Recurrence of Congenital Heart Defects in Families
Recurrence of Congenital Heart Defects in Families
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DOI：
10.1161/circulationaha.109.857987
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发表时间：
2009-07-28
期刊：
影响因子：
37.8
通讯作者：
Melbye, Mads
中科院分区：
文献类型：
--
作者：
Oyen, Nina;Poulsen, Gry;Melbye, Mads
背景：在个体和人群水平上对先天性心脏病（CHD）的家族性贡献的了解很少。我们根据冠心病家族史来估计个人患冠心病的风险，以及冠心病家族史对人群中冠心病病例总数的贡献。方法和结果：在一项国家队列研究中，我们将所有丹麦居民与国家患者登记册、死亡原因登记册、丹麦中央细胞遗传学登记册和丹麦家庭关系数据库联系起来，得出1977年至2005年期间在丹麦出生的1 763 591人，其中18 708人患有冠心病。冠心病患者按表型分类。我们估计了复发风险比和人群归因风险。在一级亲属中，异位的复发风险比为79.1(95%可信区间[CI] 32.9 ~ 190)，孔顶缺损的复发风险比为11.7 (95% CI, 8.0 ~ 17.0)，房室间隔缺损的复发风险比为24.3 (95% CI, 12.2 ~ 48.7)，左室流出道梗阻的复发风险比为12.9 (95% CI, 7.48 ~ 22.2)，右室流出道梗阻的复发风险比为48.6 (95% CI, 27.5 ~ 85.6)，孤立性房间隔缺损的复发风险比为7.1 (95% CI, 4.5 ~ 11.1)，2.2至5.3)孤立性室间隔缺损。相同心脏缺损的总复发风险比为8.15 (95% CI, 6.95 ~ 9.55)，而不同心脏缺损的总复发风险比为2.68 （95% CI, 2.43 ~ 2.97）。人群中只有2.2%的心脏缺陷病例（排除染色体畸变后为4.2%）可归因于一级亲属的冠心病家族史。结论特异性冠心病在一级亲属中表现出高度可变但较强的家族聚集性，与人群患病率相比可达3 ~ 80倍，而不同类型冠心病病例间的交叉风险较弱。一级亲属中有冠心病家族史的占人群中冠心病病例的比例很小。(循环。2009;120:295 - 301)。
Background-Knowledge of the familial contribution to congenital heart diseases (CHD) on an individual and population level is sparse. We estimated an individual's risk of CHD given a family history of CHD, as well as the contribution of CHD family history to the total number of CHD cases in the population.Methods and Results-In a national cohort study, we linked all Danish residents to the National Patient Register, the Causes of Death Register, the Danish Central Cytogenetic Register, and the Danish Family Relations Database, yielding 1 763 591 persons born in Denmark between 1977 and 2005, of whom 18 708 had CHD. Individuals with CHD were classified by phenotype. We estimated recurrence risk ratios and population-attributable risk. Among first-degree relatives, the recurrence risk ratio was 79.1 (95% confidence interval [CI] 32.9 to 190) for heterotaxia, 11.7 (95% CI, 8.0 to 17.0) for conotruncal defects, 24.3 (95% CI, 12.2 to 48.7) for atrioventricular septal defect, 12.9 (95% CI, 7.48 to 22.2) for left ventricular outflow tract obstruction, 48.6 (95% CI, 27.5 to 85.6) for right ventricular outflow tract obstruction, 7.1 (95% CI, 4.5 to 11.1) for isolated atrial septal defect, and 3.4 (95% CI, 2.2 to 5.3) for isolated ventricular septal defect. The overall recurrence risk ratio for the same defect was 8.15 (95% CI, 6.95 to 9.55), whereas it was 2.68 (95% CI, 2.43 to 2.97) for different heart defects. Only 2.2% of heart defect cases in the population (4.2% after the exclusion of chromosomal aberrations) were attributed to CHD family history in first-degree relatives.Conclusions-Specific CHDs showed highly variable but strong familial clustering in first-degree relatives, ranging from 3-fold to 80-fold compared with the population prevalence, whereas the crossover risks between dissimilar cases of CHD were weaker. Family history of any CHD among first-degree relatives accounted for a small proportion of CHD cases in the population. (Circulation. 2009;120:295-301.)