig shunt was done to preserve the tricuspid valve, because these masses tend to regress spontaneously, which was the case after few months. Subsequently, the patient was diagnosed with tuberous sclerosis.

摘要

我们报告了一名新生女婴,她在出生6小时时出现青紫,无任何呼吸窘迫迹象。除青紫(血氧饱和度75%)外,心血管和全身检查无异常。超声心动图显示室间隔有多个回声增强且均匀的肿块,其中一个较大,穿过三尖瓣突出,导致右心室流入道梗阻。有一个小型房间隔缺损(ASD),右向左分流,以及动脉导管未闭(PDA),左向右分流。初步诊断为横纹肌瘤。由于这些肿块往往会自行消退(几个月后确实如此),为保留三尖瓣进行了Blalock-Taussig分流术。随后,该患者被诊断为结节性硬化症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3465/5744029/8f412af19f61/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3465/5744029/b5793c8507d7/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3465/5744029/35b58b694753/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3465/5744029/8f412af19f61/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3465/5744029/b5793c8507d7/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3465/5744029/35b58b694753/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3465/5744029/8f412af19f61/gr3.jpg

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本文引用的文献

1
Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.结节性硬化症综合诊断标准更新:2012 年国际结节性硬化症共识会议推荐。
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8
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9
Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma.心脏横纹肌瘤患者中结节性硬化症的发病率。
Am J Med Genet. 1990 Dec;37(4):443-6. doi: 10.1002/ajmg.1320370402.
10
Cardiac rhabdomyomas in tuberous sclerosis.
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