Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.

ABSTRACT:

Background

Heterotaxy syndrome is caused by left-right asymmetry disturbances and is associated with abnormal lateralisation of the abdominal and thoracic organs. The heart is frequently involved and the severity of the abnormality usually determines the outcome.

Methods

We performed a direct sequence analysis of the coding sequence of genes including Zinc Finger Protein of the Cerebellum 3, Left-Right Determination Factor 2, Activin A Receptor Type IIB, and Cryptic in 47 patients with laterality defects and congenital cardiac disease.

Results

Of the 47 patients, 31 (66%) had atrioventricular septal defects, 34 (72%) had abnormal systemic venous return, 25 (53%) had transposed or malposed great arteries, and 20 (43%) had pulmonary venous abnormalities. We identified t

SUBMITTER: Ma L 

PROVIDER: S-EPMC3678527 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature