Impact of maternal social vulnerability and timing of prenatal care on outcome of prenatally detected congenital heart disease.

OBJECTIVES: Early prenatal detection of congenital heart disease (CHD) allows mothers to plan for their pregnancy and delivery; however, the effect of certain sociodemographic and fetal factors on prenatal care has not been investigated thoroughly. This study evaluated the impact of maternal and fetal characteristics on the timing of prenatal diagnosis of CHD and fetal and postnatal outcomes. METHODS: This retrospective multicenter cohort study included women with a fetal echocardiographic diagnosis of CHD between 2010 and 2019. Women were grouped into quartiles of social vulnerability (quartiles 1-4; low-high) using the 2014 social vulnerability index (SVI) provided by the Centers for Disease Control and Prevention. A fetal disease severity score (range, 1-7) was calculated based on a combination of CHD severity (mild = 1; moderate = 2; severe, two ventricles = 3; severe, single ventricle = 4 points) and prenatally diagnosed genetic abnormality, non-cardiac abnormality and fetal hydrops (1 point each). Late diagnosis was defined as a fetal echocardiographic diagnosis of CHD after 24 weeks' gestation. Univariate and multivariable regression analyses were used to identify factors associated with late diagnosis, termination of pregnancy (TOP), postnatal death, prenatal-postnatal discordance in CHD diagnosis and severity and, for liveborn infants, to identify which prenatal variables were associated with postnatal death or heart transplant. RESULTS: Among 441 pregnancies included, 94 (21%) had a late diagnosis of CHD. Late diagnosis was more common in the most socially vulnerable quartile, 38% of women in this group having diagnosis > 24 weeks, compared with 14-18% in the other three quartile groups. Late diagnosis was also associated with Catholic or other Christian religion vs non-denominational or other religion and with a lower fetal disease severity score. There were 93 (21%) TOP and 26 (6%) in-utero fetal demises. Factors associated with TOP included early diagnosis and greater fetal disease severity. Compared with the other quartiles, the most socially vulnerable quartile had a higher incidence of in-utero fetal demise and a lower incidence of TOP. Among the 322 liveborn infants, 49 (15%) died or underwent heart transplant during the follow-up period (range, 0-16 months). Factors associated with postnatal death or heart transplant included longer delay between obstetric ultrasound examination at which CHD was first suspected and fetal echocardiogram at which CHD was confirmed and greater fetal disease severity. CONCLUSIONS: High social vulnerability, Catholic or other Christian religion and low fetal disease severity are associated with late prenatal CHD diagnosis. Delays in CHD diagnosis are associated with fewer TOPs and worse postnatal outcome. Therefore, efforts to expedite fetal echocardiography following abnormal obstetric screening, particularly for at-risk women (e.g. those with high SVI), have the potential to impact pregnancy and postnatal outcome among the prenatally diagnosed CHD population. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Improved technical success, postnatal outcome and refined predictors of outcome for fetal aortic valvuloplasty.

