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The aim of our project was to study possible etiological factors in the origin of congenital heart defects (CHDs) because in the majority of patients the underlying causes are unclear. Cases with different CHD entities as homogeneously as possible were planned for evaluation in the population-based large data set of the Hungarian Case Control Surveillance of Congenital Abnormalities. Dead or surgically corrected 302 live-born cases with different types of left-ventricular outflow tract obstructive defects (LVOT, i.e., valvular aortic stenosis 76, hypoplastic left heart syndrome 76, coarctation of the aorta 113, and other congenital anomalies of aorta 32) were compared with 469 matched controls, 38,151 controls without any defects, and 20,750 malformed controls with other isolated defects. Medically recorded pregnancy complications and chronic diseases were evaluated based on prenatal maternity logbooks, whereas acute diseases, drug treatments, and folic acid/multivitamin supplementation were analyzed both on the basis of retrospective maternal information and medical records. The results of the study showed the role of maternal diabetes in the origin of LVOT in general, while panic disorder was associated with a higher risk of hypoplastic left heart syndrome and ampicillin treatment with a higher risk of coarctation of the aorta (COA). High doses of folic acid had a protective effect regarding the manifestation of LVOT, particularly COA. In conclusion, only a minor portion of causes was shown in our study; thus, further studies are needed to understand better the underlying causal factors in the origin of LVOT.

Background: The degree of involvement of left ventricular inflow tract obstruction is the predominant factor determining outcome in Shone's anomaly. In this series of patients with Shone's anomaly, we evaluated the impact of mitral valve (MV) repair strategies performed to correct the components of this anomaly on growth of the valve and long-term functional outcome in children., Methods: In the last 25 years, 45 children, mean age 5.16 ± 5.0 years (median, 3.9; range, 2 months-16.8 years), underwent surgical correction of Shone's anomaly. Coarctation of the aorta was found in 40%, subaortic stenosis due to fibromuscular hypertrophy was found in 55%, and subvalvar membrane was found in 66% of these patients. Left ventricular inflow tract obstruction was brought about by fused commissures with dysplastic and shortened chordae in 53.3%, valve hypoplasia in 11.1%, supravalvar mitral ring in 100%, and parachute valve in 17.8 of patients%., Results: Various repair strategies were performed according to the presenting morphologic characteristics in patients with either previously corrected or concomitant correction of the left-sided obstructive lesions. Mean duration of follow-up was 17.5 ± 1.5 years. Freedom from reoperation was 52.8% ± 11.8%, wherein 23 patients underwent repeated MV repair and 1 patient underwent MV replacement after failed attempts at repair. The cumulative survival rate was 70.3% ± 8.9% at 15 years. Severity and type of mitral abnormalities, left ventricular outflow tract lesions, and pulmonary hypertension are risk factors for reoperation and mortality (p < 0.05)., Conclusions: Repair allowed growth of the MV. Long-term outcome of MV repair in Shone's anomaly is related to the degree that the obstructive lesions can be relieved., (Copyright © 2013 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Left ventricular outflow tract obstruction (LVOTO) comprises a spectrum of stenotic lesions. Previous studies have shown that the vascular endothelial growth factor (VEGF) signaling system plays a critical role in cardiac cushion formation, vasculogenesis, and angiogenesis. We hypothesize that VEGFA may be a potential candidate gene associated with the spectrum of LVOTO lesions. However, it remains unclear whether the VEGFA gene is responsible for the development of LVOTO malformations. In this study, we identified three exon mutations in the VEGFA gene in three of 192 nonsyndromic LVOTO patients, and the overall mutation frequency was 1.6% (3/192). The c.454C>T (p.Arg152X) nonsense mutation and c.19&#95;22dupGACA (p.Thr8ArgfsX78) internal tandem duplication mutation each introduced a premature stop codon and are predicted to produce a truncated VEGFA protein. The c.998G>A missense mutation changes a highly conserved arginine to a glutamine at residue 333 (p.Arg333Gln). These mutations were carried by some family members, and average penetrance was 33.3%. The present study suggests, for the first time to our knowledge, that VEGFA mutations may be associated with congenital LVOTO malformations. We provide evidence that LVOTO is likely oligogenic., (Copyright (c) 2010 Elsevier Inc. All rights reserved.)

We describe the treatment of a 16-year-old girl with calcific aortic stenosis, porcelain aorta, and calcific mitral stenosis with insufficiency using a valved apicoaortic conduit and mitral valve prosthesis. Both valve replacements were porcine bioprostheses, and the apicoaortic conduit was implanted without the use of cardiopulmonary bypass. In cases in which the degree of aortic calcification pre-empts manipulation of the coronary ostia, an apicoaortic conduit may offer a viable solution to improve left ventricular outflow obstruction.

