Atypical Shone's complex diagnosed by echocardiography

Shone??s complex is a rare and severe type of congenital left-sided obstructive lesion of multiple cardiovascular levels. This report aims to present the authors?? experience diagnosing atypical Shone??s complex using echocardiography. Atypical Shone??s complex was diagnosed for 38 consecutive patients (18 boys and 20 girls, ages 1?day to 15?years) using echocardiography. All the diagnoses were confirmed by cardioangiography, surgery, or both. Among the congenital left-sided obstructive lesions, four levels of obstruction coexisted in 3 cases (7.9%), three levels in 10 cases (26.3%), and two levels in 25 cases (65.8%). Supra-annular mitral stenosis caused by a supravalvular mitral ring was diagnosed in 1 case. Mitral valvular stenosis was diagnosed in 24 cases including a parachute mitral valve (4 cases), a double-orifice mitral valve (1 case), and partly fused thickened mitral valvular leaflets (19 cases). Subaortic stenosis was diagnosed in 10 cases including circumferential membranous subaortic stenosis (1 case), tunnel-type subaortic narrowing (2 cases), and asymmetric obstructive fibrous ridge below the aortic valve (7 cases). Aortic stenosis was diagnosed in 25 cases including the bicuspid aortic valve (12 cases), the hypoplasia aortic annulus (3 cases), and partly fused or thickened tri-leaflet aortic valves (10 cases). Supra-aortic stenosis was diagnosed in 6 cases including the localized type (4 cases) and the diffused type (2 cases). Coarctation of the aorta was diagnosed in 26 cases. Of these, focal coarctation was described in 15 cases, long segment coarctation in 7 cases, and dysplastic isthmus and/or descending aorta in 4 cases. Secondary changes in Shone??s complex manifested as left atrial dilation (26 cases), left ventricular hypertrophy (26 cases), and pulmonary hypertension (19 cases). Echocardiography plays an important role in the diagnosis of atypical Shone??s complex, in comprehensive evaluation of the number, position, morphology, and severity of left-sided obstructions.     

Prenatal Diagnosis of Severe Aortic Stenosis

We sought to identify echocardiographic markers that might be useful for managing fetuses with significant aortic stenosis. The study was a retrospective review of fetal echocardiographic studies and postnatal outcomes of all fetuses diagnosed with significant aortic stenosis who did not have a hypoplastic left ventricle on the initial echocardiogram. Where possible, fetal echocardiographic measurements included the aortic, mitral, pulmonary, and tricuspid valve annulus sizes; left ventricular dimensions and volume; septal and left ventricular wall thicknesses; and echocardiographic Doppler interrogation of the left heart and oval fossa. Observations also included an assessment of ascites, pericardial effusion, and endocardial fibroelastosis. Prenatal measurements were compared to postnatal outcomes. Four patients (group 1) had either clinically successful relief of their aortic obstruction (n= 3) or required no intervention (n= 1). Five fetuses evolved to the hypoplastic left heart syndrome (group 2). These infants demonstrated little or no growth in left ventricular, aortic valve, or mitral valve dimensions on serial examination. They also more often exhibited mitral stenosis, severe restriction of interatrial shunting, and early to mid second trimester left ventricular dilatation. Serial measurements of fetal cardiac size and function are helpful for predicting the postnatal outcome of fetuses with aortic stenosis.     

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal

OBJECTIVE: To report the relative prevalence of various forms of congenital heart disease (CHD) in children with Noonan syndrome (NS) and to describe anatomic characteristics of the subgroup of patients with atrioventricular canal (AVC). STUDY DESIGN: Phenotypic and cardiologic examinations were performed in 136 patients with NS and CHD evaluated at our hospital from January 1986 to December 1998. Cardiac evaluation included chest x-ray film, electrocardiogram, 2-dimensional and color Doppler echocardiography, cardiac catheterization with angiocardiography, and cardiac surgery. RESULTS: The CHDs classically reported in NS, including pulmonary stenosis (39%), hypertrophic cardiomyopathy (10%), atrial septal defect (8%), and tetralogy of Fallot (4%), are well represented in our series; however, aortic coarctation (9%) and anomalies of the mitral valve (6%) may also occur in this syndrome. Moreover, AVC was diagnosed in 21 patients, representing 15% of all CHDs in our series. All patients showed a partial form of AVC, and an associated subaortic stenosis caused by additional anomalies of the mitral valve was detected in 5 of 21 (23.8%) of those patients. CONCLUSION: Left-sided lesions, such as aortic coarctation and anomalies of the mitral valve, are not rare in patients with NS and CHD. Moreover, in this syndrome AVC is quite frequent, the partial form is prevalent, and subaortic stenosis caused by additional anomalies of the mitral valve may be present. This information should be taken into consideration during the cardiologic evaluation of children with NS.     