OBJECTIVES: Fetal aortic valvuloplasty (FAV) may prevent progression of mid-gestation aortic stenosis to hypoplastic left heart syndrome (HLHS). The aim of this study was to evaluate whether technical success and biventricular (Biv) outcome after FAV have changed from an earlier (2000-2008) to a more recent (2009-2015) era and identify pre-FAV predictors of Biv outcome. METHODS: We evaluated procedural and postnatal outcomes in 123 fetuses that underwent FAV for evolving HLHS at Boston Children's Hospital between 2000 and 2015. The primary outcome measure was circulation type (Biv vs single ventricle) at the time of neonatal hospital discharge. Classification and regression tree (CART) analysis was performed to construct a stratification algorithm to predict Biv circulation based on pre-FAV fetal variables. RESULTS: The FAV procedure was technically successful in 101/123 (82%) fetuses, with a higher technical success rate in the more recent era than in the earlier one (49/52 (94%) vs 52/71 (73%); P = 0.003). In liveborn patients, the incidence of Biv outcome was higher in the recent than in the earlier era, both in the entire liveborn cohort (29/49 (59%) vs 16/62 (26%); P = 0.001) and in those in whom the procedure was technically successful (27/46 (59%) vs 15/47 (32%); P = 0.007). Independent predictors of Biv outcome were higher left ventricular (LV) pressure, larger ascending aorta, better LV diastolic function and higher LV long-axis Z-score. On CART analysis, fetuses with LV pressure > 47 mmHg and ascending aorta Z-score ≥ 0.57 had a 92% probability of Biv outcome (n = 24). Those with a lower LV pressure, or mitral dimension Z-score < 0.1 and mitral valve inflow time Z-score < -2 (n = 34) were unlikely to have Biv (probability of 9%). The remainder of the patients had an intermediate (∼40-60%) likelihood of Biv circulation. CONCLUSIONS: The proportion of patients achieving Biv outcome after FAV has increased, probably owing to an improved technical success rate and modified selection criteria. Fetal factors, including LV pressure, size of the ascending aorta and diastolic function, are associated with likelihood of Biv circulation after FAV. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Cardiac output and blood flow redistribution in fetuses with D-loop transposition of the great arteries and intact ventricular septum: insights into pathophysiology.

OBJECTIVES: Although the postnatal physiology of D-loop transposition of the great arteries with intact ventricular septum (D-TGA/IVS) is well established, little is known about fetal D-TGA/IVS. In the normal fetus, the pulmonary valve (PV) is larger than the aortic valve (AoV), there is exclusive right-to-left flow at the foramen ovale (FO) and ductus arteriosus (DA), and the left ventricle (LV) ejects 40% of combined ventricular output (CVO) through the aorta, primarily to the brain. In D-TGA/IVS, the LV ejects oxygen-rich blood to the pulmonary artery, theoretically leading to pulmonary vasodilation, increased branch pulmonary artery flow and reduced DA flow. In this study, we tested the hypothesis that D-TGA/IVS anatomy results in altered cardiac valve sizes, ventricular contribution to CVO, and FO and DA flow direction. METHODS: Seventy-four fetuses with D-TGA/IVS that underwent fetal echocardiography at our institution between 2004 and 2015 were included in the study. AoV, PV, mitral valve and tricuspid valve sizes were measured and Z-scores indexed to gestational age were generated. Ventricular output was calculated using Doppler-derived velocity-time integral, and direction of flow at the FO and DA shunts was recorded in each fetus using both color Doppler and flap direction. Measurements in the D-TGA/IVS fetuses were compared with data of 222 controls, matched for gestational-age range, from our institutional normal fetal database. RESULTS: The LV component of CVO was higher in D-TGA/IVS fetuses than in controls (50.7% vs 40.2%; P < 0.0001), with no difference in the total CVO. Flow was bidirectional at the FO in 56 (75.7%) and at the DA in 24 (32.4%) D-TGA/IVS fetuses. Only 21.6% fetuses had normal right-to-left flow at both shunts. Bidirectional shunting was more common in third-trimester fetuses than in second-trimester ones (P < 0.03). AoV and PV diameters were nearly identical in D-TGA/IVS in contrast to control fetuses, hence AoV Z-score was higher than PV Z-score (1.13 vs -0.65, P < 0.0001) in D-TGA/IVS. CONCLUSIONS: In fetuses with D-TGA/IVS there is loss of the normal right-sided dominance, as each ventricle provides half of the CVO, with a relatively large AoV diameter and a small PV diameter, and high incidence of bidirectional FO and DA flow. This may support the theory that high pulmonary artery oxygen content reduces pulmonary vascular resistance, thereby increasing branch pulmonary artery flow and venous return, which results in increased LV preload and output. Pulmonary sensitivity to oxygen is thought to increase later in gestation, which may explain the higher incidence of bidirectional shunting. Consequences of these flow alterations include increased aortic and, most likely, brain flow, perhaps in an attempt to compensate for the substrate deficiency observed in D-TGA/IVS. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Perinatal outcome after prenatal diagnosis of single-ventricle cardiac defects.

