Atrioventricular septal defect (AVSD) covers a spectrum of heart anomalies with a common
atrioventricular connection and has an incidence of 4–5.3 per 10.000 live births. About half …

Congenital heart disease (CHD) is the most common type of birth defect. Traditionally, a
polygenic model defined by the interaction of multiple genes and environmental factors was …

Atrioventricular septal defects (AVSDs) are a common severe form of congenital heart
disease (CHD). In this study we identified deleterious non-synonymous mutations in two cilia …

Background—Congenital heart defects are the most frequent malformations among
newborns and a frequent cause of morbidity and mortality. Although genetic variation …

Purpose To assess the contribution of multiple risk factors for two congenital heart defects—
hypoplastic left heart syndrome (HLHS) and tetralogy of Fallot (TOF). Methods We used data …

Objective The yield of chromosomal microarray analysis (CMA) for prenatally detected
congenital heart defects (CHD) is 6.6% to 19.2%. We evaluated the yield of CMA in cases of …

Background Transposition of the great arteries (TGA) is an uncommon but severe congenital
heart malformation of unknown etiology. Rare copy number variations (CNVs) have been …

Human cardiovascular malformations (CVMs) frequently have a genetic contribution.
Through the application of novel technologies, such as next-generation sequencing, DNA …

Congenital heart defects (CHDs) are common birth defects and result in significant morbidity
and global economic impact. Genetic factors play a role in most CHDs; however …

Advances in medical care, particularly cardiac surgery, over the past half century have led to
significant improvements in outcomes for children with chronic medical conditions. Children …