超声心动图评价二瓣化主动脉瓣瓣膜功能

目的 探讨超声心动图在二瓣化主动脉瓣病理生理进展评价中的应用,分析二瓣化主动脉瓣各年龄瓣膜病变的程度.方法 回顾性分析135例二瓣化主动脉瓣患者超声资料及病例资料,结合临床资料分析患者病程进展中瓣膜功能的变化.结果 二瓣化主动脉瓣关闭不全最常见,本组资料中为68例(50%),单纯狭窄仅19例(14%).狭窄并关闭不全者29例(22%),瓣膜功能正常者19例(14%).各年龄组内主动脉瓣病变均以关闭不全多见.病程晚期的手术患者各年龄组内主动脉病变亦均以关闭不全为主.结论 超声心动图能对主动脉瓣的病变作出早期诊断.二瓣化主动脉瓣最常见的瓣膜病变是主动脉瓣关闭不全.     

超声心动图评价二瓣化主动脉瓣瓣膜功能

目的 探讨超声心动图在二瓣化主动脉瓣病理生理进展评价中的应用,分析二瓣化主动脉瓣各年龄瓣膜病变的程度.方法 回顾性分析135例二瓣化主动脉瓣患者超声资料及病例资料,结合临床资料分析患者病程进展中瓣膜功能的变化.结果 二瓣化主动脉瓣关闭不全最常见,本组资料中为68例(50%),单纯狭窄仅19例(14%).狭窄并关闭不全者29例(22%),瓣膜功能正常者19例(14%).各年龄组内主动脉瓣病变均以关闭不全多见.病程晚期的手术患者各年龄组内主动脉病变亦均以关闭不全为主.结论 超声心动图能对主动脉瓣的病变作出早期诊断.二瓣化主动脉瓣最常见的瓣膜病变是主动脉瓣关闭不全.     

The significance of aortic valve calcification in patients with bicuspid aortic valve disease

Bicuspid aortic valve (BAV) is a common congenital heart disease. Our study was to analyze clinical features of BAV and evaluate whether aortic valve calcium score (AVCS) was a reliable marker for aortic stenosis (AS) in patients with BAV. 101 patients with BAV who both underwent echocardiology and cardiac computed tomography (CT) scan in our institution were included. Basic clinical data, haemodynamic feature, aortic valve and coronary calcium score were collected and compared among patients with different valve function and different degree of AS. Risk factors related to severe AS were evaluated by logistic regression, and a receiver operative characteristic curve was used to determine the cutoff calcium score greater than which the diagnosis of severe AS was optimized. Patients with aortic regurgitation (AR) were younger and demonstrated larger aortic annulus and sinus compared with patients with other valve dysfunction. Aortic valve calcium score was higher in patients with AS than with AR. For patients with different degree of AS, there were statistical significances in the value of age, aortic valve calcium score and coronary calcium score. AVCS was positively related to severe AS with an odd ratio of 1.286 (95 % CI 1.099–1.504) by every 300 points increase. AVCS was also a strong predictor for severe AS with area under the curve 0.855 with a cutoff value of 897 (sensitivity 86.7 %, specificity 72.2 %). Conclusively, aortic calcium score calculated by quantitative CT is a reliable marker in evaluating severity of AS.     

先天二叶式主动脉瓣畸形合并二尖瓣反流病因分析

目的 探讨先天二叶式主动脉瓣畸形(BAV)患者发生二尖瓣反流的病因和危险因素.方法 对2011年1月至2016年6月在复旦大学附属中山医院确诊为BAV患者的超声心动图数据进行横断面分析.结果 4352例BAV患者中,中至重度二尖瓣反流256例(5.9％),其中195例(76.2％)为男性、206例(80.5％)伴有中至...     

不同Sievers分型二叶主动脉瓣超声特征

目的 观察不同Sievers分型二叶主动脉瓣（BAV）患者的超声心动图表现特征。方法 回顾性分析121例BAV患者的临床及超声心动图检查资料。Sievers分型分为0型（无嵴）、1型（有一嵴）和2型（有双嵴）,其中1型分为3个亚型：1（L-R）亚型（左冠瓣与右冠瓣融合）,1（R-N）亚型（右冠瓣与无冠瓣融合）,1（N-L）亚型（左冠瓣与无冠瓣融合）。比较不同Sievers分型BVA患者主动脉内径超声测量值。结果 121例中,3例（3/121,2.48%） Sievers分型为0型;118例（118/121,97.52%）为1型,其中1（L-R）亚型80例（80/121,66.12%）,1（R-N）亚型33例（33/121,27.27%）,1（N-L）亚型5例（5/121,4.13%）;无2型患者。1（R-N）亚型主动脉瓣环及窦部内径均小于1（L-R）亚型（P=0.01、0.02）,1（L-R）、1（R-N）及1（N-L）亚型间主动脉瓣环、窦部、窦管结合部及升主动脉近端内径差异均无统计学意义（P均>0.05）。结论 Sievers分型为1（L-R）亚型在BAV患者中最常见,且超声心动图所见主动脉瓣环及窦部扩张较1（R-N）亚型更明显。     

超声诊断二叶主动脉瓣合并感染性心内膜炎

目的 观察经胸超声心动图（TTE）和三维经食管超声心动图（3D-TEE）诊断二叶主动脉瓣（BAV）合并感染性心内膜炎（IE）的价值。方法 回顾性分析53例BAV合并IE患者的超声图像，超声表现包括赘生物、瓣膜穿孔、脓肿和瘘道。以外科手术所见作为金标准，评估TTE和3D-TEE的超声特征及其诊断价值。结果 3D-TEE检出赘生物、瓣膜穿孔、脓肿和瘘道的敏感度（100% vs.90.20%，96.87% vs.90.62%，92.86% vs.67.86%，94.12% vs.70.59%）和阳性预测值均高于TTE（100% vs.95.83%，100% vs.93.55%，96.30% vs.86.36%，100% vs.85.71%，P均<0.05）。结论 超声心动图对于BAV合并IE的总体检出率高。3D-TEE的可视性和空间分辨率比TTE更好，诊断BAV合并IE敏感度和阳性预测值更高。     

超声心动图在二叶式主动脉瓣患者随访和预后分析中的应用

目的 探讨超声心动图在二叶式主动脉瓣畸形(BAV)患者随访和预后分析中的应用价值。方法 本研究为单中心回顾性临床研究。收集南京医科大学第一附属医院2013年1月至2019年12月经超声心动图诊断为 “二叶式主动脉瓣畸形”、临床资料和复查随访资料完整的患者,比较不同随访时长患者的占比,比较初诊和随访末次的瓣膜功能、主动脉功能变化情况,进一步纳入性别、年龄、形态学分型、主动脉瓣狭窄程度、返流程度、升主动脉内径等参数进行回归分析,寻找影响BAV预后的危险因素。结果 本研究共筛1154例BAV,纳入随访资料完整者243位(21.06%),随访逐渐延长,随访患者逐渐减少,而主动脉瓣功能障碍逐渐恶化、升主动脉内径逐渐增宽;初诊时年龄、初诊时AS程度、初诊时AR程度是BAV需要手术干预事件发生的相关危险因素;且年龄是影响预后的独立危险因素,其截断值为36岁,对是否发生手术时间预测的灵敏度为94.29%,特异度为39.49%;年龄≤36岁组5年内不发生手术事件的概率为92.39%;而年龄＞36岁组5年内不发生手术事件的概率仅为52.20%。结论 我国BAV人群随访率低;BAV引起的瓣膜功能障碍和升主动脉增宽具有时间累积效应;针对36岁以上BAV群体,尤应加强宣传教育,并建议每年连续随访心超以指导治疗。     

彩色多普勒超声诊断先天性二叶式主动脉瓣

先天性二叶式主动脉瓣(congenital bicuspid aortic valve, CBAV)是一种常见的先天性瓣膜畸形,尸检发生率约1%～2%,男多于女~([1]).该病临床易误诊、漏诊,而超声对其可迅速、准确做出诊断.     

