22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases

Frequency of 22q11 deletions in patients with conotruncal defects.

OBJECTIVES This study was designed to determine the frequency of 22q11 deletions in a large, prospectively ascertained sample of patients with conotruncal defects and to evaluate the deletion frequency when additional cardiac findings are also considered. BACKGROUND Chromosome 22q11 deletions are present in the majority of patients with DiGeorge, velocardiofacial and conotruncal anomaly face ...

Guidelines for 22q11 deletion screening of patients with conotruncal defects.

Goldmuntz et al. (1) have reported the frequency of 22q11 deletions in a prospectively ascertained sample of 251 patients with conotruncal defects. Deletions were found in 17.9% of the patients, including 50% with interrupted aortic arch (IAA), 34.3% with truncus arteriosus (TA), and 15.9% with tetralogy of Fallot (TOF). Although this study was designed to determine the frequency of deletions i...

New Insight from Using Spatiotemporal Image Correlation in Prenatal Screening of Fetal Conotruncal Defects

Birth outcomes of cases with conotruncal defects of heart - a population-based case-control study.

OBJECTIVE The aim of this study was to evaluate the birth outcomes of cases with four types of conotruncal defects (CTDs), i.e. common truncus, transposition of great arteries, tetralogy of Fallot and double-outlet right ventricle. METHODS Birth outcomes of 597 live-born cases with CTD and 38,151 population controls without any defects were compared in the population-based large dataset of th...

Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects.

GATA binding protein 6 (GATA6) encodes a zinc‑finger transcription factor that is essential for normal heart development. Mutations in this gene lead to conotruncal heart defects associated with cyanotic congenital heart disease; however, it remains unclear whether the mutations in GATA6 are also responsible for the development of the nonsyndromic conotruncal heart defects. The coding region exo...