Prenatal findings in total anomalous pulmonary venous return: a diagnostic road map starts with obstetric screening views.

OBJECTIVES: Optimal perinatal management of total anomalous pulmonary venous return (TAPVR) involves timely identification followed by surgical correction. Antenatal diagnosis, however, has long been a challenge. We aimed to identify consistent prenatal sonographic features in this condition in a large cohort in whom the diagnosis was made antenatally and confirmed postnatally. METHODS: We conducted a systematic retrospective review of the 2-dimensional and Doppler sonographic features that had helped make the diagnosis of TAPVR at our institution from 2001 to 2012. RESULTS: Twenty-six patients had prenatal diagnosis of TAPVR (mean gestational age, 24.1 weeks). Four of the fetuses with a prenatal diagnosis represented isolated cases of TAPVR; 22 had heterotaxy syndrome, additional cardiac abnormalities, or both. Prenatally diagnosed abnormal pulmonary venous connections were supracardiac (type I) in 18 cases, cardiac (type II) in 1, and infradiaphragmatic (type III) in 7. Lack of a visible connection of the pulmonary veins to the atrium (100%) and the presence of a visible venous confluence on axial 4-chamber views (96%) were the most consistent findings. Cardiac asymmetry and the presence of additional vertical venous channels on 3-vessel or axial abdominal views were also noted but less consistently. Abnormal pulmonary venous spectral Doppler findings were present in 25 of the 26 fetuses. CONCLUSIONS: The diagnosis of TAPVR can be suspected on standard axial views included in second-trimester obstetric screening examinations of the fetal heart and confirmed on fetal echocardiography with the use of pulsed wave Doppler imaging. Clues recognizable on obstetric sonographic screening have the potential to contribute to increasing the diagnostic yield for prenatal detection of TAPVR.

Prenatal tricuspid valve size as a predictor of postnatal outcome in patients with severe pulmonary stenosis or pulmonary atresia with intact ventricular septum.

INTRODUCTION: Tricuspid valve (TV) size at birth correlates with intervention strategy in patients with severe pulmonary stenosis (SPS) or pulmonary atresia/intact ventricular septum (PA/IVS). Prenatal features that might predict postnatal TV size have not been well studied. We hypothesized that prenatal echocardiographic measurements predict the postnatal TV Z-score in fetuses with SPS and PA/IVS. MATERIALS AND METHODS: We identified 16 neonates (gestational age 28 ± 4.8 weeks) with a fetal diagnosis of SPS or PA/IVS from 2001 to 2010. Measurements were performed offline. ROC (receiver operating characteristic) analysis was used to generate AUC (areas under the curve) for each of the variables. RESULTS: AUC was 0.94 for tricuspid to mitral valve (TV/MV) ratio, 0.88 for TV Z-score, and 0.85 for TV inflow duration. A cut-off value of >0.63 for TV/MV yielded a sensitivity of 78%, specificity of 100% for predicting postnatal TV Z-score >-3. Neonates with TV Z-score ≥-3 and all fetuses with antegrade flow across the pulmonary valve or more than moderate tricuspid regurgitation had biventricular circulation in follow-up. CONCLUSION: Fetal TV/MV >0.63 predicts favorable TV Z-score at birth in patients with SPS and PA/IVS. Antegrade pulmonary valve flow and more than moderate tricuspid regurgitation also conferred a favorable outcome.

Left heart structures in human neonates with congenital diaphragmatic hernia and the effect of fetal endoscopic tracheal occlusion.

BACKGROUND: Small left heart structures are observed in fetuses with left-sided congenital diaphragmatic hernia (CDH). Fetoscopic tracheal occlusion (FETO) in mid-gestation promotes lung growth in fetuses with CDH, however cardiac effects of FETO are poorly described. We studied the effects of FETO on cardiac structure size at birth, hypothesizing that left heart structures would be larger in neonates who had undergone fetal intervention. METHODS/RESULTS: We performed retrospective measurements of atrioventricular and semilunar valve and pulmonary artery diameters, ventricular lengths, left ventricular end-diastolic volume indexed (LVEDVi) to body surface area. 35 patients were studied (9 FETO, 26 controls). All fetuses had liver herniation and a lung-to-head ratio <1 at fetal presentation. At birth the intervention group had larger LVEDVi (16.8 vs. 12.76 ml/m(2), p < 0.05), LV length Z-score (-2.05 vs. -4, p < 0.01), LV:RV length ratio (1.43 vs. 1.04, p < 0.05), LPA diameter Z-score (+1.71 vs. -1.04, p < 0.05), and better growth of aortic valve (-2.18 FETO, -3.3 controls, p < 0.01). There was a trend toward higher LV output in the FETO group. CONCLUSIONS: Left heart structures and LPA were larger postnatally in patients with CDH who underwent FETO than in those who did not. Hemodynamic alterations are introduced with tracheal occlusion that are associated with alterations in ventricular loading and may influence growth.

