病例报告：左心室流出道梗阻与5号染色体短臂缺失的关联。
Case Report: An association of left ventricular outflow tract obstruction with 5p deletions.
作者信息
Mascho Kira, Yatsenko Svetlana A, Lo Cecilia W, Xu Xinxiu, Johnson Jennifer, Helvaty Lindsey R, Burns Wechsler Stephanie, Murali Chaya N, Lalani Seema R, Garg Vidu, Hodge Jennelle C, McBride Kim L, Ware Stephanie M, Lin Jiuann-Huey Ivy
机构信息
Division of Pediatric Critical Care, Rainbow Babies and Children's Hospital, Cleveland, OH, United States.
University of Pittsburgh, Pittsburgh, PA, United States.
出版信息
Front Genet. 2024 Oct 18;15:1451746. doi: 10.3389/fgene.2024.1451746. eCollection 2024.
INTRODUCTION
5p deletion syndrome, also called Cri-du-chat syndrome 5p is a rare genetic syndrome with reports up to 36% of patients are associated with congenital heart defects. We investigated the association between left outflow tract obstruction and Cri-du-chat syndrome.
METHODS
A retrospective review of the abnormal microarray cases with congenital heart defects in Children's Hospital of Pittsburgh and the Cytogenomics of Cardiovascular Malformations Consortium.
RESULTS
A retrospective review at nine pediatric centers identified 4 patients with 5p deletions and left outflow tract obstruction (LVOTO). Three of these patients had additional copy number variants. We present data suggesting an association of LVOTO with 5p deletion with high mortality in the presence of additional copy number variants.
CONCLUSION
A rare combination of 5p deletion and left ventricular outflow obstruction was observed in the registry of copy number variants and congenital heart defects.
引言
5p缺失综合征，也称为猫叫综合征，是一种罕见的遗传综合征，据报道高达36%的患者伴有先天性心脏缺陷。我们研究了左心室流出道梗阻与猫叫综合征之间的关联。
方法
对匹兹堡儿童医院先天性心脏缺陷的异常微阵列病例以及心血管畸形细胞基因组学联盟进行回顾性研究。
结果
对九个儿科中心的回顾性研究确定了4例患有5p缺失和左心室流出道梗阻（LVOTO）的患者。其中三名患者有额外的拷贝数变异。我们的数据表明，在存在额外拷贝数变异的情况下，LVOTO与5p缺失相关，且死亡率很高。
结论
在拷贝数变异和先天性心脏缺陷登记中观察到5p缺失与左心室流出道梗阻的罕见组合。
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