TY - JOUR
T1 - 2q37.3 Deletion with Complex Heart Defects Suggesting Interruption of Early Ventricular Looping
AU - Safi, Sanam
AU - Yamasaki, Takato
AU - Glidden, David J.
AU - Sanders, Stephen P.
AU - Carreon, Chrystalle Katte
N1 - Publisher Copyright:
© 2022, Tech Science Press. All rights reserved.
PY - 2022
Y1 - 2022
N2 - A maternally inherited 828 kb microdeletion of 2q37.3 manifested in a 3-week-old premature boy as left juxtaposition of the atrial appendages associated with tricuspid atresia, double outlet infundibulum, subvalvar pulmonary atresia, large secundum atrial septal defect, and right aortic arch with mirror-image branching, consistent with developmental arrest early in heart looping. To the best of our knowledge, no previous 2q37 deletion syndrome has been reported with such a severe cardiac dysmorphology. Hence, this case adds to the cardiac phenotypes identified in 2q37 deletion syndrome.
AB - A maternally inherited 828 kb microdeletion of 2q37.3 manifested in a 3-week-old premature boy as left juxtaposition of the atrial appendages associated with tricuspid atresia, double outlet infundibulum, subvalvar pulmonary atresia, large secundum atrial septal defect, and right aortic arch with mirror-image branching, consistent with developmental arrest early in heart looping. To the best of our knowledge, no previous 2q37 deletion syndrome has been reported with such a severe cardiac dysmorphology. Hence, this case adds to the cardiac phenotypes identified in 2q37 deletion syndrome.
KW - 2q37.3 deletion
KW - Double outlet infundibulum
KW - Juxtaposition of the atrial appendages
KW - Right aortic arch
KW - Subvalvar pulmonary atresia
KW - Tricuspid atresia
UR - http://www.scopus.com/inward/record.url?scp=85126310105&partnerID=8YFLogxK
U2 - 10.32604/chd.2022.019743
DO - 10.32604/chd.2022.019743
M3 - Journal article
AN - SCOPUS:85126310105
SN - 1747-079X
VL - 17
SP - 141
EP - 146
JO - Congenital Heart Disease
JF - Congenital Heart Disease
IS - 2
ER -