Clinical insights into a tertiary care center cohort of patients with bicuspid aortic valve

The International Journal of Cardiovascular Imaging - Although bicuspid aortic valve (BAV) is one of the most common congenital heart diseases, clinical data associated with valve dysfunction are...     

二叶式主动脉瓣主动脉病变相关基因突变者的影像学特征与遗传学分析

目的探讨主动脉病变相关基因与二叶式主动脉瓣(BAV)相关性主动脉病变的关系。方法选取行Bentall手术并检测到主动脉病变相关基因突变的8例BAV患者,应用超声心动图评估其BAV分型、瓣膜功能及升主动脉内径等指标;收集其外周血并对主动脉疾病相关基因进行筛查,对变异进行致病性预测;记录患者一般临床参数及实验室检查结果。结果 8例患者中5例主动脉最宽处位于升主动脉管部,3例位于主动脉窦部。2例以主动脉瓣狭窄表现为主,5例以主动脉瓣关闭不全表现为主,1例主动脉瓣狭窄与关闭不全程度相当。4例患者FBN1基因突变(分别为c.2926C>Tp.Arg976Cys、c.2374T>Cp.Cys792Arg、c.2639G>Ap.Gly880Asp、c.6700G>Ap.Val2234Met),2例COL3A1基因突变(分别为c.2190A>Tp.GLU730Asp、c.2181G>Ap.Met727Ile),1例MYLK基因突变(c.1414C>Tp.Leu472Phe),1例TGFBR1基因突变(c.134A>Gp.Asn45Ser)。8例患者中1例FBN1基因突变患者为Sievers0型BAV,余7例均为SieversⅠ型BAV,其中RL亚型6例,RN亚型1例。3例FBN1基因突变患者(c.2926C>Tp.Arg976Cys,c.2374T>Cp.Cys792Arg,c.2639G>Ap.Gly880Asp)经3个突变评价软件预测均为可能致病性突变,该3例患者胸主动脉最大径显著高于其他患者。结论基因变异相关的解剖结构异常及主动脉瓣功能改变所引起的血流动力学变化可能共同导致了BAV患者不同类型的主动脉病变。     

基于超声心动图观察儿童单纯二叶式主动脉瓣

目的 基于超声心动图观察儿童单纯二叶式主动脉瓣(i-BAV)表现。方法 回顾性分析79例i-BAV患儿超声心动图,观察其i-BAV分型;根据有无瓣膜和/或主动脉受累分为并发症组(n=50)与无并发症组(n=29),比较组间超声心动图参数。结果 经体表面积(BSA)校正后,并发症组左心室收缩末期内径/BSA低于、而左心室心肌质量指数高于无并发症组(P均＜0.05)。79例中,Type 0型22例、以lat亚型最多见(18/22,81.82%),Type Ⅰ型57例、以L-R亚型最多见(39/57,68.42%)。并发症组以Type Ⅰ L-R亚型最多见(31/50,62.00%);瓣膜受累发生率为90.00%(45/50),以轻度主动脉瓣狭窄和/或关闭不全为主(37/45,82.22%);主动脉受累发生率为24.00%(12/50),均表现为Ⅰ、Ⅱ型主动脉增宽。结论 儿童i-BAV最常见分型为Type Ⅰ L-R亚型,以轻度瓣膜损害为主要并发症,可存在左心室心肌重构。     

Impact of asymmetry on measurements of the aortic root using cardiovascular magnetic resonance imaging in patients with a bicuspid aortic valve

