一例罕见的伴有先天性心脏病的1q31.1-q32.1缺失病例。
A rare case of 1q31.1-q32.1 deletion with congenital heart disease.
作者信息
Takarada Shinya, Yoshimura Naoki, Yo Niida, Hirono Keiichi
机构信息
Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan.
1st Department of Surgery, Faculty of Medicine, University of Toyama, Toyama, Japan.
出版信息
J Cardiol Cases. 2023 Mar 25;28(1):7-10. doi: 10.1016/j.jccase.2023.02.017. eCollection 2023 Jul.
UNLABELLED
Partial deletion of the long arm of chromosome 1 is a rare chromosomal abnormality that is not associated with congenital heart disease (CHD). Here we report a case of 1q31.1-q32.1 deletion with CHD, bicuspid aortic valve, aortic coarctation, and ventricular septal defect, which were successfully managed with surgeries. Since the phenotypes of partial 1q deletion vary for each patient, careful follow-up is required.
LEARNING OBJECTIVE
We report a case of 1q31.1-q32.1 deletion with, bicuspid aortic valve, aortic coarctation, and ventricular septal defect, which were successfully managed with surgeries including Yasui procedure.
未标注
1号染色体长臂部分缺失是一种罕见的染色体异常，与先天性心脏病（CHD）无关。在此，我们报告一例1q31.1 - q32.1缺失合并先天性心脏病、二叶式主动脉瓣、主动脉缩窄和室间隔缺损的病例，该病例通过手术成功治疗。由于1q部分缺失的表型因患者而异，因此需要仔细随访。
学习目标
我们报告一例1q31.1 - q32.1缺失合并二叶式主动脉瓣、主动脉缩窄和室间隔缺损的病例，该病例通过包括安井手术在内的手术成功治疗。
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