基于人群的孤立性房间隔缺损患者家族遗传及神经合并症评估

Population-based assessment of familial inheritance and neurologic comorbidities among patients with an isolated atrial septal defect.

作者信息

Steenblik Matthew H, Mineau Geraldine P, Pimentel Richard, Michaels Andrew D

机构信息

Department of Medicine, University of Utah, Salt Lake City, Ut., USA.

出版信息

Congenit Heart Dis. 2009 Nov-Dec;4(6):459-63. doi: 10.1111/j.1747-0803.2009.00340.x.

DOI:10.1111/j.1747-0803.2009.00340.x

PMID:19925540

Abstract

BACKGROUND

Interatrial shunts, caused by either atrial septal defect (ASD) or patent foramen ovale, have been reported to have a familial association. We sought to examine the familial risk of isolated interatrial shunt and explore associated comorbidities of stroke, transient ischemic attack (TIA), and migraine using a population database.

METHODS

The Utah Population Database is linked to inpatient and outpatient records from the University of Utah Health Science Center. Patients with an interatrial shunt were identified, and those with any other form of congenital heart disease or an inheritable syndrome associated with ASD were excluded. Of the 9452 individuals diagnosed with isolated interatrial shunt, 6179 (65%) had sufficient familial and follow-up data for analysis. Five age/gender matched controls were randomly selected per case. Cases and their relatives were compared with controls to assess the relative risk for each comorbid condition.

RESULTS

Relatives of interatrial shunt cases had an increased risk for interatrial shunt: siblings relative risk (RR) 6.98 (95% confidence interval [CI] 5.75-8.48; P < 1.0 x 10(-16)), first-degree RR 5.64 (95% CI 4.76-6.68; P < 1.0 x 10(-16)), and second-degree RR 1.75 (95% CI 1.32-2.32; P= 0.0001). Patients with interatrial shunt were more likely to have a comorbid condition compared with controls (RR 21.3, 95% CI 17.1-26.5; P < 1.0 x 10(-16)). First-degree relatives of cases had an increased risk of TIA (RR 1.70, 95% CI 1.18-2.45; P= 0.0045), but no increase risk of stroke or migraine compared with controls.

CONCLUSIONS

There is a strong familial inheritance pattern for isolated interatrial shunt, with significantly higher risk of interatrial shunt among affected patients' siblings, first-, and second-degree relatives. Relatives of affected individuals also had a higher risk of TIA, a trend toward an increased risk for stroke, but no increased risk of migraine headache.

摘要

背景

据报道，由房间隔缺损（ASD）或卵圆孔未闭引起的房间隔分流具有家族关联性。我们试图利用一个人口数据库来研究孤立性房间隔分流的家族风险，并探讨中风、短暂性脑缺血发作（TIA）和偏头痛的相关合并症。

方法

犹他州人口数据库与犹他大学健康科学中心的住院和门诊记录相链接。识别出患有房间隔分流的患者，并排除患有任何其他形式先天性心脏病或与ASD相关的可遗传综合征的患者。在9452例被诊断为孤立性房间隔分流的个体中，6179例（65%）有足够的家族和随访数据用于分析。每例患者随机选取5名年龄/性别匹配的对照。将病例及其亲属与对照进行比较，以评估每种合并症的相对风险。

结果

房间隔分流病例的亲属患房间隔分流的风险增加：兄弟姐妹的相对风险（RR）为6.98（95%置信区间[CI]5.75 - 8.48；P < 1.0×10⁻¹⁶），一级亲属RR为5.64（95%CI 4.76 - 6.68；P < 1.0×10⁻¹⁶），二级亲属RR为1.75（95%CI 1.32 - 2.32；P = 0.0001）。与对照相比，房间隔分流患者更有可能患有合并症（RR 21.3，95%CI 17.1 - 26.5；P < 1.0×10⁻¹⁶）。病例的一级亲属患TIA的风险增加（RR 1.70，95%CI 1.18 - 2.45；P = 0.0045），但与对照相比，中风或偏头痛的风险没有增加。