Prenatal diagnosis of atrial restriction in hypoplastic left heart syndrome is associated with decreased 2-year survival.

OBJECTIVE: To compare the course of hypoplastic left heart syndrome (HLHS) patients diagnosed prenatally with any degree of atrial restriction with those without evidence of atrial restriction. DESIGN: Retrospective, cohort. METHODS: Prenatally diagnosed HLHS patients from August 1999 to January 2009 were categorized as nonrestrictive versus restrictive, defined by left atrial hypertension on pulmonary venous Doppler and/or an intact interatrial septum. RESULTS: Of 73 total fetal patients identified, 49 were live-born. Survival at 2 years was 29/35 [83% confidence interval (CI): 59.5%-88.9%] for the nonrestrictive group and 6/14 (43% CI: 17.7%-6.0%) for the restrictive group (p<0.0001). Of those who underwent stage 1 palliation (35 with nonrestrictive and 10 with restrictive atrial septa), both groups had a similar incidence of preoperative acidosis and need for ventilation and inotropic support. Postoperatively, there was no difference between groups in ventilator days, length of stay, or survival to discharge. There was decreased survival at 2 years in the restrictive group, 60% (CI: 26.2%-87.8%) versus 83% (CI: 66.4%-93.4%) in the nonrestrictive group. Furthermore, a disproportionate number of interstage deaths was evident in the restrictive group. CONCLUSIONS: Prenatal presence of any degree of atrial septal restriction in the setting of HLHS confers a significant survival disadvantage, with increases in both early and late mortality.

Echocardiographic risk stratification of fetuses with sacrococcygeal teratoma and twin-reversed arterial perfusion.

OBJECTIVE: To evaluate pre-intervention echocardiographic parameters of cardiac function in fetuses who survive without hydrops as compared to fetuses who develop hydrops or perinatal death in the setting of sacrococcygeal teratoma (SCT) and twin-reversed arterial perfusion sequence (TRAP). METHODS: Clinical, echocardiographic and sonographic data of fetuses with SCT or TRAP during 1999-2009 were reviewed retrospectively. Measurements of cardiothoracic ratio (CTR), cardiac dimension Z-scores, combined ventricular output (CVO), valvular regurgitation, and cardiovascular profile scores (CVPS) were obtained. RESULTS: In total, 19 fetuses (11 SCT, 8 TRAP) met the inclusion criteria and 26 detailed fetal echocardiographic studies were reviewed. Outcome was poor in 7 pregnancies (group A) and good in 12 (group B). Group A had worse CVPS (8.5 vs. 10, p < 0.01) and higher CTR (0.37 vs. 0.30, p = 0.04). At least one of the following was present in each group A fetus: CTR >0.5, CVO >550 ml/min/kg, tricuspid or mitral regurgitation, or mitral valve Z-score >2. No group B fetus had any of these abnormalities. No fetus in either group had abnormal venous Doppler waveforms at presentation. CONCLUSIONS: Fetal echocardiography can identify abnormalities of cardiac size and systolic, but not diastolic, function in all fetuses who subsequently died or developed hydrops.

Reliability of two-dimensional echocardiography in the assessment of clinically significant abnormal hemidiaphragm motion in pediatric cardiothoracic patients: Comparison with fluoroscopy.