OBJECTIVES: To investigate the perinatal outcome of cases with a prenatal diagnosis of single-ventricle cardiac defects, single ventricle being defined as a dominant right ventricle (RV) or left ventricle (LV), in which biventricular circulation was not possible. METHODS: We reviewed patients with a prenatal diagnosis of single-ventricle cardiac defects, made at one institution between 1995 and 2008. Cases diagnosed with double-inlet LV, tricuspid atresia, pulmonary atresia with intact ventricular septum and severe RV hypoplasia and those with hypoplastic left heart syndrome (HLHS) were included in the study population. Patients with HLHS were identified prenatally as being standard risk or high risk (HLHS with highly restrictive or intact atrial septum, mitral stenosis with aortic atresia and/or LV coronary artery sinusoids). Patients with an address over 200 miles from the hospital, diagnosed with heterotaxy syndrome or referred for fetal intervention, were excluded. RESULTS: We identified 312 cases of single-ventricle cardiac defect (208 dominant RV; 104 dominant LV) that were diagnosed prenatally. Most (96%) patients with a dominant RV had HLHS. Among the total 312 cases there were 98 (31%) elective terminations of pregnancy (TOP), 12 (4%) cases of spontaneous fetal demise, 12 (4%) cases lost to prenatal follow-up and 190 (61%) live births. Among the 199 patients that underwent fetal echocardiography before 24 weeks' gestation, there were 97 (49%) cases of elective TOP. There was no difference in prenatal outcome between those with a dominant RV and those with a dominant LV (P = 0.98). Of the 190 live births, five received comfort care. With an average of 7 years' follow-up (to obtain data on the Fontan procedure), transplantation-free survival was lower in those with a dominant RV than in those with a dominant LV (standard-risk HLHS odds ratio (OR), 3.0 (P = 0.01); high-risk HLHS OR, 8.8 (P < 0.001)). CONCLUSIONS: The prenatal outcome of cases with single-ventricle cardiac defects was similar between those with a dominant RV and those with a dominant LV, however postnatal intermediate-term survival favored those with a dominant LV. High-risk HLHS identified prenatally was associated with the lowest transplantation-free survival.

Low rate of prenatal diagnosis among neonates with critical aortic stenosis: insight into the natural history in utero.

OBJECTIVES: To better understand the natural history and spectrum of fetal aortic stenosis (AS), we aimed to (1) determine the prenatal diagnosis rate of neonates with critical AS and a biventricular (BV) outcome, and (2) describe the findings at fetal echocardiography in patients diagnosed prenatally. METHODS: A multicenter, retrospective study was performed on neonates who presented with critical AS and who were discharged with a BV outcome from 2000 to 2013. The prenatal diagnosis rate was compared with that reported for hypoplastic left heart syndrome (HLHS). We reviewed fetal echocardiographic findings in patients who were diagnosed prenatally. RESULTS: In only 10 (8.5%) of 117 neonates with critical AS and a BV outcome was the diagnosis made prenatally, a rate significantly lower than that for HLHS in the contemporary era (82%; P < 0.0001). Of the 10 patients diagnosed prenatally, all had developed left ventricular dysfunction by a median gestational age of 33 (range, 28-35) weeks. When present, Doppler abnormalities such as retrograde flow in the aortic arch (n = 2), monophasic mitral inflow (n = 3) and left-to-right flow across the foramen ovale (n = 8) developed late in gestation (median 33 weeks). CONCLUSION: The prenatal diagnosis rate of critical AS and a BV outcome among neonates is very low, probably owing to a relatively normal four-chamber view in mid-gestation with development of significant obstruction in the third trimester. The natural history contrasts with that of severe mid-gestation AS with evolving HLHS and suggests that the gestational timing of development of significant AS has an important impact on subsequent left-heart growth in utero.

Prenatal diagnosis of transposition of the great arteries over a 20-year period: improved but imperfect.

