A case of congenital aortic atresia : With hypoplasia of ascending aorta,normal origin of coronary arteries,left ventricular hypoplasia and mitral stenosis

The case reported here is the tenth showing aortic atresia associated with the usual combination of defects (mitral stenosis, left ventricular hypoplasia, stenosis of ascending aorta and arch, patent foramen ovale, right ventricular and pulmonary artery dilatation and hypertrophy, enlarged ductus arteriosus, and nonpatent interventricular septum). Six additional cases in the literature show grave congenital defects (absent septums; transposition of aorta) associated with aortic atresia, making this the sixteenth recorded case of congenital aortic valvular atresia.     

Congenital transposition of the great arterial trunks

In this study, five cases of transposition of the arterial trunks are presented (Table I). There are four cases of complete transposition according to the older classification of Rokitansky, and one case of partial transposition of the arterial trunks. Thus, according to Spitzer's more recent classification there are four cases of group III, representing a lack of torsion of the arterial trunks, and one case of group II, representing partial torsion.The youngest patient was eighteen days of age and the oldest lived for seven months. In four of the five cases, the ductus arteriosus was patent but in one case it was represented by a mere fibrous cord and there was dimpling of the intimal surface of the pulmonary artery and aorta over the respective points of junction with the ductus arteriosus. In one case the foramen ovale was closed by a thin membrane, and it was but a slitlike opening in another case.The interventricular septum was intact in three of the five cases and patent in two of them. The patency was attributable to an absence of the membranous portion of the septum. Systolic murmurs were audible in four of the five cases, but the patency of the fetal passages might well account for these murmurs. In two cases there was associated situs inversus. In four of the five cases the diagnosis of congenital heart disease was made without qualification before the patient died. The electrocardiogram indicated the presence of auriculoventricular dissociation in one case in which an interventricular septal defect existed.     

Stents as Bridge to Arterial Switch Operation for D-Transposition of Great Arteries Late Presenter

We report a 5-month-old infant with dextro-transposition of great arteries (D-TGA) with intact ventricular septum (IVS) who had low left ventricular mass index, small patent ductus arteriosus (PDA), and stretched patent foramen ovale. The patient had respiratory failure due to pneumonia. The surgical intervention was considered very high risk. Thus, the patient underwent PDA stenting with balloon predilation technique followed by atrial septal stenting with false impression of dislodgement—“pseudo-dislodgement” because of inadvertent retraction of patent foramen ovale that was confirmed by transthoracic echocardiography guidance. After the procedure, the left ventricular mass index improved and patient was planned for arterial switch operation. The combined approach of PDA and atrial septal stenting may provide potential nonsurgical method of ventricular preparation for D-TGA/IVS late presenter, acting as a bridge to arterial switch operation especially those living in remote areas.     

Aortic atresia with normal left ventricle and intact ventricular septum.

We report a case of aortic atresia with biventricular hypertrophy and death due to cardiac insufficiency (at 5 1/2 days of age). In the necropsy a normally sized left ventricle was observed, with endocardiac fibroelastosis, anomalous mitral arcade, intact interventricular septum and atresia of the aortic valve. The ascending aorta was moderately hypoplasic; there was a foramen ovale and persistent ductus arteriosus. We believe that this is the first case that has been reported of this anomaly occurring with a normal left ventricle and intact ventricular septum.     

Anomalies associated with the parachute mitral valve: a pathologic analysis of 52 cases

Fifty-two specimens of heart with parachute mitral valve were reviewed. An associated anomaly was present in all but two patients. In these two patients parachute mitral valve was an isolated anomaly. The associated anomalies were divided into those which form part of the developmental complex described by Shone and associates and other anomalies designated as major anomalies. Normally related great vessels were present in 35 cases, double outlet right ventricle in eight cases, complete transposition in four cases, corrected transposition and single ventricle in two cases each and straddling tricuspid valve in one case. The most common associated anomaly was an interventricular communication occurring in 37 cases. Less common anomalies were an atrial septal defect (18 cases), patent ductus arteriosus (21 cases), complete atrioventricular canal (five cases), right-sided obstructive anomalies (13 cases) and left-sided obstructive anomalies other than those as part of the Shone syndrome (11 cases).     

