Anomalous semilunar valve relationships in transposition of the great arteries

Summary We compared semilunar valve relationships of 26 normal hearts with 66 specimens with transposition of the great arteries (TGA). The TGA hearts exhibited a spectrum of dextroposition of the aorta, which brought the point of fibrous continuity between aortic and pulmonary valves 15 to 120° closer to the tricuspid annulus than in the normal specimen. Aortic dextroposition was associated with malalignment of the posterior semilunar (pulmonary) valve in relation to the aortic valve, the tricuspid and mitral valves, and to the membranous ventricular septum. Supported by HL 20132 from the National Institutes of Health.     

Dilatation von Klappen- und Gefäßstenosen

New catheter material and non-traditional access sites increased the efficacy of balloon dilation of stenosed valves and vessels. Right heart lesions such as critical pulmonary stenosis and severe pulmonary valve stenosis in childhood have a success rate of over 90%. In older children, the results of balloon dilation are excellent with a need for reintervention in less than 5% of cases and a very low mortality rate. Dysplastic pulmonary valves will need up to 45% surgical therapy. In case of Tetralogy of Fallot or complex lesions with severe pulmonary stenosis, balloon dilation of the right ventricular outflow tract can help to improve oxygen saturation. Dilatation of peripheral pulmonary arteries is associated with a high complication rate and the outcome is not always rewarding. Stent balloon implantation have a better efficacy and safety. Aortic valve stenosis with significant gradients in childhood are a clear indication for valvuloplasty. Excellent results are usually expected in 80 to 90% of patients. On the long term, valve replacement might still be warranted. In case of the critical aortic stenosis, the transvenous, antegrade access reduced the complication rate significantly. Comparison with surgical results are difficult, but the safety and mortality of both procedures seem to be comparable. Discrete native aortic coarctation as well as recoarctation in childhood can be dilated with a success rate of 65–90%. In the older patient stent implantations are preferred to balloon dilation. In the younger infants surgical management is advisable, because of very high recoarctation rate.     

Percutaneous Balloon Valvuloplasty of Both Pulmonary and Aortic Valves in a Neonate with Pulmonary Atresia and Critical Aortic Stenosis

We report a case of hydrops fetalis originating from critical aortic stenosis and pulmonary atresia with intact ventricular septum that was diagnosed in utero by echocardiography. We performed a percutaneous balloon valvuloplasty of the bilateral semilunar valves on the 2nd day after birth. We used a stiff-ended guidewire to perforate the pulmonary valve. After valvuloplasty, the aortic valve pressure gradient decreased from 55 to 25 mmHg. The procedure was successful, and the patient’s heart condition improved.     

The Doppler echocardiographic assessment of valvular regurgitation in normal children

To determine the frequency of valvular regurgitation, 174 children from birth to 18 years old (mean age 7.42+/-4.54 years), with structurally normal hearts were analyzed. Flow patterns across the four valves were examined by pulsed- (PW), continuous-wave (CW) and color Doppler. Regurgitation was detected in 59.7% of the valves. Tricuspid regurgitation (TR) was most commonly found in 32.8% (n=57), pulmonary regurgitation (PR) in 17.2% (n=30), mitral regurgitation (MR) in 8.6% (n=15), and aortic regurgitation (AR) in 1.1% (n=2). The range of peak velocities of the regurgitant flow with CW were as follows: TR:0.98-2.54 m/sec, PR:0.50-1.80 m/sec, MR:0.72-2.30 m/sec, and AR:1.22-1.25 m/sec. The mean peak velocities of the regurgitant flow were similar with CW and PW measurements (p>0.05). The length of the regurgitant flow with color Doppler was less than 1 cm beyond the mitral and aortic valves. It reached up to 1.8 cm behind the pulmonary and 1.83 cm behind the tricuspid valves. Frequency of valvular regurgitation was unchanged with age (p>0.05). Tricuspid regurgitation was more frequent in males (40.9% versus 23.5%; p=0.016). Regurgitation of tricuspid, pulmonary or mitral valves is relatively common in children with structurally normal hearts. Aortic regurgitation is scarce and the possible pathologic cause should always be carefully sought.     

Congenital Polyvalvular Cardiac Disease Without Chromosomal Abnormalities

Congenital polyvalvular cardiac disease has been reported in association with trisomies 18, 13, and 15. Ninety-three percent of trisomy 18 patients have polyvalvular disease, and 34% have all four valves involved. Four cases of polyvalvular disease without chromosomal abnormalities were studied and compared to polyvalvular disease with trisomy. In these four cases, all four valves were markedly abnormal with nodularity and redundant tissue; one aortic and two pulmonary valves were bicuspid; and one aortic, two tricuspid, and three mitral valves were unicuspid. The chordae tendineae were generally abbreviated and papillary muscles were hypoplastic. Microscopically, the valves had spongiosis, vacuolar degeneration, and a decrease in elastic fibers. Multiple other cardiac anomalies were present in each case. Three of the four cases also had significant extracardiac anomalies, which were lethal in two cases. The fourth case with no other anomalies had a history of maternal tobacco, alcohol, and cocaine abuse, with the latter being detected in fetal urine after birth. There does not appear to be a significant difference between polyvalvular disease with and without trisomy. Polyvalvular disease is usually not an isolated disorder but is associated with other intraand extracardiac anomalies.     

