室间隔缺损介入治疗的研究现状与发展

室间隔缺损是最常见的先天性心脏病之一。作为外科治疗的一种替代,室间隔缺损的介入治疗在近20年有了巨大的发展。介入治疗的装置更易于放置,生物相容性好,并发症少。介入治疗室间隔缺损的技术不断提高,临床适应证不断扩展,具有很好的临床应用前景。     

自制单向活瓣在室间隔缺损并重度肺动脉高压病人畸形矫治中的应用

目的探讨单向活瓣补片加房间隔开窗术对先心病合并重度肺动脉高压(PH)病人手术治疗的可行性和疗效。方法回顾性分析采用单向活瓣补片加房间隔开窗术对20例室间隔缺损伴重度PH病人进行手术矫正的疗效和随访观察结果。结果术后早期7例病人肺动脉压明显下降,未出现跨活瓣片的分流;13例病人术后7d出现分流。死亡2例(1例死于心力衰竭,1例因上消化道出血死于术后13d),18例病例康复出院。术后出现分流的13例中,8例随访1个月~48个月,3个月仍出现跨活瓣片分流的4例,右向左分流3例,双向分流1例。术后6个月以上仍存在经活瓣片分流的1例,肺动脉收缩压(PP)/主动脉收缩压(PS)>0.75。7例术后未出现跨活瓣片分流者,术后3个月复查肺动脉压下降满意。结论单向活瓣补片允许术后特定情况下右向左分流,有效减轻右心室负荷,有利于早期右心功能恢复,达到保持体肺循环相对平衡,提高术后生存率。     

Diastolic Left-to-Right Shunting in Uncomplicated Ventricular Septal Defect

The systolic left-to-right shunt in patients with uncomplicated ventricular septal defect is associated with a classic loud murmur, and is well described. The additional diastolic left-to-right shunt, always silent, is less well recognized. Left-to-right diastolic shunt flow is directly related to the defect size, to the diastolic pressure gradient between the left and right ventricle, and to the duration of diastole. The purpose of this study was to evaluate by Doppler echocardiography the duration, magnitude, and flow velocity characteristics of the diastolic left-to-right shunt. There were 30 adult patients with uncomplicated ventricular septal defects studied by color, pulsed, and continuous wave Doppler echocardiography. In each patient, the uncomplicated ventricular septal defect was visualized by two-dimensional echocardiography and/or Doppler echocardiography, and the systolic and diastolic left-to-right shunt flow was identified by Doppler echocardiography. Accurate Doppler flow velocity peaks twice, in beginning and again at end diastole. The mean diastolic flow velocity was 0.5–1.5 msec (average 0.83 ± .22 msec). This flow velocity was markedly lower than the mean systolic shunt flow velocity (2.4–5.3 msec, average 3.8 ± .7 msec). The Doppler flow velocity integral was 0.17–0.64 m (average 0.36 ± 0.14), markedly smaller than the systolic flow velocity integral (0.8–1.8 m, average 1.3 ± 0.3). The diastolic left-to-right shunt flow was 12–41% (average 21 ± 8) of total (systolic and diastolic) shunt flow. In conclusion: Diastolic left-to-right shunts can be identified in all patients with uncomplicated ventricular septal defects, and analyzed in the majority of patients. A significant degree of the left to right shunting in uncomplicated ventricular septal defects occur during diastole.     

基因突变在先天性房间隔缺损和室间隔缺损发育形成中的作用研究

对于先天性房间隔缺损、室间隔缺损通过外科和介入手术治疗可大大提高患者生存率,但对其发育畸形的根本原因仍属于探索阶段。目前现有的研究表明,先天性心脏病是由于控制人体心脏发育的基因在时间(发育阶段)和空间(组织特异性)上的表达调控失误而引起的。现即从现有的基因水平研究对基因突变在先天性房间隔缺损和室间隔缺损发育形成中的作用研究作一综述,为从基因方面早期筛检、诊断、治疗先天性房间隔缺损、室间隔缺损提供参考。     

Right-sided Infective Endocarditis with Ventricular Free Wall Vegetation Caused by Abiotrophia defectiva in a Patient with Unrepaired Ventricular Septal Defect

To our knowledge, there have been no reports of right-sided infective endocarditis (RSIE) with ventricular free wall vegetation caused by Abiotrophia defectiva. We herein report a case of RSIE caused by A. defectiva with ventricular free wall vegetation in a 27-year-old man with ventricular septal defect (VSD). Computed tomography showed multiple bilateral pulmonary nodular shadows. Transesophageal echocardiography (TEE) demonstrated right ventricular free wall vegetation at the jet stream. Blood culture revealed A. defectiva. These findings are consistent with a diagnosis of infective endocarditis and septic pulmonary embolism. Treatment with ceftriaxone and gentamicin and subsequent surgical VSD closure improved the patient''s condition without recurrence.     