Valve-incompetent foramen ovale in premature infants with ductus arteriosus: a Doppler echocardiographic study

In a 1 year period, 56 neonates with a clinical diagnosis of ductus arteriosus had Doppler echocardiographic confirmation of the ductus; 33 (59%) had additional, turbulent left to right flow at the atrial level through a valve-incompetent foramen ovale. Normalized left atrial dimensions in the group with the atrial shunt were significantly larger than when there was a competent foramen ovale; when the ductus closed and left atrial enlargement receded, the atrial shunt disappeared. However, several infants with large left chambers had no interatrial shunting. When the atrial shunt was present, there were up to three flow pulses, corresponding to atrial systole, ventricular systole and ventricular diastole, but these were frequently fused into two pulses or even one pulse per cycle. The atrial septal morphology provided supporting clues: general bowing of the septum or a localized bulge in the region of the foramen ovale indicated relatively high left atrial pressure, and frequently a slitlike dropout could be seen at the superior edge of the foramen. During the study, three additional neonates with a ductus arteriosus were found to have a secundum atrial septal defect with a typical echographic image, "matchhead" appearance of the septal rim of the defect, but the Doppler flow patterns were indistinguishable from those of a valve-incompetent foramen ovale. The hemodynamic effects of the interatrial shunt, from either cause, seemed slight during the hospital course, but the presence of a valve-incompetent foramen ovale indicated a relatively large ductal shunt. Quantification of the ductal shunt, however, continues to rely primarily on measurement of the left atrial and ventricular size.     

Congenital heart surgery

In reviewing selected publications on congenital heart disease management for 1990 and 1991, some topics have been chosen for discussion, including isolated patent ductus arteriosus, coarctation of the aorta, critical aortic stenosis in early infancy, hypoplastic left-heart syndrome, pulmonary artery banding, Fontan procedures, pulmonary atresia and intact ventricular septum, Ebstein's anomaly, tetralogy of Fallot, transposition of the great vessels, and others.     

Pulsed doppler echocardiographic evaluation of the cyanotic newborn: Identification of the pulmonary artery in transposition of the great arteries

During M mode echocardiographic evaluation of cyanotic newborn infants, one may find two ventricles and two great vessels, but not have proof of their identity. Identification of the great vessels is important in evaluation of possible transposition of the great arteries. In a series of 68 cyanotic neonates pulsed Doppler echocardtography was applied to test the hypotheses that (1) a patent ductus arterlosus in present in most cyanotic neonates, (2) the great vessel that receives diastolic ductal flow is the pulmonary artery, and (3) specific noninvasive identification of pulmonary artery will allow diagnosis or exclusion of transposition of the great arteries. On M mode examination, the relations of the great vessels were normal in 43 infants; in all, pulsed Doppler echocardiography detected a patent ductus arteriosus flowing into a normally positioned pulmonary artery. The cyanosis in these 43 patients was later proved to be of pulmonary origin. In eight infants, the relation of the great vessels suggested transposition, and in all eight, Doppler echocardiography detected a patent ductus flowing into the posterior great vessel, proved at angiocardiography to be the transposed pulmonary artery. In 17 patients, the relation of the great vessels was front to back, neither “normal” nor suggestive of classic d transposition. A patent ductus arterlosus, detected with pulsed Doppler echocardiography in all 17, flowed into the anterior great vessel in the 14 normal infants, and flowed into the transposed pulmonary artery in the 3 with proved transposition. It is concluded that ductal patency is prevalent in cyanotic neonates, and that pulsed Doppler echocardiographic detection of ductal flow can define the pulmonary artery; such definition is most helpful in resolving the question of transposition in infants with a relation of the great vessels that is neither normal nor suggestive of transposition.     

Congenital aortic and mitral atresia: Report of a case and review of the literature

A case of congenital mitral and aortic atresia, associated with hypoplasia of the left atrium and ventricle and compensating patencies of the interatrial foramen and ductus arteriosus, is described. The anomaly is attributed to a developmental misplacement of the interventricular septum. No evidence was found to indicate an inflammatory cause for the defect.     

Platypnea-orthodeoxia syndrome related to an aortic aneurysm combined with an aneurysm of the atrial septum

We report the case of a 71-year-old man bearing a severe right-to-left shunt through a patent foramen ovale in the absence of elevated right-sided heart or pulmonary artery pressures. He presented with platypnea-orthodeoxia syndrome, but he had no pulmonary or extracardiac diseases that are known to be associated with this syndrome. Chest radiography showed a bulky aneurysm of the thoracic aorta. A peripheral contrast transesophageal echocardiography demonstrated a large right-to-left shunt through a patent foramen ovale. In addition, the atrial septum was severely deformed by an aneurysm including this patent foramen ovale. We hypothesized that the opening of the foramen ovale was the result of a mechanical deformation of the atrial septum by two contributing factors: the aneurysm of the thoracic aorta and the aneurysm of the septum itself.     

