Circulation Journal
Online ISSN : 1347-4820
Print ISSN : 1346-9843
ISSN-L : 1346-9843
Pediatric Cardiology and Adult Congenital Heart Disease
Familial Aggregation and Heritability of Congenital Heart Defects
Chang-Fu KuoYu-Sheng LinShang-Hung ChangI-Jun ChouShue-Fen LuoLai-Chu SeeKuang-Hui YuLu-Shuang HuangPao-Hsien Chu
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2018 Volume 82 Issue 1 Pages 232-238

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Abstract

Background:Congenital heart defects (CHD) are known to cluster within families, but existing evidence varies for the estimates of familial relative risk (RR). We aimed to examine familial aggregation and heritability of CHD in the general population of Taiwan.

Methods and Results:We conducted a population-based family study using the Taiwan National Health Insurance (NHI) research database. Individuals with affected first-degree (n=295,636) or second-degree (n=73,985) relatives were identified from all NHI beneficiaries (n=23,422,955) registered in 2012. Diagnoses of CHD for all study subjects were ascertained between January 1, 1996 and December 31, 2012. Having a twin, a first-degree relative and an affected second-degree relative were associated with an adjusted RR of 12.03 (11.59–12.49), 4.91 (4.85–4.97) and 1.21 (1.14–1.28) for CHD, respectively. Individuals with 1 affected first-degree relative had a RR of 4.78 (4.72–4.84), and those with ≥2 had an RR of 7.10 (6.77–7.45) for CHD. The estimated accountability for phenotypic variance of CHD was 37.3% for familial transmission and 62.8% for non-shared environmental factors.

Conclusions:Our results indicated that CHD tend to cluster within families, and approximately one-third of phenotypic variance was explained by familial factors.

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© 2018 THE JAPANESE CIRCULATION SOCIETY
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