Herzkatheterinterventionen bei angeborenen Herzfehlern

Transcatheter therapy has gained an important role in the treatment of children with congenital heart diseases. Simple defects like atrial septal defects and patent ducts can often be cured completely by catheter interventions, while only a minority of patients with ventricular septal defects can be treated. Balloon dilatations of the pulmonary and aortic valves are well accepted interventions. Stents, sometimes covered with a membrane, are very efficient for eliminating vessel stenoses and are also increasingly being implanted in younger children with aortic coarctation. The latest development with considerable impact on the treatment of congenital heart defects is the transcatheter pulmonary valve implantation. Finally, hybrid therapy joins surgical and transcatheter interventions in one single procedure to combine the specific advantages of the respective methods.     

Multiple floppy valves with all cardiac valves prolapsing: Clinical course and treatment

Summary Two cases with prolapse of all four cardiac valves are described and compared with two similar ones previously reported. The severity and progression of regurgitation of each of the valves differed by case, despite having similar echocardiographic findings consistent with the diagnosis of multiple floppy valves. Two of the four patients had their aortic valve replaced because of severe regurgitation: the excised valves revealed myxomatous degeneration. None of the patients had any stigmata of Marfan or Ehlers-Danlos syndrome, except for the presence of hyperextensive joints. There may be an unknown collagen disorder that caused floppiness in all the valves.     

Left-sided anomalies in Ebstein's malformation of the tricuspid valve

Summary A review of 34 autopsied cases with classical Ebstein's malformation of the tricuspid valves revealed 8 cases with left-sided anomalies. Among these, appearing in 1 case each, were aortic atresia and persistent common atrioventricular canal. The latter 2 conditions were dominant clinically. In the remaining 6 cases the left-sided anomalies were not apparent clinically and probably of no functional significance. These conditions were parachute mitral valve, bicuspid aortic valve, cor triatriatum and pulmonary stenosis, cleft mitral valve, stenosis of individual pulmonary veins, and prolapse of mitral valve. This study was supported by Public Health Service Research Grant 5 RO1 HL05694 from the National Heart, Lung and Blood Institute.     

Pulmonary blood supply by a branch from the distal ascending aorta in pulmonary atresia with ventricular septal defect: Differential diagnosis of fifth aortic arch

Summary A patient with pulmonary atresia and a ventricular septal defect is described in whom an arterial branch from the distal ascending aorta supplied segments of both lungs. The branch is considered to represent a persistent fifth aortic arch. The possible morphogenesis and differential diagnosis of a communication between the ascending aorta and the pulmonary artery in pulmonary atresia with ventricular septal defect are discussed.     

Outflow Tract Abnormalities in Atrioventricular Canal Malformations

Atrioventricular canal malformations are commonly regarded as being arrests of development of normal cardiac septation since their morphology strongly resembles the normal heart of Carnegie stages 14 through 18. Similarly, the spectrum of outflow tract abnormalities, which includes truncus arteriosus, transposition of the great arteries, double outlet right ventricle, and tetralogy of Fallot, has been interpreted as a developmental arrest because these malformations resemble the normal embryonic outflow tract in Carnegie stages 14 through 18, respectively. The causes of the developmental arrests in these two classes of malformations are unknown. Observation of an unusual autopsy case with features of both atrioventricular canal defect and tetralogy of Fallot prompted us to review the outflow tract morphology in 38 hearts with an atrioventricular canal malformation and two semilunar valves to determine if there was evidence to support the idea that both conditions may have the same pathogenesis. In all 38 hearts there was fibrous continuity between an anterior mitral leaflet and an aortic valve, which by anatomic definition means that no case had truncus arteriosus, transposition of the great arteries, or double outlet right ventricle. There were three cases with coarctation of the aorta, a lesion which arises when blood flow in the pulmonary trunk exceeds aortic flow during early development. There were four cases with pulmonary to aortic valve caliber ratios similar to those found in tetralogy of Fallot but the aortic-to-pulmonary valve angle relative to the heart base ranged over the full spectrum of angles seen in normal hearts and those with tetralogy of Fallot. Furthermore, this angle showed the same range of values for partial and complete canal defects, and did not correlate with patient age or ratio of pulmonary to aortic valve caliber. We conclude that the pathogenesis of the spectrum of outflow tract developmental arrests is different from that of atrioventricular canal malformations.     

