Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity.

ABSTRACT:

Background

CHARGE syndrome is a complex multiple congenital malformation disorder with variable expression that is caused by mutations in the CHD7 gene. Variable heart defects occur in 74% of patients with a CHD7 mutation, with an overrepresentation of atrioventricular septal defects and conotruncal defects - including arch vessel anomalies.

Methods and results

We report an index patient with an arch vessel anomaly underlying serious feeding problems that resolved after arch vessel surgery. This led us to examine the incidence of arch vessel anomalies in our previously studied cohort of 299 patients with a CHD7 mutation. Forty-two patients (14%) had an aortic arch anomaly, mostly aberrant subclavian artery or right aortic arch, which usually occurred in

SUBMITTER: Corsten-Janssen N 

PROVIDER: S-EPMC5454153 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature