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1p36缺失综合征与左心室致密化不全心肌病——两例报告

1p36 Deletion Syndrome and Left Ventricular Non-compaction Cardiomyopathy-Two Cases Report.

作者信息

Jang Subin, Taber Allison, Bateman Michael G, Steiner Marie E, Ameduri Rebecca K, Griselli Massimo

机构信息

Division of Pediatric Cardiac Surgery, Department of Surgery, University of Minnesota Masonic Children's Hospital, Minneapolis, MN, United States.

Division of Pediatric Critical Care, Department of Pediatrics, University of Minnesota Masonic Children's Hospital, Minneapolis, MN, United States.

出版信息

Front Pediatr. 2021 Jun 7;9:653633. doi: 10.3389/fped.2021.653633. eCollection 2021.

Abstract

1p36 deletion is the most common terminal deletion syndrome in humans. Herein, we report two cases, a 5-month-old female and a 14.5-year-old female, both with 1p36 deletion and left ventricular non-compaction cardiomyopathy. They presented with severely depressed left ventricle function and underwent heart transplantation with excellent outcomes. Given the incidence of heart defects and cardiomyopathy in 1p36 deletion syndrome, it should be recommended that children with this genetic condition have screening for cardiac disease. These cases add to the current literature by demonstrating the potential therapeutic options for non-compaction in 1p36 deletion syndrome and showed the favorable outcomes.

摘要

1p36缺失是人类最常见的末端缺失综合征。在此,我们报告两例病例,一名5个月大的女性和一名14.5岁的女性,均患有1p36缺失和左心室致密化不全心肌病。她们表现为左心室功能严重受损,并接受了心脏移植,结果良好。鉴于1p36缺失综合征中心脏缺陷和心肌病的发病率,建议患有这种基因疾病的儿童进行心脏病筛查。这些病例通过展示1p36缺失综合征中致密化不全的潜在治疗选择,丰富了当前的文献,并显示了良好的结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb3e/8215124/377096209f6c/fped-09-653633-g0001.jpg

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