Background: Percutaneous pulmonary valve implantation (PPVI) has been introduced as therapy for right ventricular (RV) to pulmonary artery conduit dysfunction in patients with congenital heart disease. It has been shown that RV systolic function improved early after PPVI. The effects of PPVI on RV diastolic function and RV hypertrophy have not yet been studied., Purpose: The objective of this study is to assess early and late changes in systolic and diastolic RV function and RV mass after PPVI., Materials and Methods: Fourteen patients underwent PPVI (7 male, median age 15 years). Cardiac magnetic resonance imaging was performed before and at 2 time points after PPVI (at 1 and 16 months). Right ventricular volume and systolic and diastolic function as well as RV mass were assessed., Results: At 1 and 16 months after PPVI, the RV mass decreased from 28.6 +/- 2.1 to 25.6 +/- 2.2 g/m(2) (P = .03) and to 22.3 +/- 2.1 g/m(2) (P = .002). E/A volume ratio increased from 1.91 +/- 0.4 to 2.6 +/- 0.4 (not significant [NS]) and to 3.3 +/- 0.4 (P = .01). E/A peak flow ratio increased from 1.34 +/- 0.14 to 1.48 +/- 0.16 (NS) and to 1.73 +/- 0.14 (P = .04). E-wave deceleration time increased from 142 +/- 25 to 160 +/- 27 milliseconds (NS) and to 211 +/- 26 milliseconds (P = .007). At 1 month, RV end-diastolic volume decreased from 124 +/- 8 to 113 +/- 8 mL (P = .01) and RV ejection fraction increased from 36% +/- 2% to 46% +/- 2% (P = .001) without further improvement at 16 months., Conclusion: After PPVI, in contrast to rapid improvement of RV systolic function, the improvement of RV diastolic function is delayed. The reduction of RV mass appears to be the underlying mechanism for improvement of RV diastolic function. Long follow-up for patients with PPVI is recommended.

Objective: Many congenital cardiac anomalies present with accompanying severe right ventricular outflow tract (RVOT) obstruction or interruption requiring surgical correction. RVOT reconstruction by means of a conduit is often necessary in the majority of these patients in the early years of life and there are several proposed conduits for this purpose., Methods: Fourteen patients with different congenital cardiac pathologies underwent RVOT reconstruction with the newly developed bovine valved jugular vein conduit (The Contegra conduit). The function of the conduit is observed by echocardiographic examinations at the hospital discharge and at follow-up visits with special attention to the function of the venous valve and to any gradient on the RVOT., Results: There were two perioperative mortalities. All the surviving patients are followed for a mean period of 8.07 months (range 2 to 33 months). The function of the venous valve was determined, in 4 patients (33.33%) as without regurgitation, in 7 patients (58.3%) as mild regurgitation and in 1 patient (8.33%) as mild-to-moderate regurgitation. The reconstructed RVOT was free of any significant gradient at the hospital discharge (mean 10.83 +/-10.18 mmHg) and at the follow-ups (mean 12.916 +/-12.33 mmHg). There was not a trend towards an increase in the gradients following discharge., Conclusion: The early results of the Contegra valved conduit are very satisfactory. This graft can be a good alternative for RVOT reconstruction, particularly in the neonatal and infant patient group. These patients can be managed by homograft replacement of their conduit in later years.

Interrupted aortic arch is a complicated congenital heart defect. Because of its anatomic features, the conventional cardiopulmonary bypass (CPB) procedure is not suitable for the surgery of this type of lesion. Thus, we conducted a retrospective study of CPB in surgery for the disease. Ten patients with interrupted aortic arch underwent surgery by one of three different CPB methods, including profound hypothermia with circulatory arrest in four cases, profound hypothermia with low flow rate in five cases, and normothermia in one case. In profound hypothermic CPB, both ascending aorta and main pulmonary artery were cannulated. Through these two cannulas, the flow was pumped to the upper and lower body separately to cool down the body temperature. After cooling, the main pulmonary artery cannula was removed and interrupted aortic arch was corrected either under low flow rate perfusion or under circulatory arrest. After this, the other intracardiac lesions were repaired under conventional CPB. At the end of CPB, one patient demonstrated third-degree atria-ventricular block and required reinstituting CPB and a second procedure to repair the ventricular septal defect (VSD). In the intensive care unit, one patient developed lung infection and dyspnea after extubation that required intubation and mechanical ventilation for another several days. Another patient required 3 days of peritoneal dialysis caused by low cardiac output, hyperkalemia, and oliguria. All patients survived. The mechanical ventilation times were from 8 hours to 8 days and stays in the intensive care unit were from 4 to 12 days. Profound hypothermic cardiopulmonary bypass either with low flow rate or with circulatory arrest is equally the preferable choice for the surgery of interrupted aortic arch.