OBJECTIVE: To evaluate temporal trends in the prenatal diagnosis of transposition of the great arteries with intact ventricular septum (TGA/IVS) and its impact on neonatal morbidity and mortality. METHODS: We included in this study cohort newborns with TGA/IVS who were referred for surgical management to our center over a 20-year period (1992-2011). The study period was divided into five 4-year periods and the primary outcome was rate of prenatal diagnosis. Secondary outcomes included neonatal preoperative status and perioperative survival. RESULTS: Of the 340 patients with TGA/IVS, 81 (23.8%) had a prenatal diagnosis. The rate of prenatal diagnosis increased over the study period, from 6% in 1992-1995 to 41% in 2008-2011 (P < 0.001). Compared to patients with a postnatal diagnosis, balloon atrial septostomy (BAS) was performed earlier in patients with a prenatal diagnosis (0 days after delivery vs 1 day after delivery, respectively; P < 0.001) and fewer prenatally diagnosed neonates required mechanical ventilation (55.6% vs 68.0%; P = 0.03). Between patients with a prenatal or postnatal diagnosis of TGA/IVS, there were no statistically significant differences in the incidence of preoperative acidosis (16.0% vs 25.5%; P = 0.1), need for preoperative extracorporeal membrane oxygenation (2.5% vs 2.7%; P = 1.0) or mortality (one preoperative and no postoperative deaths among prenatally diagnosed patients compared with four preoperative and six postoperative deaths among postnatally diagnosed patients). CONCLUSIONS: The prenatal detection rate of TGA/IVS has improved but still remains below 50%, suggesting the need for strategies to increase detection rates. The mortality rate was not statistically significantly different between prenatally and postnatally diagnosed patients, however, there were significant preoperative differences with regard to earlier BAS and fewer neonates that required mechanical ventilation. Ongoing work is required to ascertain whether prenatal diagnosis confers long-term benefits.

Delayed cortical development in fetuses with complex congenital heart disease.

Neurologic impairment is a major complication of complex congenital heart disease (CHD). A growing body of evidence suggests that neurologic dysfunction may be present in a significant proportion of this high-risk population in the early newborn period prior to surgical interventions. We recently provided the first evidence that brain growth impairment in fetuses with complex CHD has its origins in utero. Here, we extend these observations by characterizing global and regional brain development in fetuses with hypoplastic left heart syndrome (HLHS), one of the most severe forms of CHD. Using advanced magnetic resonance imaging techniques, we compared in vivo brain growth in 18 fetuses with HLHS and 30 control fetuses from 25.4-37.0 weeks of gestation. Our findings demonstrate a progressive third trimester fall-off in cortical gray and white matter volumes (P < 0.001), and subcortical gray matter (P < 0.05) in fetuses with HLHS. Significant delays in cortical gyrification were also evident in HLHS fetuses (P < 0.001). In the HLHS fetus, local cortical folding delays were detected as early as 25 weeks in the frontal, parietal, calcarine, temporal, and collateral regions and appear to precede volumetric brain growth disturbances, which may be an early marker of elevated risk for third trimester brain growth failure.

Left ventricular function and geometry in fetuses with severe tricuspid regurgitation.

OBJECTIVE: Neonatal congenital tricuspid valve (TV) dysplasia and/or displacement (Ebstein's malformation) with severe tricuspid regurgitation (TR) is a challenging condition in which outcomes are frequently poor. Little is known about left ventricular (LV) function during the perinatal period in patients with congenital TV disease. The objective of this study was to evaluate LV function in fetuses with congenital TV anomalies associated with significant TR. METHODS: Serial fetal echocardiograms in 16 fetuses with congenital TV dysplasia and/or displacement (five neonatal survivors and 11 fetal or neonatal deaths) were reviewed. LV stroke volume, LV end-diastolic volume (LVEDV), LV end-diastolic dimension (LVIDd), the LV eccentricity index, thoracic and cardiac areas and the cardiothoracic area ratio (CTAR), the right atrium area index, and LV longitudinal strains were compared according to gestational age and clinical outcome. RESULTS: The gestational age-adjusted LVEDV (Z-score) was lower in late gestation (-1.2 ± 1.2 at last examination ≥ 28 weeks) than earlier in gestation (0.3 ± 1.5 at last examination < 28 weeks) and LV output was lower than reported late-gestation normal values. LV short-axis dimension correlated with LV volume and CTAR. LV mid-septal strain was lower than the normal average of fetal mid-septal strain and correlated with the LV eccentricity index. Among these parameters, only the LV eccentricity index differed between survivors and non-survivors. CONCLUSION: LV function and anatomy are abnormal in fetuses with severe congenital TV anomalies and may be important contributors to outcome.

