ArticleCirculation. Genomic and precision medicine2023
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.
Article in Circulation. Genomic and precision medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Decoding Long Noncoding RNAs in Cardiac Development and Congenital Heart Disease: Recent Advances and Clinical Perspectives.Circulation. Genomic and precision medicine · 2026Review
- Body Region Dysmorphology Is Predictive of Genetic Diagnoses in Infants With Congenital Heart Disease.Molecular genetics & genomic medicine · 2026Article
- Who will be our adult congenital heart disease patient tomorrow?European heart journal supplements : journal of the European Society of Cardiology · 2026Article
- Review
- Evaluating first-line genetic testing strategies for inpatients with congenital heart defects.Journal of genetic counseling · 2025Article
- Dysmorphology-Based Prediction Model for Genetic Disorders in Infants With Congenital Heart Disease.Circulation. Genomic and precision medicine · 2025Article
- Whole genome sequencing in early onset advanced heart failure.Scientific reports · 2025Article
- Complementary role of echocardiography, karyotyping, and chromosomal microarray in congenital cardiac anomalies.Frontiers in medicine · 2025Article
- Genetic and phenotypic architecture of human myocardial trabeculation.Nature cardiovascular research · 2024Article
- Performance of Dysmorphology-Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing.Molecular genetics & genomic medicine · 2024Article
- A validated heart-specific model for splice-disrupting variants in childhood heart disease.Genome medicine · 2024Article
- Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.American journal of human genetics · 2024Article
- Gata6 functions in zebrafish endoderm to regulate late differentiating arterial pole cardiogenesis.Development (Cambridge, England) · 2024Article
- ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease.Genome medicine · 2024Article
- Current approach to genetic testing and genetic evaluation referrals for adults with congenital heart disease.Frontiers in genetics · 2024Article
- A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.Genetics in medicine open · 2024Article
- Uncovering the Genetic Basis of Congenital Heart Disease: Recent Advancements and Implications for Clinical Management.CJC pediatric and congenital heart disease · 2023Review
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30 authors at 13 institutions in 2 countries.
Funding
Abstract
backgroundCongenital heart disease (CHD) is the most common major congenital anomaly and causes significant morbidity and mortality. Epidemiologic evidence supports a role of genetics in the development of CHD. Genetic diagnoses can inform prognosis and clinical management. However, genetic testing is not standardized among individuals with CHD. We sought to develop a list of validated CHD genes using established methods and to evaluate the process of returning genetic results to research participants in a large genomic study.
methodsTwo-hundred ninety-five candidate CHD genes were evaluated using a ClinGen framework. Sequence and copy number variants involving genes in the CHD gene list were analyzed in Pediatric Cardiac Genomics Consortium participants. Pathogenic/likely pathogenic results were confirmed on a new sample in a clinical laboratory improvement amendments-certified laboratory and disclosed to eligible participants. Adult probands and parents of probands who received results were asked to complete a post-disclosure survey.
resultsA total of 99 genes had a strong or definitive clinical validity classification. Diagnostic yields for copy number variants and exome sequencing were 1.8% and 3.8%, respectively. Thirty-one probands completed clinical laboratory improvement amendments-confirmation and received results. Participants who completed postdisclosure surveys reported high personal utility and no decision regret after receiving genetic results.
conclusionsThe application of ClinGen criteria to CHD candidate genes yielded a list that can be used to interpret clinical genetic testing for CHD. Applying this gene list to one of the largest research cohorts of CHD participants provides a lower bound for the yield of genetic testing in CHD.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.