Absence of an aortic valve cusp,a cause of severe aortic regurgitation in infancy

Summary Congenital aortic regurgitation is an extremely rare cardiac lesion. This is a case report of an infant with a severe degree of valve regurgitation due to absence of the noncoronary aortic cusp. We show the echocardiographic, angiographic, and surgical aspects of the case, emphasizing the importance of a precise anatomical diagnosis and the problems of early valve replacement.     

Isolated Congenital Absence of a Single Pulmonary Valve Cusp

Isolated absence of a single pulmonary valve is extremely unusual. We present a 16-year-old male with the absence of one cusp resulting in significant pulmonary regurgitation, right ventricular enlargement, and dilatation of the main pulmonary artery and its branches. Surgery consisted of creating a valve cusp from the posterior wall of the pulmonary artery at the base of the pulmonary trunk. Follow-up at 3.5 years revealed good results with only mild pulmonary stenosis and regurgitation.     

室间隔缺损修补术后少见并发症的超声心动图诊断病例系列报告

目的： 探讨室间隔缺损(VSD)修补术后少见并发症的超声心动图诊断要点。 方法：通过查询北京安贞医院（我院）超声影像报告系统及病案管理系统获取病例信息,纳入2013年1月至2018年4月在我院诊断或随访的VSD修补术后少见并发症的连续病例,术后时间不限,使用Philips IE33彩色多普勒超声诊断仪,选择S5-1探头,频率1~5 MHz。VSD修补术后少见并发症由我院经验丰富的医生确诊,并经团队医生共同确认。 结果：符合本文纳入标准的VSD修补术后少见并发症34例,男19例,女15例,年龄4个月至25岁,平均（4.7±5.9）岁。28例为术后左室-右房通道（LVRAC）形成,3例为术后主动脉瓣穿孔并主动脉瓣反流,1例为术后LVRAC形成合并主动脉瓣穿孔,2例为术后主动脉-左房通道形成。34例患者中6例接受外科手术矫治,5例LVRAC患者在随诊过程中自行愈合,其余23例患者继续随访观察中。LVRAC超声心动图表现：①心尖及剑突下四腔心切面显示三尖瓣隔瓣与二尖瓣前瓣之间回声中断,缺损位于三尖瓣环上方;②彩色多普勒显示从左室至右房的异常分流信号;③连续多普勒记录到收缩期高速射流频谱。主动脉瓣穿孔超声心动图表现：①左心室长轴及大动脉短轴切面显示无冠瓣或右冠瓣局部回声中断;②彩色多普勒显示源自瓣叶裂孔处的主动脉瓣反流。主动脉-左房通道超声心动图表现：①彩色多普勒显示从主动脉至左房的异常分流信号,左心室长轴、大动脉短轴及五腔心切面均可显示;②连续多普勒记录到双期连续性高速射流频谱。 结论：多切面扫查及密切结合血流频谱特点,可以明确VSD修补术后异常分流信号的诊断。     

Is early surgery always necessary in patients with aortic valve prolapse complicating an Eisenmenger-type ventricular septal defect?

Abstract Background. The report presents three patients who showed a typically prolapsed aortic cusp with or without aortic regurgitation associated with a malalignment-type peri membranous defect, the so called Eisenmenger-type ventricular septal defect.
Results. Each patient developed spontaneous complete or near closure of the ventricular septal defect without worsening of the aortic regurgitation.
Conclusions: These cases suggest that prolapsed aortic cusp complicating a malalignment perimembranous ventricular septal defect is not always an absolute indication for early surgery to prevent progressive aortic regurgitation.     