To assess the impact of aortic root asymmetry on the relationship between aortic dimensions derived from two-dimensional transthoracic echocardiography (TTE) as compared with cross-sectional cardiovascular magnetic resonance (CMR) imaging in adults with a bicuspid aortic valve (BAV). Maximal CMR cross-sectional aortic measurements at the level of the sinuses of Valsalva, including cusp–commissure, cusp–cusp diameters and aortic root areas, from 68 consecutive patients (65 % male) were retrospectively analyzed. The degree of aortic root asymmetry on CMR was expressed using the coefficient of variance of the root diameters in each dimension for an individual (CoeffVi) as compared with the median of the entire population (CoeffVp) and asymmetry was defined as CoeffVi > CoeffVp. Values obtained from CMR were compared with standard root measurements using TTE from contemporary studies (48 patients, 71 %). Reproducibility of CMR measurements was assessed using the intra-class correlation coefficient (ICC). Echocardiography systematically underestimated aortic root dimensions in comparison with CMR, particularly in asymmetric roots with cusp–cusp measurements in systole (bias: ?4.9 mm). Best agreement between modalities existed in symmetric roots with cusp–commissure measurements in diastole (bias: ?0.01 mm). CMR measurements showed excellent intra-reader (ICC ≥ 0.98) and moderate inter-reader (ICC range 0.37–0.95) reproducibility, particularly aortic root area (inter/intra-reader ICC ≥ 0.94). In comparison to cross-sectional CMR diameters, standard TTE measurements consistently underestimates maximum aortic root diameter in adults with a BAV and aortic root asymmetry further decreases the agreement between CMR and TTE. CMR-derived aortic root measurements are reproducible and aortic root area showed the best reproducibility.     

Aortic strain in bicuspid aortic valve: an analysis

The International Journal of Cardiovascular Imaging - Bicuspid aortic valve (BAV) is monitored by transthoracic echocardiography and computed tomography (CT) angiography. However, it does not have...     

心肌分层应变评估二叶式主动脉瓣畸形左室收缩功能的可行性研究

目的探讨超声心动图心肌分层应变评估二叶式主动脉瓣畸形患者亚临床心肌损害的可行性。方法选择左室射血分数(LVEF)正常的二叶式主动脉瓣畸形患者104例,根据是否伴有瓣膜功能异常分为瓣膜功能正常者44例(A组)和瓣膜功能异常者60例(B组),另选50例健康志愿者为对照组。比较各组一般资料、常规超声心动图参数及心肌分层应变参数。随机选取20例患者进行观察者内和观察者间的重复性分析。结果 B组平均年龄明显高于A组,差异有统计学意义(P<0.05);B组左室舒张末内径和升主动脉内径均较A组及对照组明显增大,差异均有统计学意义(均P<0.05)。A组全层心肌收缩期整体纵向应变峰值(LSavg)、外层心肌收缩期纵向应变峰值(LSepi)、内层心肌收缩期纵向应变峰值(LSendo)均较对照组明显减小,差异均有统计学意义(均P<0.05);B组LSavg、LSepi、中层心肌收缩期纵向应变峰值、全层心肌收缩期整体圆周应变峰值、外层心肌收缩期圆周应变峰值、中层心肌收缩期圆周应变峰值均较对照组和A组明显减小,差异均有统计学意义(均P<0.05);B组LSendo、内层心肌收缩期圆周应变峰值均较对照组明显减小,差异均有统计学意义(均P<0.05)。心肌分层应变评估左室心肌整体全层、各层心动周期纵向应变峰值及圆周应变峰值观察者内部和观察者间一致性限度为-6.0%~5.0%,组内相关系数均≥0.80。结论应用超声心动图心肌分层应变评估LVEF正常的二叶式主动脉瓣畸形左室外层及内层纵向应变峰值,有利于早期检出亚临床心肌损害。     

