Reversal of Fetal Heart Block in Antibody-Positive Mother After Hydroxychloroquine and Dexamethasone.

Maternal autoantibody-related complete heart block in the fetus is considered irreversible. During prenatal care for a 25-year-old nulliparous Hispanic woman with newly diagnosed nephrotic-range proteinuria and positive anti-nuclear antigen antibody, complete fetal heart block with a ventricular rate of 60 beats per minute was detected on a fetal echocardiogram at 28-week gestation. A small pericardial effusion and ascites were noted consistent with fetal hydrops. Dexamethasone and hydroxychloroquine were initiated. Fetal rhythm improved to Mobitz type 1 second-degree heart block, with a ventricular rate of 91 beats per minute. The fetus was born prematurely at 34-week gestation with second-degree heart block which improved to first-degree heart block prior to hospital discharge. First-degree heart block persisted at 2 years of age with a P-R interval of 185 ms. Transplacental treatment with dexamethasone and hydroxychloroquine was associated with sustained reversal of complete heart block to sinus rhythm.

Single-Stage Surgical Management of Atrioventricular Septal Defects with Coarctation of the Aorta.

Surgical options for coarctation of aorta (CoA) with atrioventricular septal defect (AVSD) include single-stage repair vs. staged approach with neonatal CoA repair and delayed AVSD repair. The durability of left atrioventricular valve (LAVV) function after neonatal repair is questioned, and the optimal approach remains controversial. Eighteen CoA-AVSD patients who underwent single-stage repair 2005-2015 by a single surgeon were retrospectively analyzed. Fifteen patients had complete and three had partial AVSD. Birth weight was 3.19 kg (2.17-4.08). Age at surgery was 16 days (6-127). One- and ten-year survival were 80% and 69%. Freedom from reintervention was 60% and 40% at one and ten-year respectively. Reinterventions included relief of left ventricular outflow tract obstruction (LVOTO) (n = 4), repair of cleft LAVV (n = 3), and LAVV and aortic valve replacement (n = 1). Freedom from LAVV reintervention was 85.6% and 66% at 1 and 10 years respectively. There were four deaths: two post-operative and two following hospital discharge. Mortality was due to sepsis in three patients, and heart failure related to LVOTO and LAVV insufficiency in one. At 68-month (0.6-144) follow-up the majority had mild or less LAVV regurgitation, and all had normal LV dimension and systolic function. There was no recurrent arch obstruction. Single-stage surgical repair of CoA-AVSD is feasible and reasonable. Survival and freedom from reintervention in our cohort approximate those outcomes of two-stage repair with durable left AV valve function and no recurrent arch obstruction. These patients are frequently syndromic and demonstrate mortality risk from non-cardiac causes. Consideration of a single-staged approach is warranted for appropriate patients with CoA-AVSD.

Impact of Socioeconomic Status, Race and Ethnicity, and Geography on Prenatal Detection of Hypoplastic Left Heart Syndrome and Transposition of the Great Arteries.

BACKGROUND: Prenatal detection (PND) has benefits for infants with hypoplastic left heart syndrome (HLHS) and transposition of the great arteries (TGA), but associations between sociodemographic and geographic factors with PND have not been sufficiently explored. This study evaluated whether socioeconomic quartile (SEQ), public insurance, race and ethnicity, rural residence, and distance of residence (distance and driving time from a cardiac surgical center) are associated with the PND or timing of PND, with a secondary aim to analyze differences between the United States and Canada. METHODS: In this retrospective cohort study, fetuses and infants <2 months of age with HLHS or TGA admitted between 2012 and 2016 to participating Fetal Heart Society Research Collaborative institutions in the United States and Canada were included. SEQ, rural residence, and distance of residence were derived using maternal census tract from the maternal address at first visit. Subjects were assigned a SEQ z score using the neighborhood summary score or Canadian Chan index and separated into quartiles. Insurance type and self-reported race and ethnicity were obtained from medical charts. We evaluated associations among SEQ, insurance type, race and ethnicity, rural residence, and distance of residence with PND of HLHS and TGA (aggregate and individually) using bivariate analysis with adjusted associations for confounding variables and cluster analysis for centers. RESULTS: Data on 1862 subjects (HLHS: n=1171, 92% PND; TGA: n=691, 58% PND) were submitted by 21 centers (19 in the United States). In the United States, lower SEQ was associated with lower PND in HLHS and TGA, with the strongest association in the lower SEQ of pregnancies with fetal TGA (quartile 1, 0.78 [95% CI, 0.64-0.85], quartile 2, 0.77 [95% CI, 0.64-0.93], quartile 3, 0.83 [95% CI, 0.69-1.00], quartile 4, reference). Hispanic ethnicity (relative risk, 0.85 [95% CI, 0.72-0.99]) and rural residence (relative risk, 0.78 [95% CI, 0.64-0.95]) were also associated with lower PND in TGA. Lower SEQ was associated with later PND overall; in the United States, rural residence and public insurance were also associated with later PND. CONCLUSIONS: We demonstrate that lower SEQ, Hispanic ethnicity, and rural residence are associated with decreased PND for TGA, with lower SEQ also being associated with decreased PND for HLHS. Future work to increase PND should be considered in these specific populations.