OBJECTIVE: To assess the utility and reliability of echocardiographic assessment of hemidiaphragm motion abnormalities in pediatric cardiothoracic patients. DESIGN: Retrospective observational study, with post hoc blinded assessment of echocardiographic and fluoroscopic results. SETTING: Tertiary care center. PATIENTS: Thirty-six consecutive pediatric cardiothoracic patients with suspected hemidiaphragm paralysis were identified and included in the study. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: The results of both echocardiographic and fluoroscopic studies on all patients were included. In addition, blinded review of study results were performed. The sensitivity and specificity of fluoroscopy in identifying hemidiaphragms that needed plication were 100% and 74%, respectively. The positive predictive value was 55%; negative predictive value was 100%. Comparing reported diagnoses with blinded review of the studies showed poor agreement; reviewers agreed with 89% diagnosed as normal, 44% of paralyzed, and 76% of paradoxical hemidiaphragms. The sensitivity and specificity of echo in identifying hemidiaphragms that needed plication were 100% and 81%, respectively. The positive predictive value and negative predictive value were 66% and 100%. Comparing reported diagnoses with blinded review, reviewers agreed with 97% diagnosed as normal, 81% of paralyzed, and 100% of paradoxical hemidiaphragms. Echocardiography was less accurate in discriminating between paralyzed and paradoxical diaphragm motion. Echocardiography was specific for paradoxical motion, since both patients identified by echocardiography were confirmed by fluoroscopy, but it was not sensitive. In nine patients, echo showed paralyzed motion that was identified by fluoroscopy as paradoxical. CONCLUSIONS: This study supports the use of echocardiography in the assessment of diaphragm function. When the diaphragms are clearly visualized by echo, as they are in the majority of cases, the addition of an additional fluoroscopic study adds no clinical value. The differentiation between paralyzed and paradoxical motion is unreliable by both imaging modalities.

Right Ventricular Systolic-to-Diastolic Time Index: Hypoplastic Left Heart Fetuses Differ Significantly from Normal Fetuses.

BACKGROUND: A growing body of evidence indicates that right ventricular dysfunction in patients with palliated hypoplastic left heart syndrome (HLHS) originates in fetal life. In this study, the systolic-to-diastolic time index (SDI) was used to study the presence of ventricular dysfunction in single right ventricles in fetuses with HLHS or evolving HLHS and to assess whether this dysfunction is related to increase preload, myocardial performance, or interventricular interaction. METHODS: Echocardiograms from 78 fetuses with HLHS and 10 with evolving HLHS were retrospectively compared with those of 78 normal control fetuses. Fetuses with HLHS were further grouped according to morphology of the left ventricle (LV): not visible (n = 35) or visible (n = 43). Spectral Doppler signals obtained from right ventricular inflow (blood pool) and tissue Doppler from the tricuspid lateral annulus were analyzed. The SDI was calculated as the ratio of the ejection time plus isovolumic contraction and relaxation times to the diastolic filling time. E/A and E/e' ratios, cardiac output, preload index, and Tei index were also calculated. RESULTS: Fetuses with HLHS demonstrated significantly elevated right ventricular SDI values by both blood pool Doppler and Doppler tissue imaging compared with control subjects (1.89 ± 0.33 vs 1.58 ± 0.29 [P < .001] and 2.1 ± 0.57 vs 1.66 ± 0.31 [P < .001], respectively). Changes in filling time rather than ejection time predominated. Fetuses with HLHS with visible LVs and those with evolving HLHS had significantly higher SDI values than fetuses with HLHS without visible LVs (no visible LV, 1.75 ± 0.22; visible LV, 2 ± 0.36; P = .001; evolving HLHS, 2.19 ± 0.68; P < .001). SDI was correlated with the Tei index (R = 0.58) and was more sensitive than the Tei index in identifying differences between the HLHS subgroups. CONCLUSIONS: Fetuses with evolving and overt HLHS exhibit abnormally increased SDI values in utero. This difference is likely related to inherently pathologic interventricular interactions and/or diastolic dysfunction of the right ventricle in fetuses with HLHS.

Value of clinical and echocardiographic features in predicting outcome in the fetus, infant, and child with tetralogy of Fallot with absent pulmonary valve complex.