左胸肋间入路微创封堵手术治疗干下型室间隔缺损

目的总结左胸肋间入路微创封堵手术治疗干下型室间隔缺损(VSD)的初步经验。方法2014年2月至2 015年9月我们对19例干下型VSD患儿施行外科微创封堵手术,其中男性10例,女性9例;年龄0.5~17岁,平均(3.2±4.3)岁;体重5.5~50.0 kg,平均(14.3±10.9)kg;缺损直径3.5~9.0 mm,平均(5.4±1.8)mm;合并主动脉瓣右冠瓣轻度脱垂6例,主动脉瓣局限~轻微反流3例,肺动脉瓣轻中度狭窄1例,轻度狭窄1例。均采用左胸肋间入路,在经食管超声心动图(TEE)监视下建立VSD输送轨道并置入封堵器,观察有无残余分流及主动脉瓣反流;于出院前、手术后定期复查经胸超声心动图和心电图。结果 18例封堵手术获成功,因新发主动脉瓣中度反流及残余分流而中转开胸手术1例。术中新发主动脉瓣轻微反流2例,术前合并主动脉瓣反流患者中有2例反流加重。手术时间35~85 min,平均手术时间(55.7±15.9)min。术中出血量3~200 mL,平均(22.7±43.3)mL。围手术期输血1例。术后住院时间3~13 d,平均(4.2±2.3)d。术后出现残余分流、上呼吸道感染、伤口感染各1例。随访6~25个月,平均(14.7±7.0)个月,随访期间1例新发主动脉瓣反流,1例术中新发主动脉瓣反流消失,2例术后仍有主动脉瓣反流患者反流无明显变化,1例残余分流愈合,无传导阻滞发生。结论左胸肋间封堵手术治疗干下型VSD手术安全,操作简单,创伤小,恢复快,近期效果满意,远期效果需进一步随访;对合并主动脉瓣脱垂尤其主动脉瓣反流的干下型VSD需慎重施行外科徽创封堵手术。     

Surgical Outcome of Coronary Artery Fistulas Repair in Children

Coronary artery fistula (CAF) is a rare congenital anomaly that can be complicated by endocarditis, myocardial infarction, or coronary aneurysms. This article reviews the clinical characteristics and surgical outcome of 10 patients with CAF in Rajae Heart Center. From 1990 to 2000, 10 patients (age, 6 months to 15 years; mean age, 8.5 years) were diagnosed with CAF by echocardiography and cardiac catheterization. Six were female and 4 were male. All patients with isolated CAF (9) were asymptomatic. One patient with associated anomaly (mitral valve prolapse with severe mitral regurgitation) had dyspnea on exertion and palpitation. Five fistulas originated from the right coronary artery—three from the left and two from the left circumflex. Drainage was to the right ventricle (7), right atrium (2), and pulmonary artery (1). The ratio of pulmonary to systemic flow ranged between 1 and 1.6. All patients had surgical ligation. In the symptomatic patient, in addition to ligation, mitral valve replacement was performed. There was no operative or late death. Follow-up evaluation (range, 1–6 years; mean, 4.2 years) showed no evidence of recurrent or residual CAF. Surgical management of CAF is a safe and effective treatment resulting in 100% survival and clousure rate.     

Morphologic Analysis of Common Atrioventricular Valves in Patients with Right Atrial Isomerism

The objective of the study was to examine the relation between the morphology of the common atrioventricular valve and regurgitation of the valve in patients with right atrial isomerism. We examined seven consecutive patients with documented right atrial isomerism who subsequently underwent postmortem examination during a 10-year period. The degree of regurgitation and the diameters of the common valve were evaluated via cineangiography, and the site of regurgitation was evaluated by echocardiography. The morphology of the common atrioventricular valve was assessed further at autopsy. Cineangiography revealed valve diameters ranging from 14.8 to 27.8 mm (mean 20.9 mm). Valvar regurgitation was revealed within 2 months of birth in all patients. Regurgitation abruptly worsened in three patients after placement of a Blalock–Taussig shunt or a central shunt and postintubation. Autopsies revealed that the common atrioventricular valve consisted of four leaflets in five patients, and three leaflets in two. The anterior leaflets were large and protruding in all patients, and the lateral leaflets were thickened in six. All patients had a mass consisting of the left lateral leaflets and chordae with direct attachment of the chordae to the ventricular muscle (the right lateral leaflet was attached to the ventricular muscle and immobile in one patient). The lateral leaflets clung to the ventricular wall and exhibited poor movement in six patients. Leaflets with poor mobility corresponded to the regurgitant valvar site as assessed by echocardiography in six patients; and the regurgitation in three patients with acute deterioration occurred at the valvar side with poor mobility. It is concluded that the common atrioventricular valve in patients with right atrial isomerism has morphologic characteristics that may be associated with valvar regurgitation and malignant potential for abrupt deterioration after replacement of systemic–pulmonary shunting.     

