Role of echocardiography in the diagnosis and management of asymptomatic severe aortic stenosis

Calcification of normal tricuspid and congenital bicuspid valves is the most common cause of aortic stenosis in industrialized countries. There is compelling evidence that thickening and calcification in aortic valve disease is a complex inflammatory process and not simply age-related degeneration. Both aortic sclerosis and stenosis represent phenotypic expressions of one disease continuum. Patients with symptomatic severe aortic stenosis benefit from aortic valve replacement. However, management in the absence of symptoms remains challenging. While a delay of aortic valve replacement due to lack of symptom recognition may result in a dismal outcome, unselected premature aortic valve replacement may be associated with unbalanced risks of cardiac surgery. Echocardiography is the standard for evaluating the severity of aortic stenosis; however, most of the current echocardiographic parameters have limitations in predicting the onset of symptoms. This review summarizes the current guidelines and the emerging application of echocardiographic techniques in the management of asymptomatic severe aortic stenosis.     

Congenital bicuspid aortic valve enodocarditis with multiple subvalvular complications and an acquired membranous ventricular septal defect.

We report a case with echocardiographic demonstration of native congenital bicuspid aortic valve endocarditis with multiple subaortic complications. Transesophageal echocardiography in this case revealed large vegetations with multiloculated aortic paravalvular abscess around the cusps; a high-acquired restrictive membranous ventricular septal defect with vegetations extending to the tricuspid leaflets and paravalvular aortic regurgitation caused by aortic leaflet perforation.     

Distinctive neck swelling in a patient with a vein of Galen arteriovenous malformation

A vein of Galen arteriovenous malformation (VGAM) is a rare intracranial shunt lacking a capillary bed and resulting in subsequent aneurysmal enlargement. VGAM has been previously reported to present as cardiovascular abnormalities, including increased right-sided cardiac load and pressure, cardiac dilatation, pulmonary hypertension and retrograde flow into the aortic arch. We report the first case of VGAM presenting as a gross right-sided neck swelling in a 39-week-old immediately at birth. Transthoracic echocardiography detected dilatation of the superior vena cava and innominate vein, increased right ventricular and pulmonary arterial pressure, and retrograde flow into the aortic arch. Follow-up neck ultrasound revealed tortuous carotid artery and bilateral dilatation of neck veins. Transcranial ultrasound revealed abnormally dilated vessels posterior to the third ventricle, confirming VGAM. Our case demonstrates that while the differential diagnoses of neck swelling are extensive, such a presentation upon Doppler and echocardiographic investigation, may be suggestive of extracardiac causes such as VGAM. The management of such a condition remains critical due to risk of hemorrhage and extensive cerebral involvement.     

二叶式主动脉瓣畸形的超声心动图诊断价值

目的 探讨彩色多普勒超声心动图诊断主动脉瓣二叶畸形的价值.方法 采用二维和彩色多普勒技术观察46例主动脉瓣二叶畸形,重点于左室长轴及大动脉短轴切面观察主动脉瓣的数目、形态、活动及血流动力学状态.结果 先天性二叶式主动脉瓣畸形在大动脉短轴切面显示为两个瓣叶及两个瓣叶附着点,呈"="字型排列.46例二叶式主动脉瓣畸形中,有44例合并主动脉瓣反流(96%),20例合并主动脉瓣狭窄(43%),23例合并升主动脉扩张(50%),6例并发其他先天性心脏畸形(13%).结论 彩色多普勒超声心动图是诊断二叶式主动脉瓣畸形的较好方法,对明确诊断该病及选择相应的治疗方案有重要意义.     

Double-Trouble Doppler: Reduction in Aortic Flow Due to Combined Left Ventricular Outflow Tract Obstruction and Severe Aortic Stenosis, Complete Diagnosis by Transthoracic Doppler Echocardiography

In patients with hypertrophic obstructive cardiomyopathy and dynamic left ventricular outflow tract obstructions, an additional fixed obstruction may uncommonly coexist. In these situations, flow through the aortic valve is usually delayed but typically still throughout the entire ejection period. We describe a case of marked reduction in aortic flow during mid and late systole, diagnosed by Doppler echocardiography, caused by combined hypertrophic obstructive cardiomyopathy and severe calcific bicuspid aortic stenosis.     

超声心动图对主动脉瓣下狭窄的诊断价值

目的 探讨超声心动图对主动脉瓣下狭窄(SAS)及其合并畸形的诊断价值.方法 回顾分析16例主动脉瓣下狭窄及其合并畸形患者的超声心动图特征.结果 16例患者于主动脉瓣下左室流出道见线性稍强回声12例,肥厚的肌性结构4例,凸向左室流出道,致其变窄,收缩期血流呈五彩镶嵌的高速湍流信号,连续多普勒测得高速湍流频谱,峰速2.1～6.3m/s,压差18～160 mm Hg;合并畸形依次为室间隔缺损6例,动脉导管未闭3例,右室双出口或主动脉瓣二瓣化畸形各2例,主动脉瓣狭窄、法洛四联症、大动脉转位及右冠窦瘤破入右室各1例.结论 超声心动图能对主动脉瓣下狭窄进行形态学及血流动力学的综合评估,进而指导临床治疗.     