Significance and outcome of left heart hypoplasia in fetal congenital diaphragmatic hernia.

OBJECTIVE: In patients with a left-sided congenital diaphragmatic hernia (CDH), the left ventricle (LV) is often compressed and smaller than normal. The objective of this study was to investigate whether small left heart dimensions prenatally normalize after birth in patients with CDH, or whether prenatal indices of left heart size and flow predict postnatal outcome. METHODS: Clinical and echocardiographic data were reviewed for patients diagnosed with left-sided CDH prenatally. Cardiac dimensions and flows were compared with normative data. Among liveborn patients, pre- and postnatal Z-scores of left heart structures were compared, and associations between prenatal indices and outcome were assessed. RESULTS: Of 125 patients diagnosed prenatally with CDH, 111 had a left-sided defect. Of these, 85 were liveborn, including 20 with congenital heart disease. Gestational age-adjusted dimensions of fetal left heart structures, including aortic valve diameter, mitral valve (MV) diameter, LV long-axis, LV short-axis and LV volume, were all smaller than normal (P < 0.001). On average, the LV contributed 33 +/- 8% of combined ventricular output, lower than the normal 40-50%. Z-scores of left heart structures increased from the prenatal echocardiogram to the postnatal study, with average changes ranging from 0.56 +/- 1.68 (aortic valve) to 1.39 +/- 1.85 (LV volume). Among liveborn patients, there was no association between prenatal left heart Z-scores and postnatal survival. CONCLUSIONS: Hypoplasia of and reduced flow through the left heart are common among fetuses with CDH. After birth and CDH repair, left heart dimensions generally normalize, with adequate size to support a biventricular circulation, even when there is very low flow through the left heart in mid- and late-gestation.

Association of Isolated Congenital Heart Disease with Fetal Brain Maturation.

BACKGROUND AND PURPOSE: Brain MRI of newborns with congenital heart disease show signs of immaturity relative to healthy controls. Our aim was to determine whether the semiquantitative fetal total maturation score can detect abnormalities in brain maturation in fetuses with congenital heart disease in the second and third trimesters. MATERIALS AND METHODS: We analyzed data from a prospective study of fetuses with and without congenital heart disease who underwent fetal MR imaging at 25-35 weeks' gestation. Two independent neuroradiologists blinded to the clinical data reviewed and scored all images using the fetal total maturation score. Interrater reliability was evaluated by the intraclass correlation coefficient using the individual reader scores, which were also used to calculate an average score for each subject. Comparisons of the average and individual reader scores between affected and control fetuses and relationships with clinical variables were evaluated using multivariable linear regression. RESULTS: Data from 69 subjects (48 cardiac, 21 controls) were included. High concordance was observed between readers with an intraclass correlation coefficient of 0.98 (95% CI, 0.97-0.99). The affected group had significantly lower fetal total maturation scores than the control group (ß-estimate, -0.9 [95% CI, -1.5 to -0.4], P = .002), adjusting for gestational age and sex. Averaged fetal total maturation, germinal matrix, myelination, and superior temporal sulcus scores were significantly delayed in fetuses with congenital heart disease versus controls (P < .05 for each). The fetal total maturation score was not significantly associated with any cardiac, anatomic, or physiologic variables. CONCLUSIONS: The fetal total maturation score is sensitive to differences in brain maturation between fetuses with isolated congenital heart disease and healthy controls.

Brain Injury in Neonates with Complex Congenital Heart Disease: What Is the Predictive Value of MRI in the Fetal Period?

