新生儿心脏呈海绵状衰竭--会是什么原因?

IF 0.9 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS
Annals of Pediatric Cardiology Pub Date : 2024-01-01 Epub Date: 2024-05-24 DOI:10.4103/apc.apc_193_23
Arumugom Archana, Chandra Kumar Natarajan, Vaanathi Hementha Kumar, Gnanasambandam Subramaniyam, Bala Ramachandran, Komarakshi Balakrishnan, K G Suresh Rao, Abhishek Berwal, Vishwanath Nandyala, Swati Iyer
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引用次数: 0

摘要

一名三代近亲结婚的新生儿在出生后第 12 天出现充血性心力衰竭。他的一个男性兄弟姐妹在 3 个月大时死亡,死因不明。他接受了减充血措施和多种肌力药物治疗。二维超声心动图显示左心室严重功能障碍,左心室有突出的小梁和深凹陷,提示左心室不充盈。他还被发现患有马蹄肾。考虑到存在心脏左室不充盈、马蹄肾以及新生儿死亡和妊娠失败的家族史,医生对他进行了临床外显子组测序。结果在 AGK 基因的第 6 号外显子中检测到一个同源错义变异,提示患有森格尔综合征。婴儿接受了定期随访,在服用利尿剂、沙库比特利-缬沙坦和每周输注左西孟旦后恢复良好。婴儿 8 个月大时,成功进行了心脏移植手术,移植后一直表现良好。儿童 LVNC 很少见,估计发病率为十万分之 0.11,婴儿期发病率最高。森格综合征为常染色体隐性遗传。迄今为止,与左心室非压缩症相关的森格综合征仅在文献中报道过一次。像我们的患儿一样出现马蹄肾的肾脏表现在以前还没有关于森格综合征的报道。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A neonate with a spongy failing heart - What could it be?

A neonate born of third-degree consanguineous marriage presented on day 12 of life with congestive cardiac failure. A male sibling died at 3 months of age, cause of which was not known. He was treated with decongestive measures and multiple inotropes. 2D Echocardiogram revealed severe Left ventricular dysfunction with prominent trabeculations and deep recesses in the left ventricle suggestive of Left ventricular non-compaction. He was also found to have horse-shoe kidney. Considering the presence of cardiac left ventricular non compaction, horse-shoe kidney and family history of neonatal death and pregnancy loss clinical exome sequencing was done. It detected a homozygous missense variant in exon 6 of the AGK gene suggestive of Senger's syndrome. Baby was on regular follow-up and was thriving well on diuretics, sacubitril-valsartan and weekly levosimendan infusions. At 8 months of age, cardiac transplantation was successfully done and baby has been doing well post-transplantation. LVNC in children is rare with an estimated incidence of 0.11 per 100,000, the highest incidence being during infancy. Senger's syndrome is autosomal recessive in inheritance. Senger's syndrome associated with Left ventricular non compaction has been reported only once in literature so far. Renal manifestations in the form of horse shoe kidney like in our index baby has not been reported previously with Senger's syndrome.

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来源期刊
Annals of Pediatric Cardiology
Annals of Pediatric Cardiology CARDIAC & CARDIOVASCULAR SYSTEMS-
CiteScore
1.40
自引率
14.30%
发文量
51
审稿时长
23 weeks
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