先天性心脏病经导管介入治疗现状及进展

先天性心血管疾病的经导管介入治疗近年得到了长足的发展,介入治疗的方法不断增加,范围不断扩大.文章简要回顾小儿先心病经导管介入治疗的方法如球囊扩张成彤术治疗主动脉、肺动脉及其分支狭窄以及主动脉瓣和主动脉弓缩窄,血管内支架在肺动脉分支狭窄、体静脉狭窄、主动脉缩窄及在未闭动脉导管中的植入以及房、室间隔缺损的介入治疗等,同时介绍最新的一些研究进展,如经皮二尖瓣修复术、主动脉和肺动脉带瓣支架植入及外科手术中的介入治疗(内外科镶嵌治疗)等.     

Elongation of the Aorta and Multiple Cardiovascular Abnormalities Associated with Larsen Syndrome

Larsen syndrome is a genetically heterogeneous group of disorders characterized by multiple joint dislocations and a characteristic face. We describe a girl with the typical features of Larsen syndrome. She also had associated multiple cardiovascular anomalies. The anomalies included elongation of the aorta, bicuspid aortic valve, subaortic stenosis, mitral valve prolapse with mitral regurgitation, atrial septal defect of the secundum type, and a patent ductus arteriosus.     

Spectrum of cardiovascular anomalies in Williams-Beuren syndrome

Summary This study is presented to identify and characterize the spectrum of the cardiovascular anomalies in children presenting with Williams-Beuren syndrome and cardiovascular anomalies at The Hospital for Sick Children, Toronto from 1966 to 1988. Forty-nine children were diagnosed and followed. The female to male ratio was 1.21. The age ranged from 1 month to 14 years at the time of diagnosis (mean 39 months), and follow-up periods were from 9 months to 20 years (mean 10 years). All patients having the typical features were also evaluated by geneticsts. Based on cardiovascular findings four groups were identified. Group 1 had isolated supravalvular aortic stenosis (SVAS) (28 patients). There was follow-up in 24 of these children. Six had worsening of supravalvular narrowing and underwent surgery. One showed an increased gradient from 10–40 mmHg during 7 years. Seventeen had mild narrowing and showed no progression over a period of 75 months. Group 2 had isolated pulmonary artery branch stenosis (8 patients). Seven had mild narrowing which remained unchanged over a mean period of 16 months and one underwent surgery. Group 3 had combined lesions (11 patients). Six showed increased left-side narrowing, while right-side obstruction remained static or improved. Five showed improvement in narrowing in both outflow tracts. Five underwent surgery. Additional cardiovascular anomalies included peripheral artery stenosis in two patients, coronary artery abnormalities in three, mitral valve prolapse in three, and coarctation of the aorta in two. Group 4 had isolated lesions. One patient had isolated coarctation of the aorta and one isolated mitral prolapse. In conclusion, supravalvular aortic stenosis was the most common lesion, whereas pulmonary artery stenosis improved in most patients. The role of coronary artery abnormalities has yet to be defined.     

Mitral Valve Injury During Balloon Valvuloplasty for an Infant with Severe Aortic Stenosis: Spatial Evaluation Using Three-Dimensional Echocardiography

We report on a 4-month-old infant with mitral valve injury that was induced by percutaneous balloon valvuloplasty for severe aortic valve stenosis. Three-dimensional echocardiography revealed a laceration at the anterior leaflet of the mitral valve. The mitral valve injury was successfully repaired by surgical operation 1 year after the valvuloplasty. This unexpected complication is associated with anatomical disorders of congenital aortic stenosis, including hypoplastic left ventricle, short chordae tendae, and large papillary muscles.     

