Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report.

ABSTRACT:

Background

Atrial septal defect often become more severe when encountered in genetic syndromes. Congenital disorder of glycosylation type 1a is an inherited metabolic disorder associated with mutations in PMM2 gene and can affect almost all organs. Cardiac abnormalities vary greatly in congenital disorder of glycosylation type 1a and congenital heart defects have already been reported, but there is little knowledge about the effect of this inherited disorder on an existing congenital heart defect. Herein we report for the first time on a baby with congenital disorder of glycosylation type 1a with atrial septal defect and make a comparison of changes in atrial septal defect by follow-ups to the age of 3.

Case presentation

Our patient was an 8-month-old Han Chinese boy. At the

SUBMITTER: Wu RH 

PROVIDER: S-EPMC5781283 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature