A rare case of 1q31.1-q32.1 deletion with congenital heart disease

Shinya Takarada; Naoki Yoshimura; Niida Yo; Keiichi Hirono

doi:10.1016/j.jccase.2023.02.017

A rare case of 1q31.1-q32.1 deletion with congenital heart disease

J Cardiol Cases. 2023 Mar 25;28(1):7-10. doi: 10.1016/j.jccase.2023.02.017. eCollection 2023 Jul.

Authors

Shinya Takarada¹, Naoki Yoshimura², Niida Yo³, Keiichi Hirono¹

Affiliations

¹ Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan.
² 1st Department of Surgery, Faculty of Medicine, University of Toyama, Toyama, Japan.
³ Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, Uchinada-cho, Ishikawa, Japan.

Abstract

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.

Keywords: 1q31.1–q32.1 deletion; Congenital heart disease; Yasui procedure.

Publication types

Case Reports