Gaucher's disease with mitral and aortic involvement: Echocardiographic findings

Summary Cardiac involvement in Gaucher's disease has been reported in only a few patients, mostly adults with pericardial changes. We describe findings in two siblings with Gaucher's disease, aged 15 and 9 years respectively, in whom mitral and aortic valve lesions were evaluated by auscultation and echocardiography. In both cases the mitral and aortic valves were thick and restricted in motion. Continuous Doppler echocardiography revealed significant mitral regurgitation and mitral stenosis. At the aortic valve level there was a systolic pressure gradient. Echocardiographic investigation of patients with suspected cardiac involvement with Gaucher's disease is recommended.     

Rheumatic Fever in Children: A 15-Year Experience in a Developing Country

Clinical data from 91 patients with rheumatic fever (RF), who were hospitalized at a tertiary hospital in Lebanon between 1980 and 1995, were reviewed retrospectively. Age on hospitalization was 11.1 ± 2.9 years (mean ± SD, range 3–17 years). Nineteen patients were <6 years of age. Manifestations included carditis (93%), arthritis (39%), Sydenham's chorea (2%), erythema marginatum (4%), subcutaneous nodules (1%), fever (62%), arthralgia (55%), and acute congestive heart failure (CHF) on initial presentation (44%). Pericardial effusion occurred in 11%. There was positive family history of RF in 14%. Mitral insufficiency and aortic insufficiency occurred in 67 and 35%, respectively. Both mitral and aortic valves were involved in 30% of cases. Tricuspid insufficiency developed in 3% and pulmonary insufficiency in 1%. Mitral stenosis developed in 19%. Twenty-eight patients underwent surgical intervention: mitral valve repair and commissurotomy in 9/91 (10%), mitral valve replacement in 18/91 (20%), and aortic valve replacement in 9/91 (10%). Overall mortality was 12%: 5 following surgical intervention (3 after mitral valve surgery and 2 after mitral and aortic valve surgery). All patients that died had CHF on initial presentation (p= 0.006). This study includes hospitalized patients with predominant rheumatic heart disease. Initial presentation with CHF is a risk factor for surgical intervention and mortality. A significant high surgical intervention rate is noted that is probably related to the nature of the selected group studied. This study emphasizes the significant morbidity and death in patients with RF and carditis.     

Clinical and morphological phenotype of geleophysic dysplasia

Geleophysic dysplasia (GD) is a rare, recessively inherited lysosomal storage disorder of unknown origin with a progressive course. A 9-year-old Turkish boy born to consanguineous parents with findings typical of GD is reported. Cardiac abnormalities included mitral and aortic stenosis with aortic insufficiency. There was persistent hypo-uricacidaemia, severe pulmonary hypertension and tricuspid insufficiency. He required aortic and mitral valve replacement but, unfortunately, died of a severe pulmonary infection in the post-operative period. The condition has to be differentiated from lysosomal storage disorders such as mucopolysaccharidosis.     

Mitral valve replacement in the neonate: A report of two cases

Summary Mitral valve replacement was performed in two critically ill neonates with severe mitral stenosis and regurgitation. Both patients had coexisting severe aortic stenosis previously treated by transventricular aortic valve dilatation. Preoperative echocardiography showed a mitral annulus measuring between 11 and 12 mm in diameter—too small for any of the commercially available free-standing valve prostheses. Accordingly, the porcine valve from a commercially available 12-mm external-valved conduit was removed and sutured into position. The function of the valve was satisfactory in both cases and cardiopulmonary bypass was discontinued easily with a good cardiac output established in both. Both patients died—one at 20 h and one 36 h after surgery. In each case, the immediate cause of death was acute bleeding secondary to preexisting hepatic failure and depletion of coagulation factors. At autopsy, both prostheses had been correctly placed and were competent. Left ventricular outflow tract obstruction secondary to strut imposition was not evident. Both patients were very ill preoperatively. Although neither patient survived mitral valve replacement, we were encouraged by the relative hemodynamic improvement in the immediate postoperative period. We believe that prosthetic valve replacement could become a viable therapy for the neonate with severe mitral valve abnormalities.     

Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort

AIMS: To define the cardiovascular anomalies and the long-term outcomes in an Asian cohort with Williams-Beuren syndrome (WBS). METHODS: Data were retrieved from a retrospective chart review of patients who had a definitive diagnosis of WBS by fluorescence in situ hybridization between 1995 and 2005. All patients underwent echocardiography every 3-9 months. Ten patients underwent cardiac catheterization. RESULTS: Twenty-one patients with a total follow-up of 134 patient-years (median: 72 months) were enrolled. Characteristic dysmorphic facial features were noted in 19 patients (n = 19, 90%). All except one had associated cardiac anomalies, accounting for 0.3% (20/6640) of the patients with congenital heart disease. The spectrum of cardiac anomalies included supravalvular aortic stenosis (SVAS) (n = 15, 71%), peripheral pulmonary stenosis (PPS) (n = 12, 57%), pulmonary valve stenosis (PS) (n = 10, 47%), mitral valve prolapse (MVP) (n = 9, 43%), coarcation of the aorta (n = 4, 19%), ventricular septal defect (n = 2, 10%) and atrial septal defect (n = 1, 5%). Concurrent SVAS and PS/PPS were found in 14 (70%) patients. Only one patient required balloon dilation of PS, which improved. Regression of the stenoses occurred with a probability of 31, 90 and 71% at the age of 10 years for SAVS, PS and PPS, respectively. CONCLUSIONS: Among our WBS patients, SVAS, PPS and PS were common, and were associated with probability of spontaneous regression, especially of right-sided lesions.     

Management of Congenital Aortic Stenosis

72 patients with congenital aortic stenosis whose ages ranged from 1 month to 15 years were under supervision for periods ranging from several months to more than 9 years. The obstruction was subvalvar in 3. Additional malformations were aortic regurgitation, persistent ductus arteriosus, coarctation of the aorta, ventricular septal defect, partial anomalous pulmonary venous drainage, and mitral stenosis. Bacterial endocarditis complicated 3. Of 5 deaths unrelated to operation, 3 were sudden. Surgical treatment was carried out in 12 patients (commissurotomy, valve replacement with or without previous commissurotomy, subvalvar resection) with 2 deaths. 52 patients remained symptom-free. Detailed investigation to assess the patient for surgical treatment is indicated if symptoms are present or electrocardiographic evidence of severe left ventricular hypertrophy appears. Commissurotomy is, where possible, deferred until an age at which valve replacement can be undertaken if the stenosis cannot be adequately relieved without causing substantial regurgitation.     

婴幼儿肺静脉异位引流术后肺静脉狭窄的再干预治疗

目的分析婴幼儿肺静脉异位引流术后肺静脉狭窄(pulmonary vein stenosis,PVS)的原因,总结再干预治疗的经验。方法回顾性分析2012年5月至2019年12月郑州大学附属儿童医院胸心外科收治的13例肺静脉异位引流术后PVS患儿的临床资料。其中,男8例,女5例;年龄为(7.2±4.6)个月,范围在6~31个月;体重为(6.9±3.4)kg,范围在5.0~17.6 kg;完全性肺静脉异位引流(total anomalous pulmonary venous connection,TAPVC)术后12例,部分性肺静脉异位引流(partial anomalous pulmonary venous connection,PAPVC)术后1例。13例患儿再干预治疗前均给予心脏超声及心脏CT血管造影检查。其中,吻合口处狭窄7例,单支肺静脉狭窄4例(肺静脉于左房开口处狭窄2例,肺静脉远端狭窄1例,肺静脉近端狭窄1例),双支肺静脉狭窄(均为左侧)2例。9例采用Sutureless技术,3例采用牛心包补片扩大,1例球囊扩张后效果差后行牛心包补片扩大。结果13例患儿均顺利完成手术,住院期间死亡2例。其中,1例经体外膜肺氧合(extracorporeal membrane oxygenation,ECMO)辅助治疗3 d后因颅内出血死亡;1例因原有脑部疾病,家属拒绝使用ECMO辅助治疗,后放弃治疗。另11例患儿随访3~36个月,无延迟死亡。1例采用的Sutureless技术和1例采用中心包补片扩大患儿术后随访3年,肺静脉流速为1.6~1.9 m/s,现随访观察中。结论儿童PVS多见于肺静脉畸形术后,尤其是TAPVC术后,应早期再干预治疗。Sutureless技术能明显改善PVS的预后。     