BACKGROUND AND PURPOSE: Brain injury in neonates with congenital heart disease is an important predictor of adverse neurodevelopmental outcome. Impaired brain development in congenital heart disease may have a prenatal origin, but the sensitivity and specificity of fetal brain MR imaging for predicting neonatal brain lesions are currently unknown. We sought to determine the value of conventional fetal MR imaging for predicting abnormal findings on neonatal preoperative MR imaging in neonates with complex congenital heart disease. MATERIALS AND METHODS: MR imaging studies were performed in 103 fetuses with confirmed congenital heart disease (mean gestational age, 31.57 ± 3.86 weeks) and were repeated postnatally before cardiac surgery (mean age, 6.8 ± 12.2 days). Each MR imaging study was read by a pediatric neuroradiologist. RESULTS: Brain abnormalities were detected in 17/103 (16%) fetuses by fetal MR imaging and in 33/103 (32%) neonates by neonatal MR imaging. Only 9/33 studies with abnormal neonatal findings were preceded by abnormal findings on fetal MR imaging. The sensitivity and specificity of conventional fetal brain MR imaging for predicting neonatal brain abnormalities were 27% and 89%, respectively. CONCLUSIONS: Brain abnormalities detected by in utero MR imaging in fetuses with congenital heart disease are associated with higher risk of postnatal preoperative brain injury. However, a substantial proportion of anomalies on postnatal MR imaging were not present on fetal MR imaging; this result is likely due to the limitations of conventional fetal MR imaging and the emergence of new lesions that occurred after the fetal studies. Postnatal brain MR imaging studies are needed to confirm the presence of injury before open heart surgery.

Improved surgical outcome after fetal diagnosis of hypoplastic left heart syndrome.

BACKGROUND: Hypoplastic left heart syndrome (HLHS) is frequently diagnosed prenatally, but this has not been shown to improve surgical outcome. METHODS AND RESULTS: We reviewed patients with HLHS between July 1992 and March 1999 to determine the influence of prenatal diagnosis on preoperative clinical status, outcomes of stage 1 surgery, and parental decisions regarding care. Of 88 patients, 33 were diagnosed prenatally and 55 after birth. Of 33 prenatally diagnosed patients, 22 were live-born, and pregnancy was terminated in 11. Of 22 prenatally diagnosed patients who were live-born, 14 underwent surgery, and parents elected to forego treatment in 8. Of 55 patients diagnosed postnatally, 38 underwent surgery, and 17 did not because of parental decisions or clinical considerations. Prenatally diagnosed patients were less likely to undergo surgery than patients diagnosed after birth (P:=0.008). Among live-born infants, there was a similar rate of nonintervention. Among patients who underwent surgery, survival was 75% (39/52). All patients who had a prenatal diagnosis and underwent surgery survived, whereas only 25 of 38 postnatally diagnosed patients survived (P:=0.009). Patients diagnosed prenatally had a lower incidence of preoperative acidosis (P:=0.02), tricuspid regurgitation (P:=0.001), and ventricular dysfunction (P:=0.004). They were also less likely to need preoperative inotropic medications or bicarbonate (P:=0.005). Preoperative factors correlating with early mortality included postnatal diagnosis (P:=0.009), more severe acidosis (P:=0.03), need for bicarbonate or inotropes (P:=0.008 and 0.04), and ventricular dysfunction (P:=0.05). CONCLUSIONS: Prenatal diagnosis of HLHS was associated with improved preoperative clinical status and with improved survival after first-stage palliation in comparison with patients diagnosed after birth.

Pulmonary blood flow alters nitric oxide production in patients undergoing device closure of atrial septal defects.

