The application of next-generation sequencing to study congenital heart disease (CHD) is
increasingly providing new insights into the causes and mechanisms of this prevalent birth …

Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …

This review aimed to update the clinical practice guidelines for managing children and
adolescents with 22q11. 2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society, the …

This 8th Edition of Moss and Adams' Heart Disease in Infants, Children, and Adolescents:
Including the Fetus and Young Adult, provides updated and useful information from leading …

Abstract The 22q11. 2 deletion syndrome has an estimated prevalence of 1 in 4–6,000
livebirths. The phenotype varies widely; the most common features include: facial …

Congenital heart diseases (CHDs) and cardiovascular abnormalities are one of the pillars of
clinical diagnosis of 22q11. 2 deletion syndrome (22q11. 2DS) and still represent the main …

Background: De novo genic and copy number variants are enriched in patients with
congenital heart disease, particularly those with extra-cardiac anomalies. The impact of de …

Operative correction of tetralogy of Fallot frequently results in pulmonary insufficiency and
chronic volume overload, which have been linked to increased risk for adverse outcomes …

Background Among patients with congenital heart disease (CHD), the coexistence of
noncardiac congenital anatomic abnormalities (NC), genetic abnormalities (GA), and …

Congenital heart disease (CHD) is the most common class of major malformations in
humans. The historical association with large chromosomal abnormalities foreshadowed the …