Cardiac involvement in infantile Sandhoff disease

An 18-month-old boy with enzyme assay-confirmed infantile Sandhoff disease (MIM 268800) is reported. Besides the classical neurological features, this patient exhibited severe mitral regurgitation secondary to mitral valve prolapse and mild aortic regurgitation from aortic valve prolapse. He also had asymmetric hypertrophy of the interventricular septum without left ventricular outflow tract obstruction.     

Tricuspid regurgitation in newborn infants with respiratory distress: echo-Doppler study

The purpose of this investigation was to use Doppler echocardiography to evaluate respiratory problems significant enough to warrant supplemental oxygenation in newborn infants. Of 17 infants (mean gestational age 37.5 weeks, mean birth weight 3070 g) 14 (82%) had detectable tricuspid regurgitation. By modified Bernoulli equation, all infants had right ventricular pressure greater than 60% of systemic pressure, and nine of 14 had estimated right ventricular pressure at or near systemic pressures. In eight infants for whom sequential evaluations could be obtained, right ventricular pressure as a percentage of systemic pressure gradually decreased, and corresponded to decreasing needs for supplemental oxygenation. Tricuspid regurgitation could no longer be detected between 3 and 16 days after the first study, and was associated with decreased right ventricular pressures (less than 50% systemic) and weaning from supplemental oxygenation. We conclude that in the near-term infant with early respiratory difficulties, tricuspid regurgitation is common and is associated with increased right ventricular pressure.     

Paradoxical relationship between mitral valve prolapse and left ventricular function in Marfan's syndrome

Summary A child with Marfan's syndrome had cardiac failure during infancy. Aortic sinus aneurysms, mitral prolapse with severe regurgitation, and atrial septal defect were present. After myocardial infarction at age 4 years, the mitral prolapse became less and the regurgitation disappeared. After recovery of left ventricular function, mitral regurgitation reappeared. The unusual relationship between mitral valve and left ventricular function could be related to redundant chordae and leaflet. Myocardial infarction occurs in Marfan's syndrome even during childhood.Supported by grant RR-305 from the General Clinic Research Centers Program of the Division of Research Resources, National Institutes of Health, Bethesda, Maryland     

Perforation of the Right Aortic Valve Cusp: Complication of Ventricular Septal Defect Closure with a Modified Rashkind Umbrella

An 18-month-old boy with a perimembranous ventricular septal defect (VSD) had undergone transcatheter closure of the defect with a modified 17 mm Rashkind umbrella device at age 4 months (weight 3.8 kg). The clinical signs of a VSD persisted, and he developed aortic incompetence, first detected 5 months after the procedure, which progressed from mild to moderate. A three-dimensional echocardiographic study demonstrated that one of the four arms holding the umbrella was protruding into the aortic valve and had perforated the right aortic valve cusp. This diagnosis was confirmed at subsequent surgery. Surgical repair of the perforated right aortic valve leaflet was necessary. The umbrella was adherent to the tricuspid valve and could not be removed. Instead it was left in situ, but three of the stainless steel arms were cut off. When umbrella closure of a perimembranous VSD is undertaken, the close proximity of part of the distal umbrella to the aortic valve can lead to aortic regurgitation.     

