Investigation of somatic NKX2-5 mutations in congenital heart disease.

ABSTRACT:

Background

Reports of somatic mutations found in hearts with cardiac septal defects have suggested that these mutations are aetiologic in pathologic cardiac development. However, the hearts in these reports had been fixed in formalin for over 22 years. Because of the profound implication of this finding, we attempted to replicate it using fresh frozen tissue obtained in the current era from 28 patients with septal defects who underwent cardiac surgery and who were enrolled in our congenital heart disease tissue bank.

Methods

Our cohort included patients with atrial septal defects (ASD, n = 13), ventricular septal defects (VSD, n = 5), and atrioventricular canal defects (AVCD, n = 10). Cardiac tissue samples were collected both from diseased tissue located immediately adjacen

SUBMITTER: Draus JM 

PROVIDER: S-EPMC2628540 | biostudies-literature | 2009 Feb

REPOSITORIES: biostudies-literature