A case of unicuspid aortic valve associated with a single coronary artery and ventricular septal defect

The patient was a 26-year-old man who had undergone patch closure of a ventricular septal defect at 2 years of age. After this surgery, his condition was satisfactory until he visited our hospital for treatment of paroxysmal supraventricular tachycardia in November 2000. Echocardiography revealed moderate to severe aortic valve regurgitation and dilatation of the left ventricle and ascending aorta. These echocardiographic abnormalities were attributed to a bicuspid aortic valve. Coronary angiography suggested the presence of a single coronary artery originating from the left Valsalva sinus. We performed Bentall’s operation in January 2003. The intraoperative findings revealed that the aortic valve consisted of an extensively calcified single cusp, and there was a single coronary artery originating from the left Valsalva sinus. Because adult patients with a unicuspid aortic valve are rare, and no cases of unicuspid aortic valve associated with a single coronary artery have been reported, we herein report this case with a review of the literature.This paper was presented at the 19th meeting of the Chubu Chapter of the Japan Society of Ultrasonics in Medicine.     

Ultrasound evaluation of aortic valve anatomy in the fetus.

OBJECTIVE: To assess the feasibility of ultrasound identification of aortic valve anatomy in the fetus, with particular emphasis on the detection of bicuspid aortic valve. METHODS: This study was a prospective analysis of 21 fetuses with prenatally diagnosed congenital left heart obstructive lesions and 45 normal fetuses undergoing routine ultrasound evaluated at a tertiary referral center. These fetuses underwent detailed echocardiography, including the study of the aortic valve on a targeted short-axis view of the right ventricle. Necropsies or postnatal echocardiograms were available for confirmation of the diagnosis in all cases. RESULTS: Aortic cusps and commissures were satisfactorily visualized in 38/45 (84%) normal fetuses and in 18/21 (86%) fetuses with congenital heart disease. The aortic valve was correctly defined as bicuspid in one normal fetus and in six fetuses with congenital heart disease. In two fetuses with a positive family history, the bicuspid aortic valve was isolated. There was one incorrect diagnosis (a unicuspid unicommissural valve diagnosed prenatally as a bicuspid aortic valve in a fetus with severe aortic stenosis) and one false-positive diagnosis in a fetus diagnosed with a coarctation and a bicuspid aortic valve late in the third trimester of pregnancy and in which both anomalies were not confirmed at neonatal echocardiography. CONCLUSIONS: This study demonstrated that aortic valve anatomy can be satisfactorily assessed in fetuses with and without left heart obstructive lesions. We believe that a detailed search for a bicuspid aortic valve should be attempted in all patients referred for a positive family history of congenital heart disease, in general, and of left ventricle outflow tract obstruction or bicuspid aortic valve, in particular. In fact, the presence of an asymptomatic bicuspid aortic valve has been demonstrated to represent an important factor predisposing to the development of bacterial endocarditis and dissecting aortic aneurysm late in adult life. Therefore, an early detection of such an anomaly may contribute to ensure a longer symptom-free lifespan of individuals with the most common cardiac anomaly at birth.     

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.     

Acquired supravalvular pulmonary stenosis due to extrinsic compression by a metastatic thymic carcinoid tumor

Acquired pulmonary artery stenosis is rare. There are two main types, firstly intrinsic disease of the pulmonary valve itself, such as carcinoid heart disease. Secondly, extrinsic compression of the pulmonary artery from a mediastinal structure. We report a case of acquired pulmonary supravalvular stenosis due to extrinsic compression by a carcinoid mediastinal tumor, confirmed by echocardiographic imaging/Doppler interrogation and computerized tomography.     

Bicuspid aortic valve stenosis complicated by descending aortic dissection mimicking coarctation of the aorta.

We report a rare case of bicuspid aortic stenosis complicated by an ascending aortic aneurysm and aortic dissection of DeBakey type IIIb. A 35-year-old woman was admitted to our hospital to examine her systolic murmur identified at birth. Severe aortic stenosis, dilatation of the ascending aorta, and the narrow color flow signal in the descending aorta were detected by transthoracic echocardiography. Initially, coarctation of the descending aorta was suspected, but aortic dissection, DeBakey type IIIb, was revealed by transesophageal echocardiography. Transesophageal echocardiography is indicated when only insufficient information is available on valve and aortic morphology in patients with bicuspid aortic valve.     

超声心动图评价二叶主动脉瓣畸形与升主动脉扩张的关系

目的　使用超声心动图评价二叶主动脉瓣畸形 (BAV)与升主动脉扩张的关系。方法　使用二维超声在四个部位检测 42例主动脉瓣功能正常的BAV患者 (病例组 1)、3 7例主动脉瓣狭窄的BAV患者 (病例组 2 )和 40例年龄、体表面积、血压等匹配的健康人 (对照组 )的升主动脉内径 :瓣环、瓦氏窦、主动脉上嵴及升主动脉近端。结果　病例组 2升主动脉瓦氏窦、主动脉上嵴及近端内径最大 ,其次为病例组 1(P <0 .0 5～P <0 .0 0 1)。但病例组 1中有一部分BAV患者的升主动脉内径与对照组无显著差异。结论　BAV常合并升主动脉扩张 ,提示两者可能为同一发育异常 ,即先天性主动脉壁发育缺陷的不同表现形式。     

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.     