A case of platypnea-orthodeoxia syndrome caused by the interaction between the presence of corrected transposition of the great arteries and patent foramen ovale

A 42-year-old was admitted to our institution for recurrent episodic dyspnea on exertion. The patient had also a history of recurrent transient ischemic attacks. Careful history taking revealed that she developed dyspnea in an upright position, whereas the symptoms were relieved in a supine position (platypnea). The patient was given the diagnosis of platypnea-orthodeoxia syndrome. Transthoracic echocardiography showed cardiac situs solitus levocardia with great artery transposition with intact interventricular septum, patent foramen ovale (PFO) and moderate right atrial dilatation. Agitated saline contrast injection demonstrated the presence of spontaneous right-to-left shunt. The patient underwent transcatheter closure of PFO. After percutaneous closure of PFO patient became asymptomatic and hypoxemia induced by orthostatic conditions did not appear again. A transthoracic echocardiography performed after two months, showed the complete closure of PFO, without residual shunt.     

Hypertensive pulmonary vascular disease in alpha-transposition of the great arteries

In subjects with classic complete transposition (d-transposition) of the great arteries, the pulmonary arterial plexiform lesion, characteristic of chronic high levels of pulmonary arterial pressure, was observed in those with an intact ventricular septum as well as in those with a ventricular septal defect. The lesion was not observed before age 12 months. Among 16 patients aged 12 to 30 months, the plexiform lesion was observed in 6 of 12 patients (50 percent) with an intact ventricular septum and a closed ductus arteriosus and in 1 of 4 patinets with an associated ventricular septal defect. The basis of the plexiform lesion, which is considered a sign of chronic severe pulmonary hypertension, occurring in subjects with an intact ventricular septum and a closed ductus arteriosus is not explained. The phenomenon observed in this study confirms the earlier observations of others.     

室间隔缺损并发畸形的发生率和超声心动图检测的漏诊分析

目的 :探讨室间隔缺损并发畸形的发生率及超声心动图漏检并发畸形的原因。方法 :对 379例非复杂性先心病室缺并发畸形的超声心动图检测结果与手术所见进行比较。结果 :较常见的非复杂性先心病室缺并发畸形的发生率为 36.0 % ,为卵圆形未闭、房缺、动脉导管未闭、右室流出道狭窄、右室双腔心及肺动脉瓣狭窄。超声心动图比较容易漏诊的室缺并发畸形为卵圆孔未闭、右室流出道狭窄及一些少见并发畸形。结论 :彩色多普勒超声心动图对室缺并发畸形具有一定的漏诊率 ,注意全面扫查及改进探查技巧有助于提高室缺并发畸形的检出     

Atrial defect size after Blalock-Hanlon atrioseptectomy

In transposition of the great arteries, a Blalock-Hanlon closed atrial septectomy is performed to improve intracardiac mixing at the atrial level. Although the Blalock-Hanlon septectomy is a common surgical procedure in cyanotic congenital heart disease, it has not been adequately assessed pathologically. In 14 heart specimens from patients (aged 3 days to 19 years) with transposition of the great arteries and Blalock-Hanlon septectomy, the margins of the septectomy, fossa ovalis and atrial septum were identified. The total area of the septum and its defects was calculated using planimetry. The ratio of defect size to atrial septal area was expressed as percent communication, which ranged from 5 to 39 (mean 18) percent in eight specimens with intact limbus of the foramen ovale and 26 to 57 (mean 42) percent in six specimens in which the limbus had been excised. The finding that specimens in which the Blalock-Hanlon defect extended into the fossa ovalis had the largest total communication emphasizes that to obtain optimal bidirectional atrial mixing the surgeon should extend the Blalock-Hanlon procedure across the limbus into the foramen ovale.     

The pulmonary vascular bed in patients with complete transposition of the great arteries.

Histological material obtained at autopsy from 35 patients over three months of age with complete transposition of the great arteries (TGA) was examined. Two of six patients less than a year of age with an intact ventricular septum and closed ductus arteriosus were found to have pulmonary vascular changes of at least grade 3 severity; in addition, two of seven patients with a large ventricular septal defect in this age group showed changes of similar severity. The reported low incidence of marked pulmonary vascular changes in patients with only an interatrial communication dying during the first year of life would appear to be due in part to the high proportion of cases less than three months old in whom there was not sufficient time for such changes to develop. Although the incidence is not as high as that found beyond a year of age, it is sufficiently high to influence the management of infants beyond three months of age. Hemodynamic studies were performed following atrial baffle repair in 34 patients. All but one of the 16 patients operated upon prior to two years of age had a pulmonary arteriolar resistance (Rpa) less than 3 units M2 at the time of review, including three with a large communication at ventricular or great vessel level who underwent surgery before two months of age. Repair at an older age did not preclude a low Rpa on follow-up, but in 11 of the 18 patients who were two or more years of age at the time of repair it was greater than 3 units M2. None of these latter patients had a large ventricular septal defect or patent ductus arteriosus. Comparison of postoperative hemodynamic data with autopsy studies would suggest that advanced pulmonary vascular disease is associated with earlier death among patients with complete transposition of the great arteries.     

BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease.

The aim of the present study was to determine if patients with both pulmonary arterial hypertension (PAH), due to pulmonary vascular obstructive disease, and congenital heart defects (CHD), have mutations in the gene encoding bone morphogenetic protein receptor (BMPR)-2. The BMPR2 gene was screened in two cohorts: 40 adults and 66 children with PAH/CHD. CHDs were patent ductus arteriosus, atrial and ventricular septal defects, partial anomalous pulmonary venous return, transposition of the great arteries, atrioventicular canal, and rare lesions with systemic-to-pulmonary shunts. Six novel missense BMPR2 mutations were found in three out of four adults with complete type C atrioventricular canals and in three children. One child had an atrial septal defect and patent ductus arteriosus; one had an atrial septal defect, patent ductus arteriosus and partial anomalous pulmonary venous return; and one had an aortopulmonary window and a ventricular septal defect. Bone morphogenetic protein receptor 2 mutations were found in 6% of a mixed cohort of adults and children with pulmonary arterial hypertension/congenital heart defects. The current findings compliment recent reports in mouse models implicating members of the bone morphogenetic protein/transforming growth factor-beta pathway inducing cardiac anomalies analogous to human atrioventricular canals, septal defects and conotruncal congenital heart defects. The small number of patients studied and the ascertainment bias inherent in selecting for pulmonary arterial hypertension require further investigation.     

Hemodynamic evaluation before and after balloon atrial septostomy in patients with transposition of the great arteries using pulsed Doppler echocardiography

In nine patients with transposition of the great arteries, hemodynamic changes after the initial balloon atrial septostomy (BAS) were investigated using pulsed Doppler echocardiography and cardiac catheterization. Patients consisted of five males and four females, who ranged in age from zero to 82 days (median, one day). All but one who had ventricular septal defect had no associated cardiac anomalies other than patent ductus arteriosus. Prostaglandin E1 was administered before and after BAS to four patients who had hypoxemia. At cardiac catheterization, right and left atrial pressures and arterial oxygen partial pressure were measured. Using pulsed Doppler echocardiography, the time-velocity curve was recorded at the tricuspid and mitral valves, pulmonary artery, ascending aorta and interatrial septum. The maximum diastolic velocity was measured from the tricuspid and mitral valve time-velocity curves. The product of the time-velocity integral and heart rate was measured from the time-velocity recordings at the pulmonary artery and ascending aorta. The duration of the left-to-right shunt at the foramen ovale was measured and was normalized by corresponding R-R intervals on the electrocardiogram. After BAS, left atrial pressures and pressure gradients between both atria decreased significantly (p less than 0.01). Arterial oxygen partial pressure increased from 24.4 +/- 7.2 to 40.4 +/- 6.0 mmHg (p less than 0.01). The maximum flow velocity at the tricuspid valve increased significantly (p less than 0.01), but that at the mitral valve showed no significant change after BAS. The velocity time integral of the aorta increased significantly (p less than 0.01), but that of the pulmonary artery did not.(ABSTRACT TRUNCATED AT 250 WORDS)     

