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.

Isolated left-sided scimitar vein connecting all left pulmonary veins to the right inferior vena cava.

When the common pulmonary vein fails to develop, the embryonic connections of the pulmonary veins to one or more of the systemic veins almost always persist. Anomalous pulmonary venous connections to the inferior vena cava (IVC) are typically characterized by hypoplasia of the involved pulmonary veins and pulmonary artery, as well as abnormal parenchyma of the involved lung. Such cases have been described as "scimitar syndrome." We report the case of a young female patient in whom all the left pulmonary veins converged into a common vessel that drained into the IVC but who had a normal left pulmonary artery and left lung. Surgical intervention was successful, and our patient is still alive.

Superoinferior ventricles with superior left ventricle and inferior right ventricle: a newly recognized form of congenital heart disease.

We report the first known case of supero-inferior ventricles with a superior morphologically left ventricle and an inferior morphologically right ventricle. This 2 1/2-year-old boy also had dextrocardia, double-outlet right ventricle [S,L,L], right-sided mitral atresia, left-sided tricuspid regurgitation, a large conoventricular type of ventricular septal defect, and pulmonary outflow tract stenosis. This very rare form of superoinferior ventricles appears to be due to excessive levorotation (approximately equal to 170 degrees) of discordant L-loop ventricles.

Biatrial or left atrial drainage of the right superior vena cava: anatomic, morphogenetic, and surgical considerations--report of three new cases and literature review.

Since the posterior wall of the right superior vena cava (RSVC) is contiguous with the anterior wall of the right upper pulmonary veins, a localized defect in this common wall may create a cavopulmonary venous confluence without eliminating the normal connection of the same right pulmonary veins with the left atrium (LA). Through this defect, blood of the unroofed right pulmonary veins will drain into the RSVC and right atrium (RA), and blood from the RSVC may shunt into the right pulmonary veins and LA. Hemodynamically, the RSVC will become biatrial. If the RSVC blood flows preferentially into the LA, its right atrial orifice will become stenotic or even atretic. If atretic, the normally positioned RSVC will drain entirely into the LA. In this report, we present the clinical and anatomical findings of two postmortem cases with biatrial drainage of the RSVC. We also document the clinical, echocardiographic, angiocardiographic, and surgical data of a living patient with left atrial drainage of the RSVC and tetralogy of Fallot with pulmonary atresia. The relevant literature and surgical treatment are reviewed, and the morphogenesis of the biatrial and left atrial RSVC is considered.

Single origin of right and left pulmonary artery branches from ascending aorta with nonbranching main pulmonary artery: relevance to a new understanding of truncus arteriosus.

We report the third known case of origin of the right and left pulmonary artery branches from the ascending aorta via a short common pulmonary artery. A large unbranching main pulmonary artery opened through a patent ductus arteriosus into the descending thoracic aorta. Preductal coarctation of the aorta and multiple congenital anomalies were also present. This rare cardiovascular malformation facilitates a new anatomic and developmental understanding of truncus arteriosus.

Healing response to the Clamshell device for closure of intracardiac defects in humans.

The healing response to intracardiac devices in humans is largely unknown. During regulatory trials using the Clamshell device in over 800 patients, attempts were made to perform histopathological evaluation of all explanted devices. We reviewed all those with complete histopathological examination (n = 12) from Fontan baffles (n = 4), ventricular septal defects (n = 2), and atrial septal defects (ASD; n = 6), explanted at 2.7 months to 3.6 years (median, 1.6 years), at autopsy (n = 1) or surgery (n = 11), performed for residual defects (n = 5), atrial masses (n = 3), or Fontan revision (n = 3). All but one were nearly (n = 3) or completely (n = 8) covered by pseudointima, composed of fibroelastic tissue, predominantly collagen, with focal foreign body reaction in contact with fabric, without acute inflammation or infection. Atrial masses of granulation tissue were present in three cases (ASD), opposite to protruding fractured arms. No associations were identified between coverage and closure status, position, arm fractures, or implant period. In conclusion, the healing response to transcatheter Clamshell implantation in humans is characterized by a relatively rapid development of a nonthrombotic pseudointima composed of fibroelastic tissue with minimal foreign body reaction. Cathet Cardiovasc Intervent 2001;54:101-111.

Three-dimensional echocardiography of the atrial septum.