Most congenital cardiovascular malformations have their origins during early morphogenesis, and some forms of adult-onset cardiovascular disease also arise during embryonic development. Conotruncal heart defects comprise a major category of congenital heart disease and are found in children with a relative high frequency. These defects are associated with a high mortality risk in utero, and after postnatal surgical repair; embryologically they are linked with dextroposed aorta, which is an anomaly of the ventricular outflow tract with malalignment of the great arteries. The etiology and pathogenesis of dextroposed aorta is not known but is thought to be due to abnormal looping and/or incorrect "wedging" of the outflow tract (i.e., wedged positioning of the aorta between the atrioventricular valves) during early heart development. We have studied the morphology and visual development of the embryonic heart in an animal model of dextropsed aorta in a series of experiments to determine possible mechanisms for dextropositioning of the aorta. At this, we have employed besides established methods for analysis of anatomy and pathology (morphological studies, cardiac morphometry, histology, scanning electron microscopy and immunhistochemistry) also new imaging techniques (videocinephotography and time-lapse studies with a digital high-speed video camera, confocal and scanning electron microscopy, optical coherence tomography (OCT) and magnetic resonance microscopy (MRM) for 3D reconstruction of the heart) to achieve a better visualization of normal and pathological changes during heart development. The paper at hand summarizes the results of these studies.

Accessory mitral valve (AMV) is a rare cause of left ventricular outflow tract (LVOT) obstruction and is extremely rare in adults. We report a case of an older adult with an AMV that caused severe LVOT obstruction. A parachute-like piece of tissue (the AMV) protruding into the LVOT during systole was first detected in a 45-year-old woman by echocardiography. Because the pressure gradient and dyspnea gradually progressed, she finally underwent a successful operation for removal when she was 48 years old.

Traditionally, all patients undergo cardiac catheterization before bidirectional cavopulmonary anastomosis (BCPA). The purpose of this study was to determine if preoperative catheterization is necessary when echocardiographic parameters appear favorable. A retrospective review was performed of all patients who underwent BCPA (n = 142) between February 1996 and May 2001. Echocardiographic criteria defining a favorable BCPA candidate included good ventricular function, moderate or less atrioventricular and semilunar valve regurgitation, absence of ventricular outflow tract obstruction, normal proximal branch pulmonary artery (PA) size, and low PA pressures estimated by PA band gradient or systemic PA shunt velocity. The median age at operation was 7 months (range: 2-11) and weight was 6.2 kg (range: 2.7-7.1). There were 73 unfavorable candidates. Patients with hypoplastic left heart syndrome (n = 23) and pulmonary atresia with intact septum (n = 15) predominated among the unfavorable group. All patients were catheterized. This provided additional information on PA pressures in 3 patients in the favorable group but did not defer operation or influence outcome (no mortality, prolonged pleural drainage, or longer intensive care department stay). All 3 patients are alive at a mean follow-up of 51 months. The 30-day mortality was 2% (4 of 151 patients), all in the unfavorable group. Overall, 20 patients (13%) required arterioplasty of PAs at the time of BCPA. BCPA can be performed with a low risk of morbidity and mortality in a wide range of patients. By using commonly acquired echocardiographic parameters, a low-risk subgroup of patients can be identified who can safely avoid preoperative cardiac catheterization.

An infant with subvalvar and valvar pulmonary stenosis, subvalvar, and valvar aortic stenosis and hypertrophic cardiomyopathy, who presented with pulmonary hemorrhage, is reported. He had right ventricular hypertrophy, thickened pulmonary valve leaflets, severe asymmetric left ventricular hypertrophy with outflow tract obstruction, and a thickened and dysplastic aortic valve.

