TY - JOUR
T1 - A rare case of 1q31.1–q32.1 deletion with congenital heart disease
AU - Takarada, Shinya
AU - Yoshimura, Naoki
AU - Yo, Niida
AU - Hirono, Keiichi
N1 - Publisher Copyright:
© 2023 Elsevier Ltd
PY - 2023/7
Y1 - 2023/7
N2 - 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.
AB - 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.
KW - 1q31.1–q32.1 deletion
KW - Congenital heart disease
KW - Yasui procedure
UR - http://www.scopus.com/inward/record.url?scp=85151420398&partnerID=8YFLogxK
U2 - 10.1016/j.jccase.2023.02.017
DO - 10.1016/j.jccase.2023.02.017
M3 - 学術論文
C2 - 37360830
AN - SCOPUS:85151420398
SN - 1878-5409
VL - 28
SP - 7
EP - 10
JO - Journal of Cardiology Cases
JF - Journal of Cardiology Cases
IS - 1
ER -