This article details the important contribution of three-dimensional echocardiography for catheterization device closure of secundum atrial septal defects. Aspects presented include three-dimensional echocardiographic application in preselection of patients and in selection of the type and size of the atrial septal occluder devices. Unique three-dimensional echocardiographic imaging planes are shown that depict the size and shape of the defect, the important rim tissue surrounding the defect, and the images that demonstrate successful device placement. Details of the acquisition phase, digital reformatting, and the eventual rendering of standard three-dimensional echocardiographic imaging planes of the atrial septum are shown. Three-dimensional echocardiography not only provides important additional information, but also enhances understanding of standard two-dimensional studies.

Congenital left ventricular aneurysm: clinical, imaging, pathologic, and surgical findings in seven new cases.

BACKGROUND: Congenital left ventricular aneurysm is a poorly understood and potentially lethal entity. Methods and Results In a clinicopathologic study of 7 new cases, the major presenting features in 6 patients were congestive heart failure in 4, ventricular arrhythmias in a 32-week fetus, and multiple congenital anomalies in a fetus with trisomy 13. Accurate diagnosis was achieved in all 3 living patients by echocardiography, angiocardiography, and magnetic resonance imaging. The aneurysm was predominantly apical in 3 and involved most of the left ventricular free wall in 4. Of the 3 living patients, medical management alone sufficed in 2. The third, a newborn boy, underwent a new and successful aneurysm-exclusion left ventriculoplasty. The mitral valve was abnormal in all 4 autopsied cases, the papillary muscles being short, thin, or absent. The aneurysm was thinner and its area was larger than that of the nonaneurysmal left ventricle in all necropsied patients. CONCLUSIONS: Congenital left ventricular aneurysm appears to be a developmental anomaly, an idiopathic dysplasia of left ventricular endocardium and myocardium. No evidence of a viral etiology was found. Some neonates can be managed medically, but others require urgent surgical intervention. A new surgical operation is presented, a functional left ventricular aneurysmectomy that minimizes intraoperative and postoperative blood loss and that preserves the coronary arteries.

Absent pulmonary valve with tricuspid atresia or severe tricuspid stenosis: report of three cases and review of the literature.

Absence of the pulmonary valve occurs usually in association with tetralogy of Fallot and occasionally with an atrial septal defect or as an isolated lesion. Very rarely it occurs with tricuspid atresia, intact ventricular septum, and dysplasia of the right ventricular free wall and of the ventricular septum. We present the clinical, anatomic, and histologic findings of a new case, and for the first time, the data from two patients with absent pulmonary valve and severe tricuspid stenosis, who exhibited similar histologic findings. We also reviewed the clinical and anatomic data of 24 previously published cases and compared them with the new cases. In all three new cases, the myocardium of the right ventricle was very abnormal. In the two cases with tricuspid stenosis, large segments of myocardium were replaced with sinusoids and fibrous tissue. In the case with tricuspid atresia, the right ventricular free wall contained only fibroelastic tissue. The ventricular septum in all three patients showed asymmetric hypertrophy and in two of the three patients, multiple sinusoids had replaced large segments of myocardial cells. The left ventricular free wall myocardium and the walls of the great arteries were unremarkable. Our data indicate that myocardial depletion involving the right ventricular free wall and the ventricular septum and its replacement by sinusoids and fibroelastic tissue occur not only in cases of absent pulmonary valve with tricuspid atresia but also in cases of absent pulmonary valve with tricuspid stenosis. The degree of myocardial depletion varies and is more severe when the tricuspid valve is atretic.

Surgical closure of apical ventricular septal defects through a right ventricular apical infundibulotomy.

BACKGROUND: We present a new understanding of the anatomic position of apical ventricular septal defects and its surgical relevance. These defects occur between the left ventricular apex and the infundibular apex, rather than between the left and right ventricular apices. Often a sizable apical recess, the infundibular apex lies anteriorly and inferiorly to the moderator band and is the most leftward part of the right ventricle. METHODS: Four patients (2 boys and 2 girls) with a mean age of 109 days (range, 48 to 217 days) underwent patch closure through an apical infundibulotomy, which allowed complete visualization of the muscular apical ventricular septal defect. RESULTS: There were no early or late deaths at operation. No significant residual shunt at ventricular level was detected by postoperative two-dimensional and Doppler echocardiography. Intraoperative comparison of right atrial and pulmonary arterial blood samples showed a difference of less than 5%. At a mean follow-up of 18 months, all the patients are asymptomatic and growing well. CONCLUSIONS: The successful outcome of these 4 patients indicates that surgical closure of apical ventricular septal defects can be achieved safely and completely in early infancy through a limited right ventricular apical infundibulotomy. Long-term follow-up of these and similar patients is needed to provide further evaluation of this approach.

