ArticleEuropean heart journal2018
Familial co-occurrence of congenital heart defects follows distinct patterns.
Article in European heart journal, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 47 citations in OpenAlex.
- Congenital heart defects: familial recurrence patterns in Sweden.European heart journal · 2026Article
- Congenital heart disease and folate pathway gene polymorphisms: findings from a North Indian cohort.BMC cardiovascular disorders · 2026Article
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- Natural genetic variation quantitatively regulates heart rate and dimension.Nature communications · 2025Article
- Identification of candidate genes harboring pathogenic variants in congenital heart disease and laterality defects in Chinese population.Frontiers in genetics · 2025Article
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- In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease.International journal of molecular sciences · 2024Review
- Human Genetics of Atrial Septal Defect.Advances in experimental medicine and biology · 2024Review
- Human Genetics of Congenital Heart Defects.Advances in experimental medicine and biology · 2024Review
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- Rare variants inHGG advances · 2023Article
- Triple repeated fetal congenital heart disease linked to PLD1 mutation: a case report.Journal of medical case reports · 2023Article
- Coarctation of the Aorta: Diagnosis and Management.Diagnostics (Basel, Switzerland) · 2023Review
- Case-control association study of congenital heart disease from a tertiary paediatric cardiac centre from North India.BMC pediatrics · 2023Article
- CHDbase: A Comprehensive Knowledgebase for Congenital Heart Disease-related Genes and Clinical Manifestations.Genomics, proteomics & bioinformatics · 2023Article
- Recurrence pattern of non-syndromic familial congenital heart diseases among a large cohort of families from Egypt.BMC pediatrics · 2022Article
- Differential requirement for DICER1 activity during the development of mitral and tricuspid valves.Journal of cell science · 2022Article
- Genomic frontiers in congenital heart disease.Nature reviews. Cardiology · 2022Review
- Article
- Abnormal Left-Hemispheric Sulcal Patterns in Adults With Simple Congenital Heart Defects Repaired in Childhood.Journal of the American Heart Association · 2021Article
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Authors and funding
14 authors at 10 institutions in 5 countries.
Funding
Abstract
Aims: Congenital heart defects (CHD) affect almost 1% of all live born children and the number of adults with CHD is increasing. In families where CHD has occurred previously, estimates of recurrence risk, and the type of recurring malformation are important for counselling and clinical decision-making, but the recurrence patterns in families are poorly understood. We aimed to determine recurrence patterns, by investigating the co-occurrences of CHD in 1163 families with known malformations, comprising 3080 individuals with clinically confirmed diagnosis. Methods and results: We calculated rates of concordance and discordance for 41 specific types of malformations, observing a high variability in the rates of concordance and discordance. By calculating odds ratios for each of 1640 pairs of discordant lesions observed between affected family members, we were able to identify 178 pairs of malformations that co-occurred significantly more or less often than expected in families. The data show that distinct groups of cardiac malformations co-occur in families, suggesting influence from underlying developmental mechanisms. Analysis of human and mouse susceptibility genes showed that they were shared in 19% and 20% of pairs of co-occurring discordant malformations, respectively, but none of malformations that rarely co-occur, suggesting that a significant proportion of co-occurring lesions in families is caused by overlapping susceptibility genes. Conclusion: Familial CHD follow specific patterns of recurrence, suggesting a strong influence from genetically regulated developmental mechanisms. Co-occurrence of malformations in families is caused by shared susceptibility genes.
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