Stenting the patent arterial duct to increase pulmonary blood flow

BACKGROUND: Use of surgically created aoropulmonary shunt is well-established for improving pulmonary blood flow in infants with critical reduction in pulmonary blood flow. Recently, stenting the patent ductus arteriosus has emerged as an alternative in selected infants with congenital heart disease and reduced pulmonary blood flow. METHODS AND RESULTS: We reviewed records of consecutive infants undergoing stenting of patent ductus arteriosus between August 2003 and October 2005 at our institution. Two of 12 patients underwent patent ductus arteriosus stenting to facilitate preparation of left ventricle for transposition with intact septum. We report the case selection, technique, immediate and short-term follow-up outcome in the remaining 10 patients [median age: 16 days (range 4-290 days): weight 2.7 kg (range 2-6 kg)] with reduced pulmonary blood flow who underwent stenting of patent ductus arteriosus as an alternative to conventional surgical aortopulmonary shunts. Five of the 6 newborns were prostaglandin-dependent and 4 had previously undergone guidewire perforation of the pulmonary valve (n=2) or balloon dilation (n=2). Successful stent implantation was accomplished in all with no major patient-related complication (median fluoroscopy time: 18.6 min; range: 7.7-72 min). The intensive care unit and hospital stays were prolonged in 3 patients because of sepsis (n=2) and pulmonary over-circulation with sepsis (n=1). On follow-up (median 5.5 months; range 1-19 months) all implanted stents were patent. One patient underwent re-dilation of the implanted stent for declining saturations. CONCLUSIONS: The immediate and short-term follow-up results of stenting of the patent arterial duct, as an alternative to the surgical aortopulmonary shunt in carefully selected newborns and infants is encouraging.     

Percutaneous closure of the small patent ductus arteriosus using occluding spring coils

Objectives. This report summarizes our experience with the use of occluding spring coils to close the small patent ductus arteriosus.Background. Several patent ductus arteriosus occluders (most notably the Rashkind device) have been developed and studied. Occluding spring coils have been used to close abnormal vessels and vascular connections. We previously reported the use of occluding spring coils to close the small patent ductus arteriosus in a small group of patients. This report describes our series of patients having patent ductus arteriosus closure with occluding spring coils.Methods. Between June 1990 and June 1993, 30 patients underwent cardiac catheterization to have patent ductus arteriosus closure by occluding spring coils. Selection criteria were age >6 months and narrowest patent ductus arteriosus internal dimension ⪯3.0 mm by color flow imaging. Definitive selection was based on review of aortograms performed at catheterization. A 5.2F coronary catheter was used to deliver one or two standard occluding spring coils. A loop was delivered in the main pulmonary artery, and the remainder of the coil was delivered across the patent ductus arteriosus and into the aortic diverticulum. Patent ductus arteriosus closure was confirmed by aortography or color flow imaging, or both. Follow-up after coil placement occurred at 6 weeks and 6 months and included two-view chest radiography, echocardiography and color flow imaging.Results. Of the 30 patients, 29 had successful implantation by one (27 patients) or two (2 patients) occluding spring coils. Of these 29 patients, 19 had a clinically apparent and 10 had a silent patent ductus arteriosus. Average ductus minimal internal dimension was 1.7 mm (range 1.0 to 3.0). Complete closure of the ductus was confirmed in 27 patients by aortography or color flow imaging or both (in 24 within 4 h, in 2 after 6 weeks and in 1 after 6 months). Six weeks after implantation, two patients had a tiny residual patent ductus arteriosus noted on color flow imaging. One patient did not have successful implantation. This patient had a 3.2-mm ductus, and two coils migrated to the distal left pulmonary artery and could not be retrieved. There were no deaths or any significant complications noted during early or late follow-up in these patients.Conclusions. Occluding spring coils may have additional application in closing the small patent ductus arteriosus.     

Phonocardiography of the human fetus

From our work evidence has been obtained of the variability of normal heart sounds before and after birth. An early systolic murmur is almost universal in early infancy, according to our criteria for the recognition of a murmur.Among thirty-three subjects upon whom fetal heart sound observations were made, twelve presented no murmurs, seventeen showed an early systolic murmur only. Seven showed other systolic and diastolic murmurs which apparently could not be used as indications of congenital heart lesions as seen after birth, and may represent currents through the patent foramen ovale and ductus arteriosus.One case illustrated certain criteria of a congenital heart lesion before birth. These criteria agreed in general with those of Hoehne but were more specific in recognition of the particular valve lesion noted in this case, namely pulmonic stenosis. The unique feature of this case was a high-pitched murmur throughout the whole of systole. This was totally unlike any of the murmurs recorded by us either in children or adults in cases other than those diagnosed clinically as classical pulmonic stenosis.A surprising fact disclosed in this investigation was that in the normal fetus with a patent foramen ovale and ductus arteriosus, murmurs were not consistently found. Presumably it requires either abnormal pressure relationships, developmental defects occurring relatively early in intrauterine life, or both, to produce the auditory signs of a congenital lesion of the recognizable patent ductus arteriousus type as seen after birth. This theory is not original but receives support from the observations here recorded.