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Congenital heart defects: familial recurrence patterns in Sweden
Kalliopi Kazamia1,2, Sara Ekberg3,4, Caroline E Dietrich4
1Department of Pediatric Cardiology, Stockholm-Uppsala, Karolinska University Hospital, Eugeniavägen 23, C8:34, Solna, Stockholm, Sweden.
Insights
Congenital heart defects (CHD) run in families. Having an affected relative significantly increases CHD risk, with patterns varying by kinship and number of affected family members. This highlights the importance of family history in reproductive planning.
Area of Science:
- Cardiovascular Genetics
- Pediatric Cardiology
- Public Health Genomics
Background:
- Congenital heart defects (CHD) exhibit familial aggregation, but detailed recurrence patterns across diverse kinships and generations require updated population-based understanding.
- Improved survival rates and diagnostic accuracy for CHD necessitate contemporary estimates of familial recurrence.
- Understanding familial patterns is crucial given the increasing number of individuals with CHD surviving into adulthood.
Purpose of the Study:
- To investigate the familial recurrence patterns of congenital heart defects (CHD) among relatives.
- To provide updated, population-based estimates of CHD recurrence risk across different family relationships.
- To explore dose-response relationships and interactions with maternal comorbidities in CHD recurrence.
Main Methods:
- A retrospective, population-based case-control study utilized Swedish nationwide registers.
- Included 51,778 individuals with CHD and 522,543 matched controls born between 1987 and 2017.
- Logistic regression analyzed recurrence risks (ORs) in parents, siblings (full and half), and offspring, adjusting for maternal comorbidities.
Main Results:
- An affected relative increased CHD odds by 2.71 (95% CI 2.60-2.83), with risk escalating per additional affected family member (OR 2.55).
- Recurrence was highest for mothers (OR 3.12), full siblings (OR 3.22), and offspring (OR 3.18), with lower risks for fathers and half-siblings.
- Maternal comorbidities did not explain the association between maternal CHD and offspring CHD.
Conclusions:
- Familial occurrence of congenital heart defect (CHD) in a relative (parent, sibling, offspring) is a significant risk factor for CHD in an individual.
- Recurrence patterns vary by specific kinship and the number of affected relatives, indicating complex genetic and environmental influences.
- These findings are vital for informing genetic counseling and reproductive planning for families with a history of CHD.
Background And Aims:
Congenital heart defects (CHD) aggregate in families, but recurrence patterns across kinships and generations remain incompletely understood. In light of improved survival and diagnostic precision, updated population-based estimates are needed. This study aimed to investigate familial recurrence patterns of CHD among relatives using nationwide Swedish register data.
Methods:
A retrospective, population-based case-control study was conducted, including 51 778 individuals with CHD born between 1987 and 2017 and 522 543 matched controls. Relatives (parents, full siblings, half-siblings, and offspring) were identified through linkage to national health and population registers. Logistic regression with robust standard errors clustered on maternal ID was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs). Dose-response relationships, kinship-specific associations, and interactions with maternal comorbidities (diabetes, hypertension, and obesity) were explored.
Results:
Among individuals with at least one affected relative, the OR for CHD was 2.71 (95% CI 2.60-2.83), increasing with each additional affected relative (OR per relative 2.55; 95% CI 2.46-2.64). Recurrence was strongest for mothers (OR 3.12), full siblings (OR 3.22), and offspring (OR 3.18) and lower for fathers and half-siblings. A dose-response was observed by number of affected siblings and offspring. The association between maternal CHD and CHD in index individuals was not explained by maternal comorbidities.
Conclusions:
Congenital heart defect in a relative (parent, full or half-siblings, or offspring) is associated with CHD in the index individual, with recurrence patterns varying by kinship and number of affected relatives. These findings may inform genetic counselling and reproductive planning.
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