Aortic Valvar Atresia, Interrupted Aortic Arch, and Quadricuspid Pulmonary Valve: A Rare Combination

Aortic atresia and interrupted aortic arch is a rare cardiac combination. Review of the literature revealed nine cases. We present two patients with this combination and the additional finding of quadricuspid pulmonary valves, one of which was severely stenotic. In the latter patient, an aortopulmonary window was present. The other had a unique blood supply to the brachiocephalic arteries and ascending aorta from systemic collateral arteries. To the best of our knowledge, the association of a quadricuspid pulmonary valve with this combination has not been previously reported.     

Persistent Left Fifth Aortic Arch Associated with Tetralogy of Fallot

A case of persistent left fifth aortic arch, forming a congenital ``double-lumen' aortic arch, has been diagnosed on angiocardiography during life. It appeared as an unusual vascular structure running inferiorly and parallel to the ``real' aortic arch from the innominate artery to the left subclavian artery superior to the pulmonary artery. This anomaly was found in the setting of tetralogy of Fallot, an association never described before, with patent ductus arteriosus (previously reported in most cases). The left aortic arch in this case was not a source of pulmonary circulation, as described in previous cases with pulmonary atresia and ventricular septal defect, but was a systemic-to-systemic connection without functional relevance.     

Hypoplastic left heart syndrome with dysplastic pulmonary valve with stenosis

Summary A dysplastic pulmonic valve in hypoplasia of aortic tract complex has not been dealt with in the literature. The recent attempted surgical correction for hypoplasia of aortic tract complex has given some hope of survival in this entity. The integrity of the tricuspid and pulmonic valves is important while considering total surgical correction. We describe three hearts of hypoplasia of aortic tract complex with dysplastic pulmonic valve. The echocardiographic recognition and the significance of the dysplastic nature of the pulmonary valve in the light of surgery are emphasized. Aided by grant HL 30558-02 from the National Heart Lung and Blood Institute of the National Institutes of Health, Bethesda, Maryland.     

Clinical and Postmortem Findings of Two Cases With Karyotype: 48, XXX, +18

Clinical and postmortem findings of two cases with karyotype: 48, XXX, +18 are presented. In both patients the usual characteristics of trisomy 18 were found. Case 1 was complicated with congenital esophageal atresia, hypoplastic left auricle with external auditory canal atresia, left congenital dislocation of hip, and left club foot. The patient died on the 9th day after birth. Autopsy revealed mitral atresia, aortic stenosis, ventricular septal defect, patent ductus arteriosus, coarctation of aorta, bicuspid aortic and pulmonary valves, patent foramen ovale, and congenital esophageal atresia (type C). Case 2 died on the 8th day after birth. Postmortem examination revealed ventricular septal defect, but there was no other noteworthy malformation. Dermatoglyphic findings were more prominent on the right hand than the left. The severity of malformations may be biased to either the right or the left side.     

Cross-sectional echocardiographic measurements of right ventricular size and growth in patients with pulmonary atresia and intact ventricular septum

Summary Fifteen patients with pulmonary atresia or critical pulmonary stenosis and intact ventricular septum were studied. All were operated on in the neonatal period, with valvotomy or a systemic to pulmonary arterial shunt, or both. In 12 patients, right ventricular to pulmonary arterial communication was established in the neonatal period. In three patients, only systemic to pulmonary arterial shunts were constructed. Six patients died. The median follow-up period for the surviving patients was 65 months (range, 12–87 months).Right and left atrial and ventricular dimensions and areas, the tricuspid annular diameter, and the cross-sectional area of the aortic root were measured in cross-sectional echocardiograms from the neonatal period, at the age of 1 year, and at the latest clinical follow-up. A classification of right ventricular morphology was made, based on identification of the inlet, the trabecular, and the outlet parts.Most of the patients had hypoplastic right ventricles at birth but at the latest follow-up, seven of nine surviving patients had right ventricles in the normal range. Right ventricular growth was better in patients who were given a right ventricular to pulmonary arterial communication in the neonatal period and those with complete right ventricular anatomy. The patients who died had severely hypoplastic right ventricles and small tricuspid valves.     

Sudden Death in Supravalvular Aortic Stenosis: Fusion of a Coronary Leaflet to the Sinus Ridge, Dysplasia and Stenosis of Aortic and Pulmonic Valves

Supravalvular aortic stenosis (SVAS) is an uncommon congenital cardiac anomaly. We report sudden death, occurring during exercise, of a child who had SVAS with fusion of the right coronary aortic leaflet to the supravalvular aortic ridge, resulting in a closed sinus of Valsalva except for a few pinpoint fenestrations in the dysplastic leaflet. In addition, both aortic and pulmonic valves were dysplastic and stenotic. We postulate that near total isolation of the right coronary artery ostium from the aortic lumen compromised the blood supply to the hypertrophied ventricles. We emphasize the importance of other cardiac anomalies associated with SVAS as well as the development of coronary insufficiency.     