Ventricular dysrhythmias in children with Marfan's syndrome

A teenager with Marfan's syndrome required resuscitation and was found to have multiform premature ventricular contractions and ventricular tachycardia. Of 24 children with Marfan's syndrome, eight (33.3%) were found to have ventricular dysrhythmias, including three with ventricular tachycardia. Six of these eight patients had mitral valve prolapse, and five had prolonged QT or QTU intervals corrected for heart rate. However, only two patients had severe mitral regurgitation, five had only mild heart disease, and one had no detectable heart lesion. The role of mitral valve prolapse and/or delayed repolarization in the development of ventricular dysrhythmia was explored. Delayed repolarization, especially when combined with mitral valve prolapse, is associated with occurrence of ventricular dysrhythmia. Serious ventricular dysrhythmia can occur in children with Marfan's syndrome with or without substantial valve disease, and the dysrhythmia appears to progress with age.     

儿童先天性主动脉瓣畸形32例病理组织学特征

目的 探讨儿童先天性主动脉瓣畸形的病理组织学特征，为诊断提供依据。方法 对2003年1月至2005年12月因先天性主动脉瓣畸形、主动脉瓣功能障碍行外科手术切除的32例儿童主动脉瓣标本进行大体观察和组织学检查，复习病史并摘录相关资料，分析其病理组织学特征。诊断依据临床表现、术前超声心动图、术中所见及术后病理组织学检查，除外风湿性或退行性主动脉瓣病变、感染性心内膜炎及原发性结缔组织病变如Marfan综合征。结果 32例儿童先天性主动脉瓣畸形中，男性27例，女性5例，男：女=5.4：1，年龄6~18岁，平均年龄14.9岁。二叶型占37.5％（12例），三叶型59.4％（19例），四叶型3.1％（1例）。主动脉瓣狭窄（aortic stenosis，AS）5例（15.62%），主动脉瓣关闭不全（aortic insufficiency，AI）25例（78.13%），AS-AI 2例（6.25%），均不伴其他心脏瓣膜病变。20例伴其他先天性心脏病：室间隔缺损19例，动脉导管未闭2例，右室双腔心1例，主动脉右冠窦瘤3例。病理组织学改变为瓣叶增厚、大小不等、不规则（卷曲或脱垂）及坚度增加，部分伴钙化，光镜下示纤维组织增生，粘液样变性，胶原纤维溶解、断裂，弹性纤维破坏，偶见胶原纤维玻璃样变性、灶性钙化，无小血管增生及炎性细胞浸润。少数可见心内膜面局部破溃，内皮下毛细血管增生，纤维素性渗出，炎性细胞浸润，继发性钙质、脂质沉着和纤维化。结论 儿童先天性主动脉瓣畸形以男性为多见，二叶型、三叶型主动脉瓣常见，常伴有其他先天性心脏病，瓣膜功能障碍以AI为主，病理组织学改变主要为为瓣叶增厚、大小不等、不规则（卷曲或脱垂），光镜下示纤维组织增生，粘液样变性，胶原纤维溶解、断裂，弹性纤维破坏，无小血管增生及炎性细胞浸润，而纤维化、钙化少见。     

Progression of Aortic Regurgitation After Different Repair Techniques for Congenital Aortic Valve Stenosis

We sought to characterize the incidence of AR progression and determine risk factors for AR progression in a consecutive series of infants and children after surgical correction of congenital aortic valvular and supravalvular stenosis. N = 30 patients underwent repair of the aortic valve for isolated congenital aortic valve stenosis (n = 14, 47 %) or combined with aortic regurgitation (AR, n = 16, 53 %). N = 27 (90 %) had a valvular and n = 3 patients (10 %) presented with supravalvular pathology of their aortic valve. In n = 16 patients (53 %) a bicuspid and in n = 2 (6 %) patients, a unicuspid valve was present. Comparative survival was analyzed using the Cox model and log-rank calculations. Log-rank calculations were performed for variables reaching statistical significance in order to identify differences in survival between groups. Commissurotomy was performed in n = 20 patients, patch implantation in n = 4, cusp shaving in n = 8, cusp prolapse correction in n = 3, and cusp augmentation in n = 4 patients. In patients with combined dysfunction and preoperative AR, AR was successfully reduced by the initial procedure, and postoperatively the overall median AR grade was 1+ (range 0–2.5+, p = 0.001, for AR reduction among patients with any grade of preoperative AR). By the time of follow-up echocardiography, the median AR grade had significantly progressed toward 1.5+ (p = 0.004). At the time of mid-term follow-up at 3.2 years, none of the patients had moderate or severe AR grades >2.5+. Patients with a monocuspid aortic valve and patients who had some kind of patch implantation into their cusps or commissures or shaving of thickened cusps were more likely to present with progression of aortic regurgitation. Monocuspid aortic valve and patch implantation, as well as cusp shaving, are probably linked to AR progression. The standard procedure of commissurotomy results in an absolute rate of AR progression of 40 % over a medium-term follow-up period.     