Background: In patients with abnormal ventriculo-arterial connections, a mitral valve cleft different from an atrioventricular canal is occasionally associated. It may cause outflow obstruction, mitral regurgitation, and complicate biventricular repair., Methods: A retrospective review identified 21 patients operated upon with mitral valve cleft, abnormal ventriculo-arterial connections, and two well-developed ventricles. Eight patients had a ventricular outflow obstruction due to the mitral valve, whereas 2 had more than mild mitral regurgitation. One patient required initial mitral valve surgery. Eleven patients underwent biventricular repair, associated with mitral valve repair in 2 cases: arterial switch operation (n = 4), Senning operation (n = 3) associated with an arterial switch operation in one case, intraventricular repair (n = 3), and Rastelli-type extracardiac conduit repair (n = 1). Single-ventricle palliation was preferred in 10 patients with major mitral valve straddling (n = 5), outflow tract obstruction (n = 2), and noncommitted or multiple VSDs (n = 3)., Results: There were three hospital deaths, two of which occurred after biventricular repair and one after an early reoperation after a bidirectional cavopulmonary anastomosis. Postoperatively after biventricular repair, 1 patient required permanent pacemaker implantation and 3 patients were reoperated on for subaortic stenosis (n = 1) and mitral regurgitation (n = 2), with one late death. By multivariate analysis, patients with a double-outlet right ventricle were at greater risk of death (p = 0.04). After a mean follow-up period of 60.7 months (+/- 68.6 months), 16 patients are in New York Heart Association (NYHA) class I. One patient with a moderate mitral regurgitation on Doppler study is in NYHA class II., Conclusions: The surgical management remains controversial in patients with abnormal ventriculo-arterial connections and mitral valve cleft. Biventricular repair may not always be feasible, especially in cases of complex intracardiac anatomy associated with mitral valve straddling. Single-ventricle palliation can be achieved in these patients, although it is unknown whether the long-term results are as good as those obtained with biventricular repair.

Background and Aims of the Study: Current techniques to correct valvular anomalies of the right ventricular outflow tract (RVOT) include repair and replacement of the pulmonary valve. However, the performance of currently used conduits has been less than ideal because of unfavorable hemodynamics and mid- to long-term complications. An early experience with a totally integrated Contegra valved conduit derived from a bovine jugular vein is reported; this conduit has the advantage that there is no discontinuity between its lumen and the valve it incorporates., Methods: Between October 1999 and October 2001, a total of 22 Contegra valved conduits (12-22 mm) was implanted in 21 children aged <5 years, and in one patient aged 21 years. Diagnosis included tetralogy of Fallot (n = 13), pulmonary atresia (n = 3), double outlet right ventricle with pulmonary stenosis (PS) (n = 3), transposition of the great arteries, ventricular septal defect and PS (n = 2) and truncus arteriosus (n = 1). In 15 of these patients, distal and proximal anastomoses were performed on the beating heart., Results: There was no mortality and no valved-conduit-related early morbidity. Intraoperative invasive assessment demonstrated excellent hemodynamic characteristics: mean peak pressure increase was 8.5+/-6.3 mmHg (varying between 4 mmHg in the 20-mm conduit and 18 mmHg in the 14-mm conduit). These values were confirmed by pre-discharge transthoracic pulsed-wave Doppler echocardiography. Because of endocarditis, one conduit was explanted after 11 months and replaced with a pulmonary homograft. Two patients required reintervention., Conclusion: The Contegra valved conduit is an excellent immediate substitute in the treatment of RVOT lesion when a pulmonary valve has to be inserted. Both systolic and diastolic valve functions are promising. Further data are required to confirm the favorable hemodynamics, as well as the durability and efficacy of this conduit in the long term.

Several investigations have been performed to evaluate the mid-term results of coil embolization for patent ductus arteriosus. Excellent results were obtained with coils if the minimum diameter of the ductus was less than 4 mm. Balloon dilation of native coarctation and recoarctation may be associated with complications such as aneurysm formation. Stent placement may solve some of the problems of balloon dilation, but the stents currently available are not perfect. Results of transcatheter closure of atrial septal defect using new devices have been were reported. The self-expanding nitinol double-disk device (Amplatzer septal occluder) (AGA Medical Corporation, Golden Valley, Minnesota) is becoming popular because it is easy to implant, is easy to retrieve before its release, can occlude a relatively large defect, and has a low rate of residual leak. Although the immediate results with this device were excellent, surgical closure is still the standard treatment and we need to see the long-term results of transcatheter closure.

The embryonic heart functions as a pump without one-way valves. To accomplish this, a long, slowly conducting myocardial structure, the outflow tract, functions as a sphincter at the arterial pole of the heart. During subsequent development tissue remodeling in the outflow tract and immigrating cells of the neural crest are responsible for connecting the right ventricle with the pulmonary trunk and the left ventricle with the aorta, that is, for the developmental formation of the ventriculoarterial junction. Most congenital malformations of the ventriculoarterial junction stem from disturbances that result in developmental arrest or in abnormal pattern formation ("real" teratology). Abnormal pattern formation can in turn originate from problems with laterality or from aberrant or incomplete formation of structural elements. Genetically modified animals with well-defined gene deficiencies are beginning to provide insight in the signal-transduction pathways and structural elements that are responsible for normal development.