Acute animal studies of the STARFlex system: a new self-centering cardioSEAL septal occluder.

The STARFlex system is a modified CardioSEAL device with a flexible self-centering mechanism comprised of nitinol springs strung between opposing arms, a connecting ball (sleeve joint that allows the device to pivot prerelease), and a front-loading delivery system. It was designed to allow a smaller device/defect sizing ratio and delivery profile, provide centering capability, and improve closure rates. To test this system, 13 devices (23, 28, and 33 mm) were deployed in six sheep within created atrial septal defects (12- to 22-mm diameter; n = 10), in the left atrium (n = 2), and in inferior vena cava (n = 1). All implantations in atrial septal defects were successful, with device/defect ratio ranging from 1.3 to 1.9 (median, 1.3), with no residual leak by angiography or echocardiography in seven (3/10 had

Extracardiac anomalies in the heterotaxy syndromes with focus on anomalies of midline-associated structures.

The extracardiac defects in patients with heterotaxy have not been examined as extensively as cardiac defects. We found a high incidence of midline-associated defects in 160 autopsied cases of heterotaxy (asplenia, polysplenia, or single right-sided spleen). Fifty-two percent of patients with left-sided polysplenia had a midline-associated defect, as did 45% of those with asplenia. Most common were musculoskeletal or genitourinary anomalies, as well as cleft palate. Fused adrenal glands and anal stenosis or atresia occurred exclusively among patients with asplenia. A midline anomaly was twice as likely to be detected on complete autopsy than from clinical findings alone. Linkage studies should take into account that affected subjects may have isolated subclinical midline defects. The high incidence of midline-associated defects supports the theory that the midline plays a critical role in establishing left-right asymmetry in the body. Comparison of these defects with mouse models of laterality defects suggests that mutations that disrupt the transforming growth factor beta pathway may result in heterotaxy.

Straddling tricuspid valve as a sign of ventriculoatrial malalignment: A morphometric study of 19 postmortem cases.

BACKGROUND: Straddling tricuspid valve, despite extensive investigation, remains an incompletely understood form of complex congenital heart disease. METHODS: A morphometric study of 19 postmortem cases of straddling tricuspid valve was performed, and the results were compared with 32 normal control heart specimens. RESULTS: In straddling tricuspid valve, marked malalignment of the ventricles was always found relative to the atria. The angle between the ventricular septum and the atrial septum in the short-axis projection averaged 61 degrees +/- 24 degrees, the normal ventriculoatrial septal angle averaging 5 degrees +/- 2 degrees (P <. 001). The right ventricular sinus (inflow tract) was significantly smaller than the left (P <.01). A ventricular septal defect was present in 79%: atrioventricular canal type in 42%, atrioventricular canal type confluent with a conoventricular defect in 26%, and a conoventricular defect in 11%. When the straddling tricuspid valve adhered to the crest of the muscular ventricular septum (n = 4 cases, 21%), the 2 salient findings were (1) an intact ventricular septum and (2) double-outlet right atrium. The nonstraddling part of the tricuspid valve opened into the small right ventricle. The straddling part of the tricuspid valve opened into the larger left ventricle. The mitral valve also opened into the left ventricle. Hence hearts with double-outlet right atrium had 3 atrioventricular valves. Congenital mitral stenosis was present in 26% of this series. CONCLUSION: Straddling tricuspid valve was always characterized by marked ventriculoatrial malalignment, indicated by an abnormally large ventriculoatrial septal angle, best seen in the short-axis projection.

The modified Fontan procedure: morphometry and surgical implications.

BACKGROUND: The modified Fontan procedure for patients with only one well-formed ventricle is now widely regarded as palliative, not curative. METHODS: To improve the surgical management and postoperative follow-up of such patients, a morphometric study of 33 postmortem cases was done. RESULTS: The three main causes of death were congestive heart failure (82%), arrhythmias (12%), and central nervous system dysfunction (6%). The cross-sectional area of the Fontan anastomosis (FA) relative to the systemic venous area (SVA) and relative to the body surface area (BSA) revealed that the Fontan pathway was often obstructive. The mean FA/SVA index was 73% less than normal: 0.54 +/- 0.22, range 0.13 to 0.98. The mean FA/BSA index was 70% less than normal: 143.52 +/- 50.01 mm2/M2, range 55.09 to 261.67 mm2/M2. CONCLUSIONS: The main surgical challenge is to minimize or eliminate prepulmonary stenosis. Although significant postoperative obstruction was often not evident hemodynamically because of small or absent gradients, the presence of important obstruction of the Fontan pathway was clearly revealed by morphometry.