We describe clinical and echocardiographic features of tetralogy of Fallot with absent pulmonary valve complex (TOF/APVC) and hypothesized that outcome might be related to pulmonary artery enlargement or severity of illness. We examined the clinical records of all 23 patients evaluated at our institution before death or surgical correction of TOF/APVC between 1990 and 2000. Echocardiograms for 16 patients (including 5 fetuses) were also reviewed, and measurements of the semilunar valves and pulmonary arteries were obtained and compared with patient's aortic annulus size and with established normal subjects. Actuarial survival was 15 of 23 patients (68%) at 4 years. Four fetuses were hydropic and none survived; 7 patients were ventilator dependent at operation and only 3 survived. No difference was noted in pulmonary artery diameters in survivors versus nonsurvivors. Pulmonary valve annulus size was larger in nonsurvivors (103 +/- 25% vs 71 +/- 24% of normal, p = 0.03); however, when fetal examinations were excluded, this difference did not persist. Thus, only hydrops and ventilator dependence at diagnosis predicted mortality. There was no correlation between postnatal measurements of pulmonary arteries and outcome. Larger pulmonary annulus size in hydropic fetuses and poor survival among patients diagnosed in utero suggests that the pathophysiology in TOF/APVC is not due entirely to the aneurysmal dilation of the pulmonary arteries but may be related to right-sided cardiac dysfunction.

Comparison of contrast echocardiography versus cardiac catheterization for detection of pulmonary arteriovenous malformations.

Because clinical diagnosis of pulmonary arteriovenous malformations (AVMs) is difficult and cardiac catheterization invasive, contrast echo has been used to aid in the diagnosis. Correlation between contrast echo and catheterization data in these patients remains poorly defined. We examined the ability to detect pulmonary AVMs by contrast echocardiography, pulmonary angiography, and pulmonary vein saturations in patients who have undergone cavopulmonary (Glenn) shunts. Pulmonary vein saturations were obtained from catheterization reports. Blinded observers reviewed angiographic and contrast echo data retrospectively in 27 patients who had undergone a Glenn shunt and in 19 controls with biventricular hearts. Contrast echo was positive in 68 of 99 lungs (69%). Angiography showed AVMs in 65 of 98 lungs (66%). Pulmonary vein desaturation was found in 13 of 45 lungs sampled (29%). Only 10 of 38 lungs with positive contrast echo had pulmonary vein desaturation, but only 1 patient had pulmonary vein desaturation without positive contrast echo. The degree of desaturation did not correlate with severity of contrast echo return; 6 of 11 patients with 3+ contrast echo studies had normal pulmonary vein saturations. In a control group of patients with biventricular hearts, only 1 of 19 (5.3%) contrast echos was weakly positive. Contrast echo correlates poorly with angiography and pulmonary vein saturation for evaluation of AVMs. Contrast echo is extremely sensitive and often positive despite normal pulmonary vein saturation. Assessment of pulmonary vein desaturation in 100% oxygen may improve its sensitivity and correlation with contrast echo. Additional studies are needed to follow patients with mildly positive contrast echo studies to enable determination of their clinical relevance.

Intermediate term follow-up of the end-to-side aortic anastomosis for coarctation of the aorta.

BACKGROUND: Classic techniques for repairing coarctation of the aorta, especially in neonates, have a significant incidence of recurrent obstruction. By connecting the descending aorta to the proximal aortic arch, the end-to-side aortic anastomosis isolates hypoplastic distal arch and encroaching ductal tissue from the anastomotic site. METHODS: Follow-up data were available for 88 patients (54 male) who underwent an end-to-side aortic anastomosis from November 1992 until November 1999. The median postoperative follow-up was 1.9 years (range, 0.1 to 6.3 years). Fifty-four patients were corrected as neonates. Thirty-four patients were operated on out of the neonatal period (> 1 month of age). A systolic blood pressure gradient > or = 20 mm Hg and a Doppler flow velocity > or = 2.5 ms across the area of repair were considered a recurrent obstruction. RESULTS: No patients in the pediatric group had a recurrent obstruction. In the neonatal group, 3 patients (5.5%) had recurrent obstruction. Of those, 2 patients had a reintervention performed; one reintervention was a balloon angioplasty and the other one was a reoperation. Kaplan-Meier analysis of the neonatal group revealed a 95.8% freedom from reintervention at 1 and 2 years. CONCLUSIONS: The end-to-side aortic anastomosis is an effective repair for coarctation of the aorta. Even when performed in the neonatal period, recurrence of coarctation is rare.

Accuracy of coronary artery anatomy using two-dimensional echocardiography in d-transposition of great arteries using a two-reviewer method.