OBJECTIVE: To determine the effect of pulmonary blood flow (Qp) on nitric oxide (NO) production in patients with increased Qp due to an atrial septal defect (ASD). BACKGROUND: Alterations in pulmonary vascular NO production have been implicated in the development of pulmonary hypertension secondary to increased Qp. In vitro, acute changes in flow or shear stress alter NO production. However, the effect of Qp on lung NO production in vivo is unclear. METHODS: Nineteen patients (2.4-61 years of age, median 17) with secundum ASD undergoing device closure were studied. Before, and 30 min after ASD closure, exhaled NO and plasma nitrate concentration were measured by chemiluminescence (NOA 280, Sievers, Boulder, Colorado). RESULTS: Before ASD closure, all patients had increased Qp (Qp: systemic blood flow [Qs] of 2.0 +/- 0.7) and normal mean pulmonary arterial pressure (13.4 +/- 3.1 mm Hg). Atrial septal defect device closure decreased Qp from 6.0 +/- 2.5 to 3.6 +/- 1.3 L/min/m2 (p < 0.05). Mean pulmonary arterial pressure was unchanged. Associated with the decrease in Qp, both exhaled NO (-22.1%, p < 0.05) and plasma nitrate concentrations (-17.9%, p < 0.05) decreased. CONCLUSIONS: These data represent the first demonstration that acute changes in Qp alter pulmonary NO production in vivo in humans. Exhaled NO determinations may provide a noninvasive assessment of pulmonary vascular NO production in patients with congenital heart disease. Potential correlations between exhaled NO, pulmonary vascular reactivity and pulmonary hypertension warrant further study.

Echocardiographic diagnosis alone for the complete repair of major congenital heart defects.

OBJECTIVES: The study was done to determine the diagnostic accuracy of echocardiography alone in the preoperative diagnosis of children with major congenital heart defects undergoing primary complete repair. BACKGROUND: Although echocardiography is well established as the first-line imaging technique for the diagnosis of all forms of congenital heart disease, most institutions continue to perform cardiac catheterization prior to complete repair of more complex defects. METHODS: To determine the diagnostic accuracy of echocardiography alone and echocardiography plus catheterization, we reviewed the records of 503 children with major congenital heart defects who underwent primary complete repair at our institution between July 1992 and June 1997. We included children with transposition of the great arteries, tetralogy of Fallot, double-chamber right ventricle, interrupted aortic arch, aortic coarctation, atrioventricular septal defect, truncus arteriosus, aortopulmonary septal defect, and totally anomalous pulmonary venous return. We excluded children with less complex defects such as isolated shunt lesions, as well as those with the most complex defects that would require surgical palliation (e.g., functional univentricular heart). We defined major errors as those that increased the surgical risk and minor errors as those that did not. Errors in diagnosis were determined at surgery. RESULTS: Eighty-two percent of children (412 of 503) underwent surgery after preoperative diagnosis by echocardiography alone. There were 9 major (2%) and 10 minor errors in the echocardiography alone group and 7 major and 5 minor errors in the echocardiography plus catheterization group. The most common type of error was misidentification of coronary artery anatomy in patients with transposition of the great arteries. No error in either group resulted in surgical morbidity or mortality. CONCLUSIONS: This study suggests that echocardiography alone is an accurate tool for the preoperative diagnosis of major congenital heart defects in most children undergoing primary complete repair, and may obviate the need for routine diagnostic catheterization.

Early and late results after repair of aortopulmonary septal defect and associated anomalies in infants <6 months of age.

The Richardson classification system for aortopulmonary septal defect (APSD) includes simple defects between the ascending aorta and pulmonary trunk (type I), defects extending distally to include the origin of the right main pulmonary artery (type II), and anomalous origin of the right main pulmonary artery from the ascending aorta with no other aortopulmonary communication (type III). These are rare lesions that must be repaired in early infancy to avoid development of pulmonary vascular disease. Few reports have focused on patients with complex, associated lesions who underwent repair in early infancy. Between 1972 and 1995, 24 patients with Richardson type I (n = 11), II (n = 7), or III (n = 6) defects underwent repair at ages ranging from 2 to 172 days (median 34). Twelve patients had complex, associated anomalies, including interrupted or hypoplastic arch (n = 9), tetralogy of Fallot with (n = 1) or without (n = 1) pulmonary atresia, and transposition of the great arteries (n = 1). The most recent 7 patients were diagnosed by echocardiography without cardiac catheterization. There were no early or late deaths among the 12 patients with simple APSD. Four patients with complex, associated lesions died in the early postoperative period and another died 4 months after surgery. All 6 surviving patients with interrupted arch have had recurrent obstruction at the arch repair site, although reintervention for this reason has been performed in only 2 patients. Altogether, 6 early survivors have required reintervention, and all survivors are in New York Heart Association class I at follow-up ranging from 2 to 25 years. Thus, long-term survival after repair of APSD in early infancy is excellent. Late sequelae are likely to be related either to associated lesions or to obstruction at the APSD repair site. Almost all cases of APSD in young infants can be diagnosed and evaluated by echocardiography without catheterization.