Supracristal Ventricular Septal Defect Complicated by Formation of an Aorto-Right Ventricular Outflow Tract Fistula: A Rare Cause of Biventricular Enlargement

Aorto-right ventricular outflow tract fistulas typically occur secondary to trauma, infective endocarditis, and sinus of Valsalva aneurysm rupture. We describe an unusual case of a spontaneous aorto-right ventricular outflow tract fistula in the absence of such findings, instead forming secondary to a complicating supracristal ventricular septal defect and leading to dilated cardiomyopathy.     

Transcatheter Closure of a Right Pulmonary Artery to Left Atrium Fistula Using a Ventricular Septal Defect Occluder

Background: Communication between the right pulmonary artery (RPA) and left atrium (LA) is a rare cause of central cyanosis in pediatric patients. Case presentation: We describe a 3-year-old female patient with an oxygen saturation of 70% at admission. The echocardiogram indicated an abnormal color flow Doppler in the LA and she underwent standard cardiac catheterization. The angiography of pulmonary artery revealed a 7.4 mm × 7.6 mm fistula between the RPA and LA and achieved successful closure using ventricular septal defect occlusion. Conclusion: The fistula between pulmonary artery and left atrium is an extremely rare but treatable congenital defect. It should be considered in differential diagnosis of cyanosis in children.     

Increased incidence of infective endocarditis in patients with ventricular septal defect

Background: Ventricular septal defect (VSD) is one of the most common congenital heart anomalies in childhood and there is an increasing prevalence of VSDs in the adult population. The long‐term risk of infective endocarditis (IE) is of concern. The aim of this study was to clarify and compare the incidence of IE in adults with re‐ paired and unrepaired VSDs.
Methods: Patients with VSDs were identified using the Adult Congenital Heart Disease registry at the National Heart Centre Singapore. Patients were divided into Group 1 (repaired VSD) and Group 2 (unrepaired VSDs). The electronic medical re‐ cords were searched for hospitalization due to IE during a 10‐year period (October 2, 2007—October 1, 2017).
Results: Four hundred seventy‐nine patients (53% male) were identified, with a mean age of 35.0 ± 13.7 years. There were 164 patients (34.2%) in Group 1 and 315 pa‐ tients (65.8%) in Group 2. In total, there were eight episodes of IE from six patients (3 male, mean age of 42.2 ± 20.7 years). Two patients had recurrent IE. The overall inci‐ dence of IE was 1.67/1000 y, and this is 11–15‐fold higher compared to general adult population. The incidence of IE in Group 2 was 1.90/1000 y. There were no IE cases in Group 1.
Conclusion: Patients with VSDs, especially if unrepaired, carry a substantially in‐ creased risk of IE compared to the general population.     

Percutaneous Repair of Post-Myocardial Infarction Ventricular Septal Defect: Current Approaches and Future Perspectives

Post-myocardial infarction ventricular septal defect is a devastating complication of ST-elevation myocardial infarction. Although surgical intervention is considered the gold standard for treatment, it carries high morbidity and mortality rates. We present 2 cases that illustrate the application of percutaneous closure of a post-myocardial infarction ventricular septal defect: the first in a patient who had undergone prior surgical closure and then developed a new shunt, and the second as a bridge to definitive surgery in a critically ill patient.     

Complete Atrioventricular Septal Defect with Truncus Arteriosus and Interrupted Aortic Arch in the Fetus

Complete atrioventricular septal defect is generally diagnosed on the four‐chamber view of the fetal heart. This defect can be accompanied by additional outflow tract lesions, including truncus arteriosus. Although truncus arteriosus in isolation can be associated with interrupted aortic arch, we describe a fetal case with the rare association of all three diagnoses: complete atrioventricular septal defect with truncus arteriosus and interrupted aortic arch. This case points to the importance of evaluating the complete fetal heart even after one congenital cardiac abnormality is noted. The complexity of heart disease has implications for prenatal counseling and postnatal management.     