二叶式主动脉瓣畸形相关GATA5基因突变谱分析

目的分析先天性二叶式主动脉瓣畸形(BAV)相关GATA5基因突变谱。方法收集150例先天性BAV患者和200名健康对照者的临床资料和血标本,使用DNA纯化试剂盒抽提基因组DNA。通过聚合酶链反应扩增GATA5基因的编码区和剪接点,采用双脱氧核苷链末端合成终止法测序,将所测序列与GenBank数据库中的GATA5基因序列进行比对以发现GATA5基因突变。分别应用在线软件MUSCLE和MutationTaster评估突变氨基酸的保守性和致病性。结果在2例先天性BAV患者各发现1个新的GATA5基因杂合突变,即p.M219I和p.T289I,突变率约为1.33%。这2种突变均不存在于200名健康对照者中。多序列比对显示被改变氨基酸在进化上均完全保守,致病性预测表明这2种突变均具有致病性。结论发现BAV相关GATA5基因新突变,有助于揭示BAV新的分子机制。     

Less pronounced reverse left ventricular remodeling in patients with bicuspid aortic stenosis treated with transcatheter aortic valve replacement compared to tricuspid aortic stenosis

To compare reverse left ventricular (LV) remodeling after transcatheter aortic valve replacement (TAVR) between patients with bicuspid aortic valve (BAV) and tricuspid aortic valve (TAV). We retrospectively reviewed data of patients with at least two serial echocardiographic follow-ups (1, 3, 6 months and 1 year) post-TAVR. A total of 116 patients were identified. BAV morphology was documented in 67 patients. LV mass index (LVMi) at baseline was not significantly different between the TAV and BAV group (178.0?±?6.9 vs. 166.3?±?6.4 g/m², P?=?0.14). Reverse LV remodeling was observed in both BAV and TAV patients, but the reduction of LVMi from baseline was significantly more pronounced in TAV patients compared with BAV patients from 6 months post-TAVR (??56.3?±?8.1 vs. ??30.0?±?4.7 g/m², P?<?0.01 at 6-month follow-up; ??60.6?±?7.6 vs. ??37.9?±?6.2 g/m², P?=?0.02 at 1-year follow-up). EDV value changes during follow-up were similar between patient with TAV and BAV. There were no significant differences in the proportions of patients with more than mild PVL or new permanent pacemaker between TAV and BAV morphology throughout the follow-up. Patients with bicuspid morphology might experience less pronounced reverse LV remodeling post-TAVR than patients with tricuspid morphology.     

实时三维超声心动图诊断二叶主动脉瓣畸形

目的 探讨实时三维超声心动图(RT-3DE)评价二叶主动脉瓣(BAV)畸形的应用价值。 方法 应用经胸二维超声心动图(2DE)和RT-3DE对41例BAV患者进行诊断,并与手术结果对照。 结果 经RT-3DE检查的41例患者与手术结果一致,其中横裂式25例、纵裂式10例、斜裂式6例;经2DE检查的30例患者与手术结果一致。2例患者2DE观察不清晰的赘生物,RT-3DE显示为附着于主动脉瓣叶心室面的赘生物。 结论 RT-3DE能够快速、直观、准确显示瓣膜结构,在BAV的诊断中可获得较2DE更丰富的空间信息,具有重要应用价值。     

Anatomic three-dimensional echocardiographic correlation of bicuspid aortic valve.

This study was undertaken to verify the echocardiographic characteristics of bicuspid aortic valve (AV) using 3-dimensional transesophageal echocardiography by comparing the findings with anatomic examination of autopsy specimens from carriers of this condition. Three-dimensional reconstructions of transesophageal echocardiograms were performed on 14 patients with bicuspid AV, and 20 autopsy specimens of bicuspid AVs were analyzed. Echocardiographic images and autopsy material were correlated. Two variants of bicuspid aorta were identified. In group I the AV had 2 leaflets. This group included 9 (9/14) 3-dimensional echocardiographic studies and 13 (13/20) necropsies. In group II 3 sigmoid leaflets had originally developed and 2 underwent dysplastic fusion, resulting in functionally bicuspid valves. Five (5/14) echocardiographic studies and 7 (7/20) anatomic specimens fell into this category. There was a clear correspondence between anatomic and echocardiographic findings, which leads to the conclusion that 3-dimensional echocardiography is a technique that reliably defines the morphological details of bicuspid AV with the precision of anatomopathologic examination.