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Published on: July 18, 2014
Recurrence of congenital heart defects among siblings-a nationwide study
Kristoffer Brodwall1,2, Gottfried Greve3,4, Elisabeth Leirgul1,4
1Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
Insights
Familial risk factors significantly increase the likelihood of congenital heart defects (CHD) recurrence. Siblings of affected individuals have a substantially higher risk of developing CHD, highlighting genetic influences.
Area of Science:
- Cardiovascular Genetics
- Pediatric Cardiology
- Public Health
Background:
- Congenital heart defects (CHD) are the most common congenital malformations.
- While often isolated, CHD can exhibit familial aggregation, suggesting genetic predispositions.
- Understanding recurrence risks is crucial for genetic counseling and family planning.
Purpose of the Study:
- To quantify the sibling recurrence risk ratio (RRR) for congenital heart defects (CHD).
- To investigate recurrence risks across different sibling types: full siblings, same-sex twins, opposite-sex twins, and half-siblings.
- To explore recurrence risks for severe types of CHD and concordance of CHD types within affected sibling pairs.
Main Methods:
- Utilized the Medical Birth Registry of Norway (1994-2009) and linked clinical/administrative registers for CHD data.
- Identified and linked 16,078 twin pairs, 445,584 full sibling pairs, and 106,840 half-sibling pairs using unique personal identification numbers.
- Calculated adjusted sibling recurrence risk ratios (RRR) controlling for birth year, maternal age, and maternal diabetes.
Main Results:
- Full siblings of an affected child had a 4.1% risk of CHD (adjusted RRR 3.6).
- Same-sex twins showed a significantly higher RRR of 14.0, and opposite-sex twins had an RRR of 11.9.
- Half-siblings had a lower RRR of 1.5. Severe CHD recurrence in full siblings had an RRR of 6.9.
- In 50% of recurrent CHD cases, siblings had similar CHD types.
Conclusions:
- Familial risk factors play a significant role in the etiology of congenital heart defects.
- The substantially elevated recurrence risk in twins and full siblings underscores the importance of genetic components in CHD.
- These findings emphasize the need for genetic counseling and awareness in families with a history of CHD.
Abstract:
Congenital heart defects (CHD) constitute the largest group of congenital malformations. In most families, only one person has CHD; however, the risk of CHD increases for children born into families already affected. In this study, all births from 1994 through 2009 were identified in the Medical Birth Registry of Norway, including supplemental information on CHD from clinical and administrative registers, as part of the CVDNOR project. By using the unique personal identification number of each parent we were able to link 16,078 pairs of twins, 445,584 pairs of full siblings, and 106,840 pairs of half-siblings. Sibling recurrence risk ratio (RRR) was calculated using CHD status in the oldest sibling as exposure and CHD status in the younger sibling as outcome, adjusted for year of birth, maternal age, and maternal diabetes. Among full sibling pairs with CHD in the older sibling, the younger sibling had CHD in 4.1% compared to 1.1% of the pairs without CHD in the older sibling (adjusted RRR 3.6; 95% confidence interval (CI) 3.1-4.1). In same-sex twins the RRR was 14.0 (95% CI 10.6-18.6), and in opposite-sex twins the RRR was 11.9 (95% CI 7.1-19.9). For half-siblings the RRR was 1.5 (95% CI 0.8-2.8). When restricting to severe types of CHD, the RRR was 6.9 (95% CI 4.9-9.8) for full siblings. In 50% of the pairs with recurrent CHD, the siblings had similar types of CHD. The high relative risk of recurrence indicates that familial risk factors are important in the etiology of CHD.
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