Tetralogy of Fallot with Congenital Aortic Valvar Stenosis: The Tetralogy–Truncus Interrelationship

Two rare patients are reported with tetralogy of Fallot and congenital aortic valvar stenosis. The anatomic and developmental interrelationship between tetralogy of Fallot and truncus arteriosus is summarized. A study of 100 randomly selected postmortem cases of tetralogy revealed aortic valve pathology in 8%, myxomatous aortic valve leaflets without stenosis in 4%, bicuspid aortic valves without stenosis in 3%, and congenital aortic valvar stenosis in 1%. The frequency of systemic semilunar valve pathology in truncus was much higher (66%): moderate to marked myxomatous change in 44%, mild myxomatous change in 22%, truncal valvar stenosis in 11%, and truncal valvar regurgitation in 15%. Being aware of the tetralogy–truncus interrelationship and knowing that myxomatous aortic valves are prone to premature calcific aortic stenosis and/or regurgitation, physicians should follow the aortic valves of surgically repaired patients with tetralogy of Fallot and truncus arteriosus long term with great care. Timely aortic valvuloplasty or replacement may well prove life-saving in such patients.     

马凡综合征 2 例临床及 FBN1 基因分析#br#

目的：探讨马凡综合征（MFS）的临床特点及其致病基因原纤维蛋白-1（FBN 1）突变的特点。方法回顾分析2例MFS患儿的临床资料,并复习相关文献。结果例1患儿,男,1岁10个月,特殊面容,双下眼睑水肿,高腭弓、手指及足趾细长;双肺闻及少许湿啰音,心尖部闻及收缩期杂音;彩色超声心动图示主动脉冠状窦扩张,主、肺动脉增宽,左心室憩室,二尖瓣少量反流,三尖瓣中量反流;心电图显示不完全右束支传导阻滞;基因检测FBN1基因存在c.3037G＞ A突变（p.Gly 1013 Arg）。例2患儿,男,12岁,体型瘦长,四肢表现为蜘蛛样指/趾,高度近视,主动脉瓣第一、二听诊区可闻及2/6级收缩期及舒张期杂音;心脏彩超示主动脉窦部明显增宽,主动脉瓣关闭不全,肺动脉瓣轻度返流,左室增大;基因检测FBN1存在c.1876G＞ A杂合突变（p.Gly626Arg）,该突变未见报道。结论FBN1基因检测可确诊MFS,发现一新突变c.1876G＞ A（p.Gly626Arg）。     

Formal genesis of the outflow tracts of the heart revisited: Previous works in the light of recent observations

The formal genesis of the great arteries continues to be controversial due to the lack of consensus of septation of the developing outflow tract. In order to make it clear how the great arteries are generated, we have re‐examined our previous papers which emphasized the formation of the aorta and pulmonary trunk, concept of the aorticopulmonary septum, formation of the leaflets of semilunar valves, morphogenesis of the crista supraventricularis, programmed cell death and rotation of the outflow tract. In the present paper, we compare outcomes gained from the re‐examination of our previous papers with prevalent interpretations of the arterial trunk. We obtained conclusions as follows: (i) The elongation of the fourth and sixth aortic arch arteries, which sprout from the wall of the aortic sac at the expense of the distal truncus, contributes to the formation of the aorta and pulmonary trunk; (ii) Smooth muscle cells of the tunica media of the arterial trunks do not arise from the transformation of the myocardial cells of the truncus wall (not ‘arterialization’); (iii) Truncus swellings are divided into two parts: distal and proximal. The former contributes to the separation of the orifices of arterial trunks (‘aorticopulmonary septum’). The latter contributes to the formation of the leaflets of the semilunar valves of the aorta and pulmonary trunk; (iv) The origin of the myocardial cells of the crista supraventricularis is a wall of the conus originated from secondary/anterior heart fields; and (v) There has been no acceptable proof that rotation and counterclockwise rotation are involved.     

Flow Velocity Patterns across Atrial Septal Defects Recorded with Doppler Echocardiography

ABSTRACT. During a two-year period pulsed Doppler combined with two-dimensional echocardiography was used in evaluating patients for atrial septal defects. Blood flow velocities were recorded with pulsed Doppler in the right atrium along the atrial septum, across the atrioventricular and semilunar valves and when a shunt was detected also on the left side of the phial septum. The typical flow velocity pattern most often seen is described and is related to the differences in pressure between the two atria during the cardiac cycle. Deviations from this velocity pattern are described and their hemodynamic significances discussed. Diagnosis and assessment of pulmonary hypertension from tricuspid and pulmonary flow velocities are described.