We evaluated echocardiographic accuracy for defining coronary artery course in d-transposition of great arteries and the impact of a 2-reviewer method on this accuracy. The echocardiogram reports of 108 patients with d-transposition of great arteries were reviewed for coronary anatomy and compared with the operative report. In method 1, from January 1995 to December 1997, a single reader performed the echocardiogram. In method 2, from January 1998 to December 2000, 2 readers scanned individually and a consensus diagnosis was made. Comparing methods 1 and 2, the sensitivity of the echocardiogram to detect variants in coronary anatomy was 68% versus 86%, and negative predictive value was 72% versus 91%. Using a 2-reviewer method improved the accuracy of echocardiographic diagnosis of coronary anatomy with d-transposition of great arteries, aiding in risk assessment and treatment of the patient preoperatively. This study also illustrates that echocardiographic accuracy may be lower in an institution with a surgical volume more representative of the usual pediatric cardiothoracic surgical center.

Tissue Doppler is more sensitive and reproducible than spectral pulsed-wave Doppler for fetal right ventricle myocardial performance index determination in normal and diabetic pregnancies.

BACKGROUND: The aim of this study was to compare the reproducibility, agreement, and sensitivity of pulsed-wave Doppler tissue imaging (DTI) versus spectral Doppler assessment of right ventricular (RV) myocardial performance index (MPI) in midgestation fetuses in both a normal and a disease state. METHODS: RV MPI was calculated using pulsed-wave DTI and spectral Doppler in normal pregnancies (n = 69) and in women with pregestational diabetes (n = 51). Intraobserver and interobserver variability and agreement were evaluated using Bland-Altman analysis. Student's t tests were used for comparisons of differences. RESULTS: In normal fetuses, RV MPI derived by the two methods showed no statistical difference, were interchangeable (DTI, 0.51 ± 0.10; spectral Doppler, 0.50 ± 0.12; P = .686), and were in agreement by Bland-Altman analysis. However, in fetuses of mothers with diabetes, the two methods produced different RV MPI measurements (DTI, 0.56 ± 0.10; spectral Doppler, 0.51 ± 0.12; P < .001). Intraobserver and interobserver bias was lower for DTI. CONCLUSIONS: The DTI method of measuring fetal RV MPI is more sensitive, has less variability and more precision, and is better able to demonstrate subtle abnormalities in cardiac function than the spectral Doppler method in diabetic versus normal pregnancies.

Prenatal diagnosis of hypoplastic left heart syndrome in current era.

We sought to evaluate the relation of a prenatal diagnosis (preDx) with morbidity and mortality during the initial hospitalization in a contemporary cohort of patients with hypoplastic left heart syndrome (HLHS). A retrospective study of patients with HLHS presenting from 1999 to 2010 was performed. Patients with genetic disorders or a gestational age <34 weeks or who had intentionally received comfort care only were excluded. Of the 81 patients meeting the study criteria, 49 had a preDx and 32 were diagnosed postnatally (postDx). Birth weight (median 3.0 vs 3.4 kg; p = 0.007) and gestational age (median 38 vs 39 weeks; p <0.001) were lower in the preDx than in the postDx patients. Preoperatively, the postDx patients were intubated more frequently (97% vs 71%, p = 0.004) and ventilated longer (median 96 vs 24 hours, p = 0.005) than the preDx patients. They also had more preoperative acidosis, multiorgan failure, tricuspid valve regurgitation, and right ventricular dysfunction. Of the 73 patients undergoing surgery, no difference in survival was seen between the preDx and postDx groups (91% vs 89%). The median duration of postoperative ventilation was 7 days and the median length of stay was 36 days for the 66 survivors, with no difference between the 2 groups. Postoperative morbidities, including chylothorax and infection, were also similar in the preDx and postDx patients. No studied preoperative factor was associated with death, duration of postoperative ventilation, or length of stay. In conclusion, our recent experience has shown that preDx of HLHS was not associated with a survival advantage, fewer postoperative complications, or shorter length of stay. Improved preoperative status was observed in the preDx patients; however, they were born earlier with a lower birthweight. What effect these factors might have on longer term morbidity remains unknown.

Echocardiography-guided interventions.