Incremental Value of Three‐Dimensional Echocardiography over the Two‐Dimensional Technique in the Assessment of Combined Sinus of Valsalva Rupture into the Right Ventricle and Adjacent Perimembranous Ventricular Septal Defect

We describe the incremental value of live/real time three‐dimensional (3D) echocardiography over the 2D technique in the assessment of ruptured right sinus of Valsalva into the right ventricle associated with an adjacent perimembranous ventricular septal defect in an elderly patient.     

Neocuspidization of the Pulmonary Valve with Autologous Pericardium in the Adult Patient with Ventricular Septal Defect and Infective Endocarditis: A Case Report and Review of the Literature

Congenital heart disease (CHD) is one of the risk factors for developing infective endocarditis (IE). Right-sided IE occurs in 5%–10% of endocarditis cases, and pulmonary valve (PV) is involved in less than 2% of such patients. Literature data are few, and optimal treatment methods, indications for surgery, and types of operative techniques are still under debate. We present an adult patient with a rare combination of the ventricular septal defect (VSD) and PV IE who underwent surgical treatment. Neocuspidization with autologous pericardium was utilized for the reconstruction of his PV. We discuss details of this novel surgical technique.     

Evaluation of Biventricular Volume and Systolic Function in Children with Ventricular Septal Defect and Moderate to Severe Pulmonary Hypertension Using Real-Time Three-Dimensional Echocardiography

Background: Real-time three-dimensional echocardiography (RT-3DE) could obtain ventricular volume and ejection fraction rapidly and non-invasively without relying on ventricular morphology. This study aims to use RT-3DE to evaluate the changes in biventricular volume and systolic function in children with ventricular septal defect (VSD) and moderate to severe pulmonary hypertension (PH) before surgery. Methods: In this study 18 children with VSD and moderate to severe PH (VSD + PH Group) and 18 healthy children of the same age (Control Group) were recruited. Biventricular volume and systolic function were evaluated by RT-3DE. The measurements included: left and right ventricular volume indexed to body surface area (BSA), stroke volume (SV) indexed to BSA, and ejection fraction (EF). Results: The results showed left and right ventricular volume indexed to BSA and SV indexed to BSA were significantly increased in VSD + PH Group (VSD + PH Group vs. Control Group), LVEDV/BSA (ml/m² ): 48.67 ± 21.46 vs. 25.59 ± 6.96, RVEDV/BSA (ml/m² ): 55.98 ± 15.35 vs. 27.69 ± 4.37, LVSV/BSA (ml/m² ): 24.08 ± 9.30 vs. 15.14 ± 4.29, RVSV/BSA (ml/m² ): 26.02 ± 8.87 vs. 14.11 ± 2.89, (P < 0.05). While for EF in VSD + PH Group decreased (VSD + PH Group vs. Control Group), LVEF: 50.93 ± 7.50% vs. 59.38 ± 7.24%, RVEF: 45.84 ± 7.71% vs. 51.05 ± 6.90% (P < 0.05). Conclusion: In children with VSD and moderate to severe PH, increased biventricular volume and decreased systolic function were observed with RT-3DE, but biventricular systolic function remained within acceptable limits. The children in this study recovered well after surgery without serious perioperative complications, suggesting that biventricular systolic function may help facilitate the surgical decision-making process in children with VSD and moderate-tosevere PH.     

应用双封堵器封堵治疗复杂膜部瘤型室间隔缺损

目的:探讨应用双封堵器对复杂膜部瘤型室间隔缺损（VSD）进行介入封堵治疗的可行性、有效性和安全性。方法: 12例复杂膜部瘤型VSD患者,左心室造影后常规右股动脉-左心室-VSD-右心室-右股静脉输送轨道,对VSD进行封堵,重复左心室造影,发现存在不能接受的残余分流,遂建立右股动脉-左心室-VSD-右心室-左股静脉输送轨道,应用第2枚封堵器对残余分流进行封堵,左心室、升主动脉造影以及超声心动图检查确认封堵效果良好,释放封堵器。术后1、3、6、12个月复查超声心动图、X线检查和12导联心电图。结果: 12例患者均封堵成功。术毕即刻造影和超声心动图检查示封堵效果良好,无残余分流,各组瓣膜功能良好,无并发症发生。随访期间所有患者杂音消失,超声心动图检查无残余分流,心电图检查均为窦性心律,无房室传导阻滞或束支传导阻滞。结论: 应用双封堵器对复杂膜部瘤型VSD进行封堵治疗是可行的,且具有满意的疗效和安全性。     

Down Syndrome with Complete Atrioventricular Septal Defect,Hypertrophic Cardiomyopathy,and Pulmonary Vein Stenosis

The prevalence of congenital heart disease in infants with Down syndrome is 40%, compared with 0.3% in children who have normal chromosomes. Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations, such as in trisomy 21, whereas hypertrophic cardiomyopathy is chiefly thought to be secondary to specific gene mutations. We found only one reported case of congenital hypertrophic cardiomyopathy and atrioventricular septal defect in an infant with Down syndrome. Here, we report atrioventricular septal defect, hypertrophic cardiomyopathy, and pulmonary vein stenosis in a neonate with Down syndrome—an apparently unique combination. In addition, we discuss the relevant medical literature.     