Risk Factors for Mortality and Circulatory Outcome Among Neonates Prenatally Diagnosed With Ebstein Anomaly or Tricuspid Valve Dysplasia: A Multicenter Study.

Background In a recent multicenter study of perinatal outcome in fetuses with Ebstein anomaly or tricuspid valve dysplasia, we found that one third of live-born patients died before hospital discharge. We sought to further describe postnatal management strategies and to define risk factors for neonatal mortality and circulatory outcome at discharge. Methods and Results This 23-center, retrospective study from 2005 to 2011 included 243 fetuses with Ebstein anomaly or tricuspid valve dysplasia. Among live-born patients, clinical and echocardiographic factors were evaluated for association with neonatal mortality and palliated versus biventricular circulation at discharge. Of 176 live-born patients, 7 received comfort care, 11 died <24 hours after birth, and 4 had insufficient data. Among 154 remaining patients, 38 (25%) did not survive to discharge. Nearly half (46%) underwent intervention. Mortality differed by procedure; no deaths occurred in patients who underwent right ventricular exclusion. At discharge, 56% of the cohort had a biventricular circulation (13% following intervention) and 19% were palliated. Lower tricuspid regurgitation jet velocity (odds ratio [OR], 2.3 [1.1-5.0], 95% CI, per m/s; P=0.025) and lack of antegrade flow across the pulmonary valve (OR, 4.5 [1.3-14.2]; P=0.015) were associated with neonatal mortality by multivariable logistic regression. These variables, along with smaller pulmonary valve dimension, were also associated with a palliated outcome. Conclusions Among neonates with Ebstein anomaly or tricuspid valve dysplasia diagnosed in utero, a variety of management strategies were used across centers, with poor outcomes overall. High-risk patients with low tricuspid regurgitation jet velocity and no antegrade pulmonary blood flow should be considered for right ventricular exclusion to optimize their chance of survival.

Assessment of Progressive Pathophysiology After Early Prenatal Diagnosis of the Ebstein Anomaly or Tricuspid Valve Dysplasia.

In fetuses with Ebstein anomaly or tricuspid valve dysplasia (EA/TVD), poor hemodynamic status is associated with worse neonatal outcome. It is not known whether EA/TVD fetuses with more favorable physiology earlier in gestation progress to more severe disease in the third trimester. We evaluated if echocardiographic indexes in EA/TVD fetuses presenting <24 weeks of gestation are reliable indicators of physiologic status later in pregnancy. This multicenter, retrospective study included 51 fetuses presenting at <24 weeks of gestation with EA/TVD and serial fetal echocardiograms ≥4 weeks apart. We designated the following as markers of poor outcome: absence of anterograde flow across the pulmonary valve, pulmonary valve regurgitation, cardiothoracic area ratio >0.48, left ventricular (LV) dysfunction, or tricuspid valve (TV) annulus Z-score >5.6. Median gestational age at diagnosis was 21 weeks (range, 18 to 24). Eighteen fetuses (35%) had no markers for poor hemodynamic status initially, whereas only 7 of these continued to have no markers of poor outcome in the third trimester. Nine of 27 fetuses (33%) with anterograde pulmonary blood flow on the first echocardiogram developed pulmonary atresia; 7 of 39 (18%) developed new pulmonary valve regurgitation. LV dysfunction was present in 2 (4%) patients at <24 weeks but in 14 (37%) later (p <0.001). The TV annulus Z-score and cardiothoracic area both increased from diagnosis to follow-up. In conclusion, progressive hemodynamic compromise was common in this cohort. Our study highlights that care must be taken in counseling before 24 weeks, as the absence of factors associated with poor outcome early in pregnancy may be falsely reassuring.

Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era: A Multicenter Study.

BACKGROUND: Ebstein anomaly and tricuspid valve dysplasia are rare congenital tricuspid valve malformations associated with high perinatal mortality. The literature consists of small, single-center case series spanning several decades. We performed a multicenter study to assess the outcomes and factors associated with mortality after fetal diagnosis in the current era. METHODS AND RESULTS: Fetuses diagnosed with Ebstein anomaly and tricuspid valve dysplasia from 2005 to 2011 were included from 23 centers. The primary outcome was perinatal mortality, defined as fetal demise or death before neonatal discharge. Of 243 fetuses diagnosed at a mean gestational age of 27±6 weeks, there were 11 lost to follow-up (5%), 15 terminations (6%), and 41 demises (17%). In the live-born cohort of 176 live-born patients, 56 (32%) died before discharge, yielding an overall perinatal mortality of 45%. Independent predictors of mortality at the time of diagnosis were gestational age <32 weeks (odds ratio, 8.6; 95% confidence interval, 3.5-21.0; P<0.001), tricuspid valve annulus diameter z-score (odds ratio, 1.3; 95% confidence interval, 1.1-1.5; P<0.001), pulmonary regurgitation (odds ratio, 2.9; 95% confidence interval, 1.4-6.2; P<0.001), and a pericardial effusion (odds ratio, 2.5; 95% confidence interval, 1.1-6.0; P=0.04). Nonsurvivors were more likely to have pulmonary regurgitation at any gestational age (61% versus 34%; P<0.001), and lower gestational age and weight at birth (35 versus 37 weeks; 2.5 versus 3.0 kg; both P<0.001). CONCLUSION: In this large, contemporary series of fetuses with Ebstein anomaly and tricuspid valve dysplasia, perinatal mortality remained high. Fetuses with pulmonary regurgitation, indicating circular shunt physiology, are a high-risk cohort and may benefit from more innovative therapeutic approaches to improve survival.

Hypoplastic left heart syndrome secondary to intrauterine rhabdomyoma necessitating single ventricle palliation.

Rhabdomyoma, a benign hamartomatous tumor of the cardiac embryonic myocyte, is the most common intrauterine cardiac tumor and accounts for 0.12% of prenatal fetal studies. Fetal cardiac rhabdomyomas increase in size during second and early third trimester and spontaneously regress postnatally. The clinical presentation is usually benign, however, compromise of the ventricular outflow tract leading to decreased cardiac output and fetal death have been reported. We present a case of large cardiac rhabdomyoma in a fetus that might have caused complete left ventricular outflow tract obstruction and development of hypoplastic left heart syndrome (HLHS) necessitating postnatal single ventricle palliation therapy. The clinical course and outcomes of prenatally diagnosed cardiac rhabdomyoma are reviewed and theories of the development of hypoplastic left heart syndrome are explored.

Device closure of a pseudoaneurysm of the right ventricular outflow tract in an infant with right ventricle-to-pulmonary artery homograft.

Pseudoaneurysm of the right ventricular outflow tract (RVOT) is a rare complication following surgical repair of congenital heart disease involving a homograft or conduit. Traditionally, surgical intervention is indicated due to risk for rupture, thrombosis, compression of adjacent structures, and infection. We describe a case of a RVOT pseudoaneurysm in a 5 kg patient that was palliated with interventional catheterization utilizing an Amplatzer Ductal Occluder with four years follow-up. Interventional catheterization can successfully manage this complication in small patients for the long-term and thus avoids additional surgery and delays conduit replacement.