Double‐outlet left ventricle with a bicuspid pulmonary valve and aortic coarctation

A double‐outlet left ventricle (DOLV) is a rare congenital cardiac malformation. Here, we describe a case of DOLV with bicuspid pulmonary valve, aortic coarctation, and a subpulmonary ventricular septal defect in which both ventricles were well developed. The anatomic features were observed with echocardiography, and the diagnosis was confirmed at surgery. Many variations of DOLV have been described. The features of our case expand the spectrum of this entity and may provide new insight into its complex anatomy.     

主动脉弓离断的超声心动图诊断

目的 提高超声对主动脉弓离断（IAA）的诊断能力。方法 回顾性分析5例IAA胸前及胸骨上窝二维及多普勒超声表现。结果 A型中断4例，B型中断1例，均伴有室间隔缺损（VSD）和重度肺高压（PH）。结论 术前超声心动图能够对LAA作出明确诊断。二维超声心动图（2DE）检查发现升主动脉细小，粗大肺动脉及其肺高压应高度怀疑本病，在胸骨上窝主动脉弓长轴观作重点探测。     

部分型肺静脉异位引流的超声诊断与手术结果对比分析

目的 通过分析超声诊断和手术结果,提高分型肺静脉异位引流（PAPVC）的超声诊断水平。方法 回顾性分析48例PAPVC患者的超声诊断,并与手术结果为对照。结果 本组48例中超声心动图提示PAPVC34例,其中26例PAPVC的类型引流途径与手术结果完全相符,8例部分相符。另有14例超声漏诊PAPVC,仅诊为房间隔缺损（ASD）。超声和手术均发现ASD45例,但超声对ASD类型判断与手术误差较大,而对PAPVC合并的其它畸形均诊断正确。结论 超声对PAPVC大部分可做出诊断,对部分异位引流右房的肺静脉的数目及走行可做出准确判断,对肺静脉开口显示不清的病例,易误诊为单纯的ASD。本文提示当发现ASD时,就高度警惕肺静脉入口的位置及血流方向。     

Severe pulmonary hypertension as a cause of reverse aortic arch flow in the neonate: Report of two cases

We describe two newborn infants with severe pulmonary hypertension and circulatory collapse. In both cases, pulsed and color flow Doppler studies showed systolic and diastolic reversal of flow in the transverse aortic arch to the level of the innominate artery. No associated cardiac or noncardiac anomalies could explain the reverse flow in the aortic arch. Severe pulmonary hypertension and low left ventricular output were thought to be responsible for the Doppler findings. Reversal of the aortic arch flow in the newborn with pulmonary hypertension may be associated with a poor prognosis, and early consideration of extracorporeal membrane oxygenation in such patients may be indicated.     

Bundle branch reentrant tachycardia in a patient with a calcified bicuspid aortic valve and normal ventricular function

We report the case of a bundle branch reentrant tachycardia (BBRT) in a 40-yearold patient with a calcified bicuspid aortic valve and normal left ventricular function. The ventricular tachycardia was eliminated by successful radiofrequency ablation of the right bundle branch. As the aortic valve annulus is in close proximity to the specialized conduction system, premature degeneration of a bicuspid aortic valve may involve the bundle of His and the proximal bundle branches by invading calcifications. We speculate that calcifications invading the proximal bundle branches from the bicuspid aortic valve may have created the substrate for the BBRT in this patient.     

小儿先天性主动脉瓣上狭窄的超声诊断

目的 探讨小儿先天性主动脉瓣上狭窄(SVAS)的超声心动图特点及其诊断价值.方法 超声心动图在多个切面上检查诊断为主动脉瓣上狭窄的31例息儿,与心导管、手术及基因检测相对照.超声重点观察主动脉瓣、瓣上、主动脉弓降部、肺动脉瓣、主肺动脉及其左右分支、冠状动脉的超声改变.结果 沙漏样环形狭窄26例,全段管型狭窄4例,隔膜型狭窄1例.极轻度狭窄[狭窄处的最大瞬时压差(△P)<25 mm Hg(1 mm Hg=0.133 kPa)]2例,轻度狭窄(△p 25～49 mm Hg)20例,中度狭窄(△P 50～75 mm Hg)5例,重度狭窄(△P>75 mm Hg)4例.19例患儿基因检测诊断为Williams综合征.合并主动脉瓣狭窄3例,其中1例首次检查时漏诊.合并肺动脉狭窄10例,占32.26%.其中肺动脉瓣狭窄6例,左、右肺动脉狭窄3例,左右肺动脉分叉处狭窄1例.合并冠状动脉扩张6例.结论 胸骨旁及心尖五腔切面为诊断SVAS较好的切面,SVAS好发于Williams综合征的患儿,32.26%的患儿伴有肺动脉狭窄.对于SVAS患儿需常规检查冠状动脉的改变.