Positive family history as a risk factor for congenital heart disease

Claire Braybrook

This article has no abstract so we have provided the first paragraph of the full text.

Ostium secundum atrial septal defect (OSASD) occurs as an isolated defect in 10% of individuals with congenital heart disease (CHD). In small nuclear-family studies (parents and siblings), OSASD is reported to recur with a frequency of 4.9%. Caputo et al. investigated whether a positive family history (at least one relative with CHD) is a risk factor for CHD in 583 patients with isolated or non-isolated OSASD (cases) and 408 healthy indivduals (controls). The recurrence risk of CHD was evaluated in first to third degree relatives (parents, siblings, cousins, aunts, uncles and grandparents). Statistical analyses also calculated the influence of each degree of relatedness (first to third) on the familial recurrence of CHD. Among patients with OSASD, 19% had at least one relative with CHD, whereas only 6% of controls had a positive family history of CHD. Familial recurrence of CHD was 23% in patients with isolated OSASD, compared with 13.6% in patients with non-isolated OSASD. In summary, the recurrence of CHD was significantly higher in cases than in controls, for each degree of relatedness. Although consanguinity cannot be excluded in either cases or controls, this study emphasizes the role of genetic factors in the determination of CHD, particularly OSASD. Further assessment of the predictive value of positive family history could lead to selection of families with a predisposition for CHD.

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