Double‐Chambered Right Ventricle with Pulmonary Valve Endocarditis

We describe a rare case of pulmonary valve endocarditis associated with a double‐chambered right ventricle in an adolescent male highlighting the two‐dimensional and three‐dimensional transthoracic echocardiographic findings. He was managed with aggressive antibiotic therapy followed by surgery. The echocardiographic findings were confirmed during surgery.     

Management of residual shunts after initial percutaneous patent foramen ovale closure: A single center experience with immediate and long‐term follow‐up

Background: Moderate‐to‐large residual shunts following percutaneous patent foramen ovale (PFO) closure are clinically important and associated with recurrent neuroembolic events. However, their management has not been clearly established in clinical practice. We report our experience in patients of these patients with a prior history of cryptogenic stroke and/or transient ischemic attack (TIA). Methods: All patients undergoing percutaneous PFO closure were routinely screened at six‐months for residual shunts using transthoracic 2D echocardiography with antecubital administration of agitated saline contrast and color flow Doppler. Patients with evidence of moderate‐to‐large residual shunts were selected to undergo reintervention with shunt closure. Postreintervention follow‐up was performed at 24‐hr, 30 days, and every six months thereafter. Clinical predictors of the moderate‐to‐large residual shunts, and the feasibility, safety and long‐term efficacy of percutaneous residual shunt closure using a second device implant were examined. Results: Between 1995 and 2007, a total of 424 patients underwent PFO closure. Of these, 5% (21/424) had moderate‐to‐large residual shunts. Baseline characteristics among patients with moderate‐to‐large residual shunts and those with only none or small defects (n = 403) were similar. Multivariate analysis identified the 24‐hr postprocedure shunt as the only independent predictor of residual shunting at six months. Of the 21 study patients with moderate‐to‐large residual shunt (mean age, 47 ± 14), one underwent successful elective surgical repair, while the remaining 20 underwent transcatheter closure using a second device. The technique was successful in 95% (19/20), and all but one patient had complete shunt closure at six months of their percutaneous reintervention. We report no deaths, recurrent strokes or TIAs during the long‐term mean follow‐up period of 2.9 years. Conclusions: Our study suggests that in patients with moderate‐to‐large residual PFO shunts, percutaneous reintervention using a second device implant is safe and effective. © 2010 Wiley‐Liss, Inc.     

From numbers to guidelines

Advances in pediatric cardiology and cardiac surgery have resulted in a change in the mortality, prevalence, and age distribution of patients with congenital heart disease (CHD). In this chapter, we review the changing epidemiology of CHD and the impact of these trends on health services utilization and delivery in this population. We demonstrate not only that adult CHD (ACHD) patients have high utilization rates but also that care gaps exist where disease is expected to be lifelong. We outline the components of quality improvement for the care of ACHD patients. We review the newly published guidelines for the management of CHD conditions in adults, anchoring them to structure, process, and outcome indexes of quality of care. We highlight the manpower needs and the importance of an appropriately trained cardiology workforce to provide ACHD care. Finally, we review recommended health care systems ideally suited to deliver care to this population.     

Management of pregnancy in patients with congenital heart disease

Congenital heart diseases are the most common birth defects in humans, affecting approximately 0.8% of all live births. In the past, many of the more severe defects resulted in profound disability and death during childhood, and adult survival was exceptional. The past 4 decades have seen dramatic improvements in the survival and quality of life of patients with the more severe defects. As a result of these improvements, the challenges of caring for adults with congenital heart disease are only now being realized. Most women with congenital heart disease are now expected to reach childbearing age and maternal cardiac disease is the major cause of maternal morbidity and mortality. As such, appropriate pre-pregnancy counseling and management during pregnancy are fundamental components of the care of these patients. This article describes the circulatory changes that occur during normal pregnancy and delivery, addresses the risks posed during pregnancy by specific congenital lesions, and reviews the current data on pregnancy outcomes in patients with individual congenital defects.