Model of magnetically guided fetal cardiac intervention: potential to avoid direct cardiac puncture.

OBJECTIVE: Fetal cardiac interventions are performed via direct cardiac puncture and are associated with significant fetal morbidity. The feasibility of utilizing magnetic navigation to maneuver a guide wire and balloon across a fetal aortic valve without direct cardiac puncture is tested. METHODS: A fetal heart model was manufactured and placed in a catheterization laboratory equipped with magnetic navigation. Magnetically steerable guide wires along with commercially available coronary balloons were inserted into the model at a site mimicking a hepatic vein. RESULTS: Passage of the wire and balloon was achieved on every attempt. The model was suitable for testing although the structural characteristics of the model made wire passage from the right to the left atrium the most challenging aspect. Once the wire was positioned in the left ventricle, it was easily maneuvered 180 degrees towards the left ventricular outflow tract and then the descending aorta. Advancement of a coronary balloon over this wire was uncomplicated. CONCLUSION: In a fetal heart model, it is feasible to deliver a wire and balloon from abdominal venous access antegrade across the aortic valve. Progression to fetal lamb models is planned and may advance fetal cardiac interventions by reduction of fetal morbidity.

Right atrial hemangioma in the newborn: Utility of fetal imaging.

We present a rare primary right atrial tumor diagnosed in-utero with fetal echocardiography, and further characterized as a congenital hemangioma with magnetic resonance imaging. Surgical resection was done six days after birth. This case illustrates the complementary roles of evolving advanced imaging techniques for fetuses and infants with congenital heart disease that allows for surgery early in the neonatal period.

Hypertrophic cardiomyopathy in a neonate associated with nemaline myopathy.

Nemaline myopathy is a congenital nonprogressive skeletal muscle disorder with a characteristic rod body formation in the skeletal muscle fibers. Cardiac involvement in nemaline myopathy is rare, although both dilated and hypertrophic cardiomyopathy have been reported. We describe an infant diagnosed with hypertrophic cardiomyopathy and hypotonia on the first day of life. Muscle biopsy confirmed nemaline myopathy at 3 weeks of age. The diagnosis of nemaline myopathy precluded consideration of heart transplantation, thus shifting the focus to comfort care. This is the earliest presentation of hypertrophic cardiomyopathy reported in the literature in the setting of nemaline myopathy. The approach to determining an etiology for hypertrophic cardiomyopathy in an infant is reviewed.

Intracardiac shunting and stroke in children: a systematic review.

In adults, patent foramen ovale or other potential intracardiac shunts are established risk factors for stroke via paradoxical embolization. Stroke is less common in children and risk factors differ. The authors examined the literature on intracardiac shunting and stroke in children, identifying the methods employed, the prevalence of detectible intracardiac shunts, associated conditions, and treatments. PubMed searches with keywords related to intracardiac shunting and stroke in children identified articles of interest. Additional articles were identified via citations in these articles or in reviews. The authors found that studies of intracardiac shunting in children with stroke are limited. No controlled studies were identified. Detection methods vary and the prevalence of echocardiographically detectible intracardiac shunting appears lower than reported in adults and autopsy studies. Defining the role of intracardiac shunting in pediatric stroke will require controlled studies with unified detection methods in populations stratified by additional risk factors for paradoxical embolization. Optimal treatment is unclear.

Diagnosing a patent foramen ovale in children: is transesophageal echocardiography necessary?

BACKGROUND AND PURPOSE: transesophageal echocardiography (TEE) is the gold standard for the diagnosis of a patent foramen ovale in adults. In children, acoustic windows on transthoracic echocardiography (TTE) are better than in adults; thus, an invasive TEE may not be necessary. Our goal was to assess the validity of TTE with agitated saline injection for the diagnosis of a patent foramen ovale in children using TEE as the gold standard. METHODS: fifty consecutive pediatric patients >1 year of age referred for TEE were prospectively enrolled. Imaging included 2-dimensional, color Doppler, and agitated saline contrast injections with and without Valsalva by TTE followed by TEE. Interpreters of the TTE were blinded to TEE results. Studies were categorized as "inconclusive" if the TTE images were inadequate for definitive diagnosis by the blinded interpreter. RESULTS: TTE results were considered conclusive in 43 of 50 (86%) patients. Among the 43 conclusive studies, the 2 modalities disagreed in 1 patient. TTE had a positive predictive value of 100%, negative predictive value 97%, sensitivity of 88%, and specificity of 100% for detecting a patent foramen ovale. CONCLUSIONS: TTE with agitated saline injection is diagnostic for the assessment of atrial septal integrity in the majority of children.

