Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry.
Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry.
复制标题
二叶式和单叶式主动脉瓣：同一疾病的不同表型？
DOI：
10.1111/chd.12520
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发表时间：
2017
影响因子：
0.3
通讯作者：
Pre
中科院分区：
文献类型：
--
作者：
Krepp,JosephM;Roman,MaryJ;Devereux,RichardB;Bruce,Adrienne;Prakash,SiddharthK;Morris,ShaineA;Milewicz,DiannaM;Holmes,KathrynW;Ravekes,William;Shohet,RalphV;Pyeritz,ReedE;Maslen,CherylL;Kroner,BarbaraL;Eagle,KimA;Pre
研究背景：单叶主动脉瓣（UAV）是一种少见的疾病，与二叶主动脉瓣（BAV）很难鉴别。BAV和无人驾驶飞机共享的瓣膜病理，如存在的缝，小叶融合，主动脉瓣狭窄，主动脉瓣返流，和/或升主动脉扩张，但一个全面的超声心动图比较患者与无人驾驶飞机和BAV还没有以前performed.MethodsWe调查无人驾驶飞机和BAV患者在疾病的早期阶段，包括在GenTAC，一个国家登记处的遗传相关的主动脉瘤和相关的心脏疾病。比较了17例UAV患者和17例BAV患者的临床和超声心动图数据。结果BAV和UAV患者之间的基线特征（包括人口统计学特征）、临床结果（包括BAV家族史和主动脉瘤/缩窄）和超声心动图变量相似; UAV患者的主动脉瓣狭窄更常见且更严重。平均和峰值压差更高，主动脉瓣面积更小，瓣膜退行性变更严重（均P <0.05）。有没有显着差异，主动脉的尺寸，具有类似的模式，扩大的升aortic.ConclusionsThe加速主动脉瓣退化和狭窄的类似的基线特征表明，无人驾驶飞机是一个极端的频谱BAV综合征。因此，考虑将BAV患者的管理建议应用于罕见UAV患者是合理的。
BackgroundUnicuspid aortic valve (UAV) is a rare disorder, often difficult to distinguish from bicuspid aortic valve (BAV). BAV and UAV share valve pathology such as the presence of a raphe, leaflet fusion, aortic stenosis, aortic regurgitation, and/or ascending aortic dilatation, but a comprehensive echocardiographic comparison of patients with UAV and BAV has not been previously performed.MethodsWe investigated UAV and BAV patients at an early stage of disease included in GenTAC, a national registry of genetically related aortic aneurysms and associated cardiac conditions. Clinical and echocardiographic data from the GenTAC Registry were compared between 17 patients with UAV and 17 matched‐controls with BAV.ResultsBaseline characteristics including demographics, clinical findings including family history of BAV and aortic aneurysm/coarctation, and echocardiographic variables were similar between BAV and UAV patients; aortic stenosis was more common and more severe in patients with UAV. This was evidenced by higher mean and peak gradient, smaller aortic valve area, and more advanced valvular degeneration (allP< .05). There were no significant differences in aortic dimensions, with a similar pattern of enlargement of the ascending aorta.ConclusionsThe similar baseline characteristics with more accelerated aortic valve degeneration and stenosis suggest that UAV represents an extreme in the spectrum of BAV syndromes. Therefore, it is reasonable to consider application of recommendations for the management of patients with BAV to those with the rarer UAV.