Familial thoracic aortic dilatations and dissections: A case control study
Familial thoracic aortic dilatations and dissections: A case control study
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DOI：
10.1016/s0741-5214(97)70261-1
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发表时间：
1997-03-01
影响因子：
4.3
通讯作者：
Milewicz, DM
中科院分区：
文献类型：
--
作者：
Biddinger, A;Rocklin, M;Milewicz, DM
目的：通过证明疾病的家族聚集性可以获得表明遗传因素导致常见疾病发生的证据。本研究通过比较转诊接受胸主动脉手术的患者一级亲属的胸主动脉瘤、胸主动脉夹层和猝死的患病率，调查胸主动脉扩张和夹层是否在家庭中聚集。方法：通过转诊接受胸主动脉瘤或夹层手术矫正的 158 名非综合征患者来确定家庭情况（先证者）及其 843 名一级亲属。对照组由 547 名一级亲属组成，来自 114 名先证者配偶。检查各组胸主动脉瘤、胸主动脉夹层、腹主动脉瘤、猝死和心肌梗死患病率的统计差异。结果：与对照组相比，先证者的一级亲属表现出更高的胸主动脉瘤和猝死患病率。先证者的父亲、兄弟和姐妹发生胸主动脉瘤的相对风险分别为 1.8、10.9 和 1.8。无法确定胸主动脉瘤的遗传模式。结论：本研究表明，与对照组相比，先证者一级亲属患胸主动脉瘤和猝死的风险更高。这项研究支持遗传因素在胸主动脉瘤病因中的作用，并为识别高危个体提供了重要信息。
Purpose: Evidence suggesting that genetic factors contribute to the development of common disorders can be obtained by demonstrating familial aggregation of the disease. This study investigated whether thoracic aortic dilations and dissections aggregate in families by comparing the prevalence of thoracic aortic aneurysms, thoracic aortic dissections, and sudden death in first-degree relatives of patients referred for thoracic aortic Surgery.Methods: Families were ascertained through 158 nonsyndromic patients referred for surgical correction of either thoracic aortic aneurysms or dissections (probands) and their 843 first-degree relatives. A control group of 547 first-degree relatives was derived from 114 proband spouses. Groups were examined for statistical differences in the prevalence of thoracic aneurysms, thoracic aortic dissections, abdominal aortic aneurysms, sudden death, and myocardial infarctions.Results: First-degree relatives of probands demonstrated a higher prevalence of thoracic aortic aneurysms and sudden death when compared with the control group. Relative risks of thoracic aortic aneurysm development in proband fathers, brothers, and sisters were 1.8, 10.9, and 1.8, respectively. A pattern of inheritance of the thoracic aortic aneurysms could not be determined.Conclusions: This study indicates proband first-degree relatives are at higher risk of thoracic aortic aneurysms and sudden death compared with a control group. This study supports the role of genetic factors in the cause of thoracic aortic aneurysms and provides important information for identifying individuals at risk.