Oxygen supplementation is helpful for the echocardiographic detection of anomalous left coronary artery from the pulmonary artery.

BACKGROUND: The echocardiographic diagnosis of anomalous left coronary artery from the pulmonary artery (ALCAPA) can be challenging. The aim of this study was to assess the hypothesis that diagnosis can be enhanced by using supplemental oxygen, which decreases pulmonary vascular resistance and increases retrograde flow from the coronary artery into the pulmonary artery. METHODS: Demographic, echocardiographic, and cardiac catheterization data were reviewed in patients presenting with ALCAPA from 1999 to 2007. RESULTS: Twenty-one patients (seven male; median age, 5 months) presented with ALCAPA. Nine underwent imaging with oxygen. Two of these nine (22%) had previous standard echocardiographic studies that missed the diagnosis. Cardiac catheterization was required for diagnosis of ALCAPA in 42% of patients who underwent standard echocardiography compared with 11% of patients who received supplemental oxygen in addition to standard echocardiography. The administration of oxygen caused no significant change in heart rate or cardiorespiratory support. CONCLUSION: Transient oxygen administration is useful in the noninvasive diagnosis of ALCAPA.

Mitral valve morphology and morbidity/mortality in Shone's complex.

Early echocardiographic studies of 50 patients with Shone's complex were retrospectively examined to identify left-sided cardiac features associated with progressive mitral valve (MV) disease requiring intervention, as well as mortality. Thickened MV leaflets, shortened MV chordae coupled with either thickened MV leaflets or turbulence at or below the MV noted by color Doppler, left ventricular outflow tract obstruction without coarctation of the aorta, and mild or moderate aortic insufficiency were associated with a poor prognosis.

Myocardial performance index with sevoflurane-pancuronium versus fentanyl-midazolam-pancuronium in infants with a functional single ventricle.

BACKGROUND: Patients with congenital heart disease characterized by a functional single ventricle make up an increasing number of patients presenting for cardiac or noncardiac surgery. Conventional echocardiographic methods to measure left ventricular function, i.e., ejection fraction, are invalid in these patients because of altered ventricular geometry. Two recently described Doppler echocardiographic modalities, the myocardial performance index and Doppler tissue imaging, can be applied to single-ventricle patients because they are independent of ventricular geometry. This study assessed the changes in myocardial performance index and Doppler tissue imaging in response to two anesthetic regimens, fentanyl-midazolam-pancuronium and sevoflurane-pancuronium. METHODS: Thirty patients aged 4-12 months with a functional single ventricle were randomized to receive fentanyl-midazolam or sevoflurane. Myocardial performance index and Doppler tissue imaging were measured by transthoracic echocardiography at baseline and two clinically relevant dose levels. RESULTS: Sixteen patients receiving sevoflurane and 14 receiving fentanyl-midazolam were studied. Myocardial performance index was unchanged from baseline with either agent (fentanyl-midazolam: 0.50 +/- 15 baseline vs. 0.51 +/- 0.15 at dose 2; sevoflurane: 0.42 +/- 0.14 baseline vs. 0.46 +/- 0.09 at dose 2). Doppler tissue imaging S (systolic)- and E (early diastolic)-wave velocities in the lateral ventricular walls at the level of the atrioventricular valve annulus were unchanged in the sevoflurane group; however, both Doppler tissue imaging S- and E-wave velocities were decreased significantly from baseline at dose 1 and dose 2 with fentanyl-midazolam, consistent with decreased longitudinal systolic and diastolic ventricular function. CONCLUSIONS: Myocardial performance index, a global measurement of combined systolic and diastolic ventricular function, is not affected by commonly used doses of fentanyl-midazolam or sevoflurane in infants with a functional single ventricle.