Truncus arteriosus with anomalous pulmonary venous connection.

The anatomic, diagnostic, and management findings of 6 patients with truncus arteriosus and anomalous pulmonary venous connections are described. Additional risk factors indicative of poor prognosis were found in 3 of 4 patients with truncus arteriosus and totally anomalous pulmonary venous connection and in 1 patient with partially anomalous pulmonary venous connection.

Mitral and aortic atresia associated with hypoplastic right lung, crossover segment of right lower lobe, and anomalous scimitar-like right pulmonary venous connection with inferior vena cava: clinical, angiocardiographic, and autopsy findings in a rare case.

A newborn female infant was found to have a unique and previously unreported group of anomalies: (1) mitral and aortic atresia with a highly obstructive atrial septum; (2) hypoplasia of the right lung with a crossover segment involving the right lower lobe; (3) normally connected pulmonary veins, two from the left lung and one from the right; and (4) a large anomalous branch of the right pulmonary vein of scimitar configuration that anastomosed with the normally connected right pulmonary vein and with the inferior vena cava (IVC). The scimitar vein appeared obstructed at its junction with the right pulmonary vein and at its junction with the inferior vena cava within the hepatic parenchyma. To our knowledge, this is the first report of a scimitar-like vein coexisting with mitral and aortic atresia and connecting both with the right pulmonary vein and with the inferior vena cava. The highly obstructed left atrium was partially decompressed by retrograde blood flow via the normally connected right pulmonary vein to the anomalous scimitar venous pathway and thence to the inferior vena cava via a pulmonary-to-IVC collateral vein.

The large window ductus: a surgical trap.

A rare window type of patent ductus arteriosus is reported that was large (15 mm in maximal transverse dimension) but had virtually no length and hence was externally invisible. The smaller aortic isthmus (4 mm in diameter), which was intrapericardial, was mistaken for the ductus and was inadvertently clip-occluded, leading to death. After a specific diagnosis is made, the large window ductus should be patched on cardiopulmonary bypass with a transpulmonary approach.

Pathologic anatomy of corrected transposition of the great arteries: medical and surgical implications.

BACKGROUND: Because the double-switch operation (atrial switch plus arterial switch) has recently become feasible in selected patients with congenitally physiologically corrected transposition of the great arteries, a detailed understanding of the pathologic anatomy is now mandatory for cardiologists, radiologists, and surgeons. METHODS: A detailed study of the pathologic anatomy, the clinical implications, and the surgical implications was undertaken on 33 postmortem cases with two ventricles. A companion study was also performed of 44 postmortem cases with functionally only one ventricle. Hence this was an investigation of 77 postmortem cases. RESULTS: Three main anatomic types of corrected transposition of the great arteries (TGA) with two ventricles were found: (1) TGA with solitus atria (S), L-loop ventricles (L), and L-TGA (L), that is, TGA [S,L,L] in 31 cases (94%); (2) TGA with solitus atria (S), L-loop ventricles (L), and D-TGA (D), that is, TGA [S,L,D] in 1 case (3%); and (3) TGA with inverted atria (I), D-loop ventricles (D), and D-TGA (D), that is, TGA [I,D,D] in 1 case (3%). Associated malformations resulted in 13 anatomic subtypes. In classical corrected TGA [S,L,L] with two ventricles, anomalies of the left-sided systemic tricuspid valve were present in 97%, with malformations of the left-sided systemic right ventricle in 91%. CONCLUSIONS: The findings in corrected TGA with two ventricles and in cases with single ventricle support the view that anatomic repair such as the double-switch procedure, or left-sided right ventricle bypass such as the modified Norwood procedure followed by the modified Fontan procedure, is indicated in selected patients.

Interrupted inferior vena cava in asplenia syndrome and a review of the hereditary patterns of visceral situs abnormalities.

We present the clinical and postmortem findings of the first photographically documented case of asplenia and interrupted inferior vena cava and the anatomic findings of 5 previously reported cases. A brief review of the various hereditary patterns of visceral situs abnormalities suggests that, at least in some cases, the asplenia and polysplenia syndromes are etiologically and pathogenetically interrelated.