超声引导下经胸微创封堵治疗先心病的远期随访结果分析

目的 总结超声引导下经胸微创封堵治疗儿童先心病的临床经验及随访结果,探讨其远期疗效及安全性.方法 回顾性分析2007年3月至2017年12月在青岛大学附属妇女儿童医院心脏中心行食道超声引导下经胸微创外科封堵术治疗的先心病患儿临床资料,并进行长期随访.随访截至2020年12月,随访内容包括超声心动图、心电图、临床症状、并...     

Dysplasia of AV valve in complete AV canal with tetralogy of Fallot: Surgical repair

Summary A five-year-old girl underwent surgery for tetralogy of Fallot and complete persistent atrioventricular (AV) canal. At operation, severe dysplasia of the right side of the common AV valve was found, with an accessory orifice and muscularization of a leaflet. Repair was carried out by closing the AV defect, through a combined right atrial and right ventricular approach, by a pericardial patch with a large anterior extension. Closure of the resulting mitral cleft, resection of anomalous muscle bundles and pulmonary valvotomy were also performed. Postoperatively the patient presented severe tricuspid regurgitation. Repair of the valve was deemed impossible and valve replacement was considered to have a very high risk due to the age of the patient, the small size of the right ventricle, and the previous repair of the AV defect. A modified Fontan operation was, therefore, considered preferable and successfully carried out. After the second operation, mediastinal infection developed and was successfully treated by local irrigation of diluted providone-iodine solution.     

A new and rare form of Williams' syndrome

A 7 year old girl and her mother have typical phenotypic features of the Williams' (elfin facies) syndrome, and both have only mild mitral regurgitation with mitral valve prolapse (MVP). Mitral valve prolapse has been reported in only three cases but pure mitral insufficiency has not been reported alone. In this paper two cases of a new rare form of Williams' syndrome with MVP are presented and this rare disorder is discussed.     

围产期心脏超声诊断胎儿三尖瓣返流的临床意义

应用多普勒超声心动图研究胎儿三尖瓣返流（ＴＲ）的围产期产生机制及其临床意义。对６５６例孕周为２０周～３７周胎儿进行多普勒超声心动图检查,检出ＴＲ８８例,其中胎儿先心病组１６例,心律失常组４３例,双胎输血片７例,母亲患糖尿病者２例,而正常胎儿５８８例中仅发现ＴＲ３３例（占５．６２％）。结果表明,胎儿时期右室占优势使右室处于高压腔状态,故正常胎儿的ＴＲ发生率极低,且多属生理性范围。因此,多普勒超声检出     

A case of mitral papillary muscle rupture due to blunt chest trauma

Mitral regurgitation due to papillary muscle rupture after blunt chest trauma is uncommon. Sudden onset severe mitral regurgitation may lead to death due to heart failure if surgical repair is delayed. A previously healthy 12-year-old girl underwent splenectomy and chest tube insertion for pneumothorax after a traffic accident in a vehicle 15 days before. She was discharged from the hospital after a nine-day follow-up. She was presented to our hospital due to respiratory distress. On physical examination, an apical holosystolic murmur radiating to the axillary region was recognized. Transthoracic echocardiogram showed severe mitral regurgitation with freely moving posterior mitral chordae and prolapse of the posterior mitral valve leaflet. She received reimplantation of the complete ruptured posteromedial papillary muscle of the mitral valve. Her medical condition improved after the operation. On the postoperative echocardiogram, the left ventricular systolic function was normal with no mitral regurgitation.