A major advantage of echocardiography over other advanced imaging modalities (magnetic resonance imaging, computed tomographic angiography) is that echocardiography is mobile and real time. Echocardiograms can be recorded at the bedside, in the cardiac catheterization laboratory, in the cardiovascular intensive care unit, in the emergency room-indeed, any place that can accommodate a wheeled cart. This tremendous advantage allows for the performance of imaging immediately before, during, and after various procedures involving interventions. The purpose of this report is to review the use of echocardiography to guide interventions. We provide information on the selection of patients for interventions, monitoring during the performance of interventions, and assessing the effects of interventions after their completion. In this document, we address the use of echocardiography in commonly performed procedures: transatrial septal catheterization, pericardiocentesis, myocardial biopsy, percutaneous transvenous balloon valvuloplasty, catheter closure of atrial septal defects (ASDs) and patent foramen ovale (PFO), alcohol septal ablation for hypertrophic cardiomyopathy, and cardiac electrophysiology. A concluding section addresses interventions that are presently investigational but are likely to enter the realm of practice in the very near future: complex mitral valve repairs, left atrial appendage (LAA) occlusion devices, 3-dimensional (3D) echocardiographic guidance, and percutaneous aortic valve replacement. The use of echocardiography to select and guide cardiac resynchronization therapy has recently been addressed in a separate document published by the American Society of Echocardiography and is not further discussed in this document. The use of imaging techniques to guide even well-established procedures enhances the efficiency and safety of these procedures.

Pulmonary valve cusp augmentation with autologous pericardium may improve early outcome for tetralogy of Fallot.

OBJECTIVES: The transannular patch used to relieve right ventricular outflow tract obstruction in children with tetralogy of Fallot may result in pulmonary insufficiency. We hypothesized that pulmonary valve cusp augmentation with pericardium would decrease pulmonary insufficiency and improve the early outcome for transatrial-transpulmonary tetralogy of Fallot repair requiring transannular patch. METHODS: Since November 2001, 41 patients with tetralogy of Fallot and 2 patients with isolated pulmonary valve stenosis had relief of right ventricular outflow tract obstruction with either a transannular patch plus pulmonary valve cusp augmentation (n = 18) or a transannular patch alone (n = 25). Data were retrospectively collected. RESULTS: The median age (5.3 vs 3.2 months; P = .09) and weight (6.4 vs 5.2 kg; P = .3) were similar for the cusp augmentation and transannular patch groups, respectively. The diameter of the pulmonary valve annulus (6.4 vs 6.0 mm; P = .57) and the McGoon index (1.47 vs 1.69, P = .75) were also similar. The mean aortic clamp time (48 +/- 18 minutes vs 52 +/- 19 minutes; P = .46) and median cardiopulmonary bypass time (89 vs 91 minutes; P = .9) did not differ. One patient with a transannular patch died of multiorgan system failure. Patients with a pulmonary valve cusp augmentation had a shorter duration of intubation (1 vs 3 days; P < .001) and intensive care unit stay (2 vs 8 days; P < .001). Thirteen patients with a transannular patch and 1 patient with a pulmonary valve cusp augmentation required inotropic support for more than 72 hours (P = .001). Discharge echocardiograms demonstrated moderate or severe pulmonary insufficiency in 5 patients with a pulmonary valve cusp augmentation and in 21 patients with a transannular patch (P < .001). At 7.5 months, 3 patients (17%) with a pulmonary valve cusp augmentation had progression of pulmonary insufficiency. CONCLUSIONS: Augmentation of a pulmonary valve cusp reduces the incidence of clinically significant postoperative pulmonary insufficiency. This technique may improve the early outcome for children with tetralogy of Fallot requiring a transannular patch.

Fetal surgery for congenital diaphragmatic hernia and pulmonary sequestration complicated by postnatal diagnosis of transposition of the great arteries.

This report describes the case of a neonate who underwent fetal surgery for congenital diaphragmatic hernia (CDH) and pulmonary sequestration. His postnatal management was complicated by the additional diagnosis of transposition of the great arteries (TGA). TGA is particularly difficult to diagnose in the fetus. This triad has not previously been documented in the literature. Clinicians should have a high index of suspicion for associated anomalies, especially cardiac, when evaluating and counseling a pregnancy complicated by CDH.