Multiple ventricular septal defects: how and when should they be repaired?

BACKGROUND: Congenital heart lesions with multiple ventricular septal defects remain a surgical challenge. Traditional approaches often rely on either ventriculotomy for exposure or palliation with pulmonary artery banding. However, indications for repair versus palliation and for various approaches to surgical exposure are not clearly defined. METHODS: From July 1992 to January 1998, 45 patients with multiple (>/=2) ventricular septal defects (37 with associated lesions) underwent surgery. Median age was 86 days; all but 4 patients were infants. The mean number of defects was 3.7, and almost half of the patients had more than 3 defects. Apical muscular defects were present in 62% of patients. Thirty-one patients underwent primary complete repair through a right atriotomy or trans-semilunar valve approach (group 1), 8 had palliation (group 2), and 6 underwent complete repair after prior palliation elsewhere (group 3). No patient had a ventriculotomy. RESULTS: One early death occurred in a group 1 patient. Four patients who had had palliation (50%) underwent early reoperation for pulmonary artery band revision because of failure to thrive or band removal after spontaneous closure of the defects. At follow-up (median 22 months), there was 1 death in a group 2 patient (palliation) and 1 other group 2 patient required cardiac transplantation. The only late reoperation was for removal of the pulmonary artery band and closure of multiple apical defects in a group 2 (palliation) patient. No patients who underwent repair have hemodynamically significant residual defects. CONCLUSIONS: In our experience, palliation of multiple ventricular septal defects is associated with greater morbidity than primary repair. Multiple defects can almost always be repaired adequately in early infancy without ventriculotomy, although "Swiss-cheese" septum may be an indication for palliation.

Congenital obstructive lesions of the right aortic arch.

BACKGROUND: In the setting of normal cardiac situs, a right-sided aortic arch is uncommon. When a right arch does occur, it is typically in conjunction with other congenital cardiovascular anomalies, especially defects with abnormal right ventricular outflow. Congenital obstruction of a right arch, caused by coarctation, interruption, or cervical arch, is extremely rare. METHODS: We reviewed our experience and all reported cases of right aortic arch with coarctation of the aorta, interrupted arch, or obstruction of a cervical arch in the setting of normal cardiac situs and topology. RESULTS: Since 1992, 4 such patients have undergone repair at our institution, including 1 with interrupted arch, 1 with coarctation of a mirror image arch, and 2 with obstruction of a cervical arch. In addition to these 4 patients, 38 others have been described in the published reports: 15 with interrupted arch, 19 with coarctation, and 4 with obstruction of a cervical arch. Associated cardiac defects were uncommon, except for ventricular septal defect in patients with interrupted arch, but abnormalities of the brachiocephalic vessels were frequent. Except for most of the patients with interrupted right arch, the majority of patients described have undergone successful surgical repair. CONCLUSIONS: Although obstructive arch lesions are often grouped together, the etiologies of coarctation of the aorta, interrupted arch, and cervical arch with obstruction almost certainly differ. The rarity of such lesions among patients with right aortic arch may be explained in part by the fact that the fetal hemodynamic conditions associated with persistence of a right arch do not facilitate flow-related arch obstruction. In this review, we discuss these issues in detail, along with specific surgical considerations in the management of obstruction lesions of the right aortic arch.