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

Shinya Takarada¹, Naoki Yoshimura², Niida Yo³

¹Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan.

Journal of Cardiology Cases

|June 26, 2023

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

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