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
{"title":"新生儿心脏呈海绵状衰竭--会是什么原因?","authors":"Arumugom Archana, Chandra Kumar Natarajan, Vaanathi Hementha Kumar, Gnanasambandam Subramaniyam, Bala Ramachandran, Komarakshi Balakrishnan, K G Suresh Rao, Abhishek Berwal, Vishwanath Nandyala, Swati Iyer","doi":"10.4103/apc.apc_193_23","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":"17 1","pages":"81-84"},"PeriodicalIF":0.9000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11198940/pdf/","citationCount":"0","resultStr":"{\"title\":\"A neonate with a spongy failing heart - What could it be?\",\"authors\":\"Arumugom Archana, Chandra Kumar Natarajan, Vaanathi Hementha Kumar, Gnanasambandam Subramaniyam, Bala Ramachandran, Komarakshi Balakrishnan, K G Suresh Rao, Abhishek Berwal, Vishwanath Nandyala, Swati Iyer\",\"doi\":\"10.4103/apc.apc_193_23\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":8026,\"journal\":{\"name\":\"Annals of Pediatric Cardiology\",\"volume\":\"17 1\",\"pages\":\"81-84\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11198940/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Pediatric Cardiology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/apc.apc_193_23\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/5/24 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Pediatric Cardiology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/apc.apc_193_23","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/24 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
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。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
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
期刊最新文献
Long-term clinical course of patients with catecholaminergic polymorphic ventricular tachycardia: A more than 10-year follow-up cohort study. Outcomes of protocol-based management for venoarterial extracorporeal membrane oxygenation in congenital heart surgery - A 2-decade experience. Jammed joints and constricted heart: The science of tribology and missing lubricin. A case report on camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Percutaneous closure of aortopulmonary window in a preterm infant. The outcome of surgery for congenital heart disease in India: A systematic review and metanalysis.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1