Gap junctions are made up of connexin proteins, which comprise a multigene family in mammals. Targeted mutagenesis of connexin43 (Cx43), one of the most prevalent connexin proteins, showed that its absence was compatible with survival of mouse embryos to term, even though mutant cell lines showed reduced dye coupling in vitro. However, mutant embryos died at birth, as a result of a failure in pulmonary gas exchange caused by a swelling and blockage of the right ventricular outflow tract from the heart. This finding suggests that Cx43 plays an essential role in heart development but that there is functional compensation among connexins in other parts of the developing fetus.

A family is described in which three males have been affected by congenital valvular dysplasia of one or more heart valves, in one case leading to neonatal death. The pedigree is consistent with sex linked inheritance.

Obstruction within the outflow tract from the left ventricle can take several anatomic forms. To understand better these substrates, we reviewed the anatomy in the normal heart and, with this background, focused on the malformations observed at each level of the outflow tract which produce stenosis. We examined 75 malformed hearts and reviewed the literature pertinent to surgical aspects of obstruction. Close study of the normal aortic valve shows the lack of any discrete fibrous structure which can be described in terms of a ring-like annulus. The semilunar attachment of the leaflets makes a crown-shaped arrangement at the ventriculo-arterial junction rather than a strict ring. In the pathological study, valvar abnormalities were found in 45 cases. The valve had three leaflets in 20 cases, two leaflets in 24 cases and one leaflet in to the other. In two cases, additional obstruction was found at the sinutubular junction. Subvalvar stenosis was found in 30 hearts, the aortic valve being trifoliate in 28 and bifoliate in 2. The main substrate of subvalvar obstruction was posterior malalignament of the outlet septum (40%), followed by muscular septal hypertrophy (23%); obstruction was also an intrinsic feature in association with atrioventricular septal defects (14%). Although rare in our material, it can also be due to a fibrous or fibromuscular shelf. In our review of the literature, we have highlighted the various forms of valvar malformation and commented on the surgical options. Clear analysis of both the level of obstruction, and its precise anatomic substrate are essential for optimal surgical intervention.

Congenital obstruction of the left ventricular outflow tract remains a significant problem. Obstruction may involve the subvalvar, valvar or supravalvar portion of the aortic valve complex. Congenital valvar stenosis presenting in the neonatal period represents a spectrum of disorders ranging from the hypoplastic left heart syndrome to almost normal hearts. Preoperative echocardiography may allow the selection of infants who are suitable for biventricular repair, with the therapeutic options including open valvotomy and balloon valvotomy, but the determination of the optimal method of treatment will require long term follow up data. Subvalvar obstruction may be discrete or diffuse, and the extent will determine the appropriate therapy. Discrete membranes may be managed by a simple excision while diffuse involvement of the subvalvar region may require a more extensive reconstructive procedure such as the Konno procedure. Supravalvar aortic stenosis is the least common form of aortic stenosis and may be associated with abnormalities of the pulmonary arteries. Treatment is often palliative rather than corrective with all types of congenital left ventricular outflow tract obstruction, and many patients will require reoperations, especially those with valvar and subvalvar obstruction. The lack of long term follow up data for patients treated in the neonatal period makes the choice of an optimal therapy difficult. New methods of valve replacement such as the pulmonary autograft may improve long term results.

Two-dimensional and Doppler echocardiographic findings in 20 patients with double chambered right ventricle are described. All patients had the diagnosis established by cardiac catheterisation and confirmed at operation. Echocardiographic evaluation was done prior to surgical correction. Anomalous muscle bands in right ventricular cavity were detected in 16 patients. Doppler flow velocities in the right ventricular cavity suggested infundibular obstruction to blood flow at a low level in all 17 patients studied by Doppler echocardiography. Ventricular septal defects (11 patients), pulmonary stenosis (3 patients), and aortic regurgitation (3 patients) were detected accurately before operation by echocardiographic examination. Failure to detect the anomalous muscles in right ventricular cavity may occur in adult patients with poor anterior resolution and in those with severe right ventricular outflow obstruction and myocardial hypertrophy. Two dimensional echocardiography with Doppler flow analysis is useful in the evaluation and differential diagnosis of right ventricular outflow obstructions prior to invasive studies and surgical intervention.