COVID-19 in congenital heart disease (COaCHeD) study.

Background: COVID-19 has caused significant worldwide morbidity and mortality. Congenital heart disease (CHD) is likely to increase vulnerability and understanding the predictors of adverse outcomes is key to optimising care.

Objective: Ascertain the impact of COVID-19 on people with CHD and define risk factors for adverse outcomes.

Consultant staffing in UK congenital cardiac services: a 10-year survey of leavers and joiners.

Objectives: To report the numbers of consultant congenital cardiac surgeons and cardiologists who have joined and left UK practice over the last 10 years and explore the reasons for leaving.

Methods: Retrospective observational questionnaire study completed between 11 June 2019 and 1 July 2020 by UK level 1 congenital cardiac centres of 10-year consultant staff movement and reasons suggested for leaving UK practice.

Results: At survey completion there were 218 (202 whole time equivalent (WTE)) consultant cardiologists and surgeons working within level 1 centres made up of 39 (38 WTE) surgeons, 137 (128.

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.

Purpose: In this study we aimed to establish the genetic cause of a myriad of cardiovascular defects prevalent in individuals from a genetically isolated population, who were found to share a common ancestor in 1728.

Methods: Trio genome sequencing was carried out in an index patient with critical congenital heart disease (CHD); family members had either exome or Sanger sequencing. To confirm enrichment, we performed a gene-based association test and meta-analysis in two independent validation cohorts: one with 2685 CHD cases versus 4370 .

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

Congenital heart defects involving left-sided lesions (LSLs) are relatively common birth defects with substantial morbidity and mortality. Previous studies have suggested a high heritability with a complex genetic architecture, such that only a few LSL loci have been identified. We performed a genome-wide case-control association study to address the role of common variants using a discovery cohort of 778 cases and 2756 controls.

Giant Right Atrial Aneurysm: Antenatal Diagnosis and Surgical Treatment.

Giant congenital right atrial aneurysms are rare, with their natural history complicated by death, heart failure, arrhythmias, and thrombosis. Prenatal diagnosis of the defect is feasible and allows an early preparation of a plan for management. We present details of a patient diagnosed prenatally with a giant right atrial aneurysm, which was successfully treated surgically as soon as the patient became symptomatic.

Rare variants in NR2F2 cause congenital heart defects in humans.

Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly understood. We performed exome sequencing in 13 parent-offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five rare missense variants (two of which arose de novo) in the highly conserved gene NR2F2, a very significant enrichment (p = 7.

Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls.

Background: Association between the C677T polymorphism of the methylene tetrahydrofolate reductase (MTHFR) gene and congenital heart disease (CHD) is contentious.

Methods And Results: We compared genotypes between CHD cases and controls and between mothers of CHD cases and controls. We placed our results in context by conducting meta-analyses of previously published studies.

Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot.

Background: Epidemiological studies indicate a substantial excess familial recurrence of non-syndromic Tetralogy of Fallot (TOF), implicating genetic factors that remain largely unknown. The Rho induced kinase 1 gene (ROCK1) is a key component of the planar cell polarity signalling pathway, which plays an important role in normal cardiac development. The aim of this study was to investigate the role of genetic variation in ROCK1 on the risk of TOF.

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

We carried out a genome-wide association study (GWAS) of congenital heart disease (CHD). Our discovery cohort comprised 1,995 CHD cases and 5,159 controls and included affected individuals from each of the 3 major clinical CHD categories (with septal, obstructive and cyanotic defects). When all CHD phenotypes were considered together, no region achieved genome-wide significant association.

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of Fallot (TOF), using a northern European discovery set of 835 cases and 5159 controls. A region on chromosome 12q24 was associated (P = 1.4 × 10(-7)) and replicated convincingly (P = 3.

A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.

Background: Tetralogy of Fallot (TOF) is the commonest cyanotic form of congenital heart disease. In 80% of cases, TOF behaves as a complex genetic condition exhibiting significant heritability. As yet, no common genetic variants influencing TOF risk have been robustly identified.

Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.

Background.  Variants of several genes encoding transcription modulators, signal transduction, and structural proteins are known to cause Mendelian congenital heart disease (CHD). NKX2-5 and GATA4 were the first CHD-causing genes identified by linkage analysis in large affected families.

Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation.

Several previous studies have investigated the role of common promoter variants in the vascular endothelial growth factor (VEGF) gene in causing congenital cardiovascular malformation (CVM). However, results have been discrepant between studies and no study to date has comprehensively characterised variation throughout the gene. We genotyped 771 CVM cases, of whom 595 had the outflow tract malformation Tetralogy of Fallot (TOF), and carried out TDT and case-control analyses using haplotype-tagging SNPs in VEGF.

Aortic root abscess without involvement of the aortic valve in a child caused by Panton-Valentine leukocidin-positive staphylococci.

Aortic root abscess without any involvement of the aortic valve is extremely rare. This report describes an 11-year-old girl with subperiosteal abscess due to a virulent organism called Panton-Valentine leukocidin-secreting staphylococci. Although her initial transthoracic echocardiogram did not show any cardiac abnormality, she subsequently experienced an aortic root abscess communicating with the left ventricle.

Transporting babies with known heart disease; who, what and where?

Perspective on the paper by Browning Carmo ()

Right ventricular outflow tract reconstruction using Contegra valved conduit: natural history and conduit performance under pressure.

Objective: To assess the performance of the bovine Contegra valved conduit used for right ventricular (RV) outflow tract reconstruction, particularly in relation to post-operative RV pressure.

Methods: Follow-up study of 64 consecutive right ventricular to pulmonary artery-conduit implants in 62 patients between January 2000 and April 2003. The majority of cases were forms of pulmonary atresia/VSD (n=24, 39%) or Fallot's tetralogy (n=13, 21%).

The experiences with oral health and dental prevention of children with congenital heart disease.

Objective: To examine the degree to which children, considered to be at risk from infective endocarditis, had received professional education and preventive procedures in regard to dental health, and to evaluate the knowledge of their parents of the link between oral health and infective endocarditis.

Materials And Methods: Questionnaires were distributed to the families of 38 children under the care of paediatric cardiology. A short dental examination was carried out.