Catherine Ikemba

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.

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.

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.

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

Abstract 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.

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.

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.

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.

PERINATAL OUTCOMES AFTER FETAL DIAGNOSIS OF EBSTEIN ANOMALY OR TRICUSPID VALVE DYSPLASIA IN THE CURRENT ERA: A MULTI-CENTER STUDY

Ebstein anomaly and tricuspid valve dysplasia (EA/TVD) are rare congenital tricuspid valve malformations associated with high perinatal mortality. The literature to date consists of small, single center case series often spanning several decades. We performed a multi-center study to assess perinatal

Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era

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.