Ventriculocoronary Artery Connections With the Hypoplastic Left Heart: A 4-year Prospective Study: Incidence, Echocardiographic and Clinical Features

Ventriculocoronary connections (VCCs), also called sinusoids, occur with hypoplastic left heart (HLH). Previous reports are limited to case reports, pathologic series, and surgical series with limited detail, which may underestimate the incidence and overestimate the severity of VCCs in HLH. A study was conducted to determine the incidence VCCs in HLH, their effect on survival, and their echocardiographic and clinical features. The echocardiograms and medical records of 100 consecutive neonatal HLH cases were analyzed. All had an aortic and a mitral valve diameter and a left ventricular (LV) volume less than Z-3. For palliation, Norwood, Sano, or hybrid procedures were used, and if the patient was alive, subsequent bidirectional Glenn and extracardiac Fontan procedures were applied. Cases were classified as manifesting mitral and aortic atresia (MAAA), mitral and aortic stenosis (MSAS), or mitral stenosis and aortic atresia (MSAA). All other diagnoses or any case with additional cardiac anomalies were excluded from the study. Overall, VCCs were found in 15% of the cases. They occurred in 56% of the MSAA subtype cases and were not statistically associated with a high mortality rate. However, in one case, large and multiple VCCs definitely caused or contributed to early death. All VCCs had a transmyocardial course, a turbulent color-Doppler flow, and a dominant usually retrograde systolic coronary artery flow pattern. The VCCs were associated (p < 0.05) with MSAA, endocardial fibroelastosis, and ascending aortic size less than 2 mm. As shown by the findings, 15% of the HLH patients had MSAA with VCCs. Unless the VCCs were large or extensive, they did not contribute to mortality. Detailed echocardiographic analysis of VCCs in HLH was feasible. Recent reports emphasize more severe cases.     

Aplasia of semilunar valve leaflets: Two case reports and developmental aspects

Summary Two fetuses of approximately 11 weeks development with aplasia of the pulmonary as well as the aortic valve leaflets are reported. Both cases showed additional cardiac malformations. Case 1, with all leaflets missing, also had double-outlet right ventricle, hypplastic left ventricle, large ventricular septal defect, straddling tricuspid valve, and atretic mitral valve. Case 2, with only one hypoplastic aortic valve leaflet, showed hypoplasia of the mitral valve and the left ventricle, and a subaortic ventricular septal defect.The observations made and data in the literature suggest that aplasia of semilunar valve leaflets reflects an underdevelopment of the endocardial cushion swellings at the ventriculoarterial junction, rather than resulting primarily from a malseptation of the cardiac outflow tract.     

Complex cyanotic congenital heart disease correctable with an intra-atrial baffle

Summary The clinical, angiocardiographic, and surgical findings in a cyanotic child with dextrocardia, L-loop, laterally inverted but otherwise normally related great arteries, and situs ambiguus are described and compared with other similar cases. Electrocardiographic, echocardiographic, and angiographic data are reviewed, and thesegmental approach to diagnosis is stressed. Both systemic and pulmonary veins returned to the right-sided atrium. Blood then passed either through the mitral valve to the morphologically left ventricle and to the aorta or through an atrial septal defect to a small left-sided atrium, right ventricle, and pulmonary artery. Total correction was undertaken with an intra-atrial baffle to direct pulmonary venous return to the morphologically right ventricle and systemic venous return to the right ventricle. The subpulmonic stenosis was alleviated with an outflow patch. Supported by Public Health Service grants HL 05846 and HL 12373     

