Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital heart disease.

Background: Heterotaxy (HTX) is a thoracoabdominal organ anomaly syndrome and commonly accompanied by congenital heart disease (CHD). The aim of this study was to analyze rare copy number variations (CNVs) in a HTX/CHD cohort and to examine the potential mechanisms contributing to HTX/CHD.

Methods: Chromosome microarray analysis was used to identify rare CNVs in a cohort of 120 unrelated HTX/CHD patients, and available samples from parents were used to confirm the inheritance pattern.

Analysis of the gene mutations in patients of congenital heart disease with extracardiac malformations.

Background: Congenital heart disease (CHD) is a common birth defect, and is frequently accompanied with extracardiac malformations (ECM). Uncovering the genetic etiology of CHD may have a meaningful impact on disease management. De novo variants have been proven to be associated with CHD.

An X-linked mutation identified in patients with congenital heart disease with neurodevelopmental disabilities.

Background: Congenital heart disease (CHD) is the most common birth defect and is often accompanied by neurodevelopmental disabilities (NDD) which increase the associated mortality. Plexin families are known to play a key role in the development of heart and the occurrence of neurodevelopmental anomalies. However, there has been no report of mutation in isolated CHD or CHD with concomitant NDD.

Clinical characteristics and mortality risk prediction model in children with acute myocarditis.

Background: Acute myocarditis (AMC) can cause poor outcomes or even death in children. We aimed to identify AMC risk factors and create a mortality prediction model for AMC in children at hospital admission.

Methods: This was a single-center retrospective cohort study of AMC children hospitalized between January 2016 and January 2020.