Background Chromosomal microarray analysis (CMA) provides an opportunity to understand genetic causes of congenital heart disease (CHD). The methods for describing cardiac phenotypes in patients with CMA abnormalities have been inconsistent, which may complicate clinical interpretation of abnormal testing results and hinder a more complete understanding of genotype-phenotype relationships. Methods and Results Patients with CHD and abnormal clinical CMA were accrued from 9 pediatric cardiac centers. Highly detailed cardiac phenotypes were systematically classified and analyzed for their association with CMA abnormality. Hierarchical classification of each patient into 1 CHD category facilitated broad analyses. Inclusive classification allowing multiple CHD types per patient provided sensitive descriptions. In 1363 registry patients, 28% had genomic disorders with well-recognized CHD association, 67% had clinically reported copy number variants (CNVs) with rare or no prior CHD association, and 5% had regions of homozygosity without CNV. Hierarchical classification identified expected CHD categories in genomic disorders, as well as uncharacteristic CHDs. Inclusive phenotyping provided sensitive descriptions of patients with multiple CHD types, which occurred commonly. Among CNVs with rare or no prior CHD association, submicroscopic CNVs were enriched for more complex types of CHD compared with large CNVs. The submicroscopic CNVs that contained a curated CHD gene were enriched for left ventricular obstruction or septal defects, whereas CNVs containing a single gene were enriched for conotruncal defects. Neuronal-related pathways were over-represented in single-gene CNVs, including top candidate causative genes , , and . Conclusions Intensive cardiac phenotyping in multisite registry data identifies genotype-phenotype associations in CHD patients with abnormal CMA.
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http://dx.doi.org/10.1161/JAHA.123.029340 | DOI Listing |
Hum Brain Mapp
January 2025
Center for MR Research, University Children's Hospital Zurich, Zurich, Switzerland.
The human brain connectome is characterized by the duality of highly modular structure and efficient integration, supporting information processing. Newborns with congenital heart disease (CHD), prematurity, or spina bifida aperta (SBA) constitute a population at risk for altered brain development and developmental delay (DD). We hypothesize that, independent of etiology, alterations of connectomic organization reflect neural circuitry impairments in cognitive DD.
View Article and Find Full Text PDFCardiovasc Diagn Ther
December 2024
Department of Congenital Heart Disease and Pediatric Cardiology, German Heart Center Munich, Technical University of Munich, Munich, Germany.
Background: Patients with congenital heart defects (CHDs) are at higher risk for infectious diseases. This may partly be due to frequent hospital stays and the associated exposure to pathogens. This study aims to provide a comprehensive overview of immunisation coverage among twins in which at least one twin has CHD.
View Article and Find Full Text PDFCardiovasc Diagn Ther
December 2024
Department of Medicine, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary.
Background: Dextro-transposition of the great arteries (dTGA) stands out as a prevalent cyanotic congenital heart defect (CHD), characterized by an intricate reversal in the arrangement of the major arteries. In the past, several surgical procedures have been used to treat dTGA, including the atrial switch. Although the method is no longer used, survivors of the procedure still living among us.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
June 2024
Great Ormond Street Hospital Biomedical Research Centre and Institute of Cardiovascular Science, University College London, London, United Kingdom.
Background: Given their importance as a metric for health care evaluation, this study's aim was to evaluate the rates of surgical and catheter reinterventions for children with functionally single-ventricle (f-SV) congenital heart disease (CHD) undergoing staged palliation.
Methods: We undertook a retrospective cohort study of children born with f-SV CHD between 2000 and 2018 in England and Wales, using the national registry, with survival ascertained in 2020. Competing risk analysis was used to describe the incidence of additional procedures that occurred first, during follow-up, accounting for competing events of death or transplantation.
Cardiol Young
January 2025
Department of Cardiovascular Surgery, Hacettepe University, Ankara, Turkey.
Background: Ebstein's anomaly represents 40% of congenital tricuspid valve abnormalities. Studies about paediatric Ebstein's anomaly patients are limited.
Aim: To evaluate clinical characteristics, treatment (medical/arrhythmia ablation/surgical) results, and outcome of Ebstein's anomaly patients, and to determine factors affecting arrhythmia presence and mortality.
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