Pulmonary venous flow from fetal to neonatal period

There are few reports about the effect of fetal or transitional circulation on the pulmonary venous flow. The purposes of this study were to investigate flow patterns of the pulmonary vein serially from fetal to neonatal period and to determine the relationship between pulmonary venous flow and other parameters from aortic and mitral valve. Pulmonary venous flow velocity was analyzed in 21 normal term human fetuses. Postnatal follow-up studies were performed at 1, 6, 24 h, 3 days, 1 week and 1 month. In each time point, pulsed Doppler echocardiography was used to interrogate right upper pulmonary vein, mitral and aortic valve. The measured parameters of pulmonary vein were heart rate, velocity time integral (VTI), and velocities at systolic peak (S), at diastolic peak (D), at nadir between S and D (O), and at nadir between D and the next S (X). E/A ratio and VTI were measured for mitral valve and peak systolic velocity and VTI for aortic valve. Pulmonary venous flow in fetus was phasic and continuous with low velocity. One hour after birth, without a change of flow pattern, all velocities increased dramatically. These high velocities showed a significant decrease during 24 h after birth. Three days after birth, the velocity decreased slightly and flow pattern changed from continuous to interrupted pattern with or without atrial reversal. No Doppler parameters from aortic or mitral valve showed any correlation with parameters from pulmonary vein. In conclusion, the flow pattern of the pulmonary vein in fetus may result from low pulmonary flow and decreased capacitance of the pulmonary venous system. Sudden increase in the pulmonary flow after birth is likely to be responsible for the highest velocities recorded immediately after birth. Left to right shunt through the ductus arteriosus may also contribute to the flow pattern observed in the first several days, as do changes in reservoir function of the pulmonary vein.     

Nitric Oxide-Associated Pulmonary Edema in Children With Pulmonary Venous Hypertension

Nitric oxide (NO)-associated pulmonary edema is rarely reported in children; in adults, it is often associated with left-sided heart failure. We report a case series of children with NO-associated pulmonary edema, which was defined as new multilobar alveolar infiltrates and worsening hypoxemia within 24 h of initiation or escalation of NO and radiologic or clinical improvement after NO discontinuation. We identified six patients (0.4–4 years old) with ten episodes of NO-associated pulmonary edema. Diagnoses included atrioventricular canal defect with mitral valve disease (n = 2), pulmonary atresia and major aorta-pulmonary collateral arteries (n = 2), total anomalous pulmonary venous return (n = 1), and pulmonary veno-occlusive disease (n = 1). All patients had evidence of pulmonary venous hypertension, and two had mitral valve disease resulting in clinical evidence of left-sided heart failure. Pulmonary edema improved or resolved within 24 h of discontinuing NO. At cardiac catheterization, mean left atrial pressure was <15 mmHg in three of three patients (none with mitral valve disease), whereas pulmonary artery occlusion pressure was >15 mmHg in two of five patients. In conclusion, we describe six young children with NO-associated pulmonary edema and pulmonary venous hypertension. Only two of these children had left-sided heart failure: Left atrial pressure as well as pulmonary artery occlusion pressure may not be helpful in identifying children at risk for NO-associated pulmonary edema.     

Aortic valvular atresia

Summary The pathological anatomy of 109 specimens of aortic valvular atresia was reviewed for the purpose of identifying the cardiovascular anomalies associated with that condition. We found the most commonly associated anomaly to be coarctation of the aorta, which was present in 71 percent of our cases and judged to be of hemodynamic significance in one-third of the involved cases. Other associated anomalies, in order of decreasing frequency, were mitral atresia, anomalous systemic and pulmonary venous connections, abnormalities of branching of the aortic arch, and ventricular septal defect. The study demonstrated that aortic atresia is associated with a significant incidence of other cardiovascular anomalies. Additional anomalies, when present, may complicate emerging attempts at surgical correction of this condition. Supported by Public Health Service Research Grant 5 RO1 HL05694 from the National Heart, Lung and Blood Institute.