Lindsay R. Freud

Fetal aortic valvuloplasty for evolving hypoplastic left heart syndrome: postnatal outcomes of the first 100 patients.

Background— Fetal aortic valvuloplasty can be performed for severe midgestation aortic stenosis in an attempt to prevent progression to hypoplastic left heart syndrome (HLHS). A subset of patients has achieved a biventricular (BV) circulation after fetal aortic valvuloplasty. The postnatal outcomes and survival of the BV patients, in comparison with those managed as HLHS, have not been reported. Methods and Results— We included 100 patients who underwent fetal aortic valvuloplasty for severe midgestation aortic stenosis with evolving HLHS from March 2000 to January 2013. Patients were categorized based on postnatal management as BV or HLHS. Clinical records were reviewed. Eighty-eight fetuses were live-born, and 38 had a BV circulation (31 from birth, 7 converted after initial univentricular palliation). Left-sided structures, namely aortic and mitral valve sizes and left ventricular volume, were significantly larger in the BV group at the time of birth ( P <0.01). After a median follow-up of 5.4 years, freedom from cardiac death among all BV patients was 96±4% at 5 years and 84±12% at 10 years, which was better than HLHS patients (log-rank P =0.04). There was no cardiac mortality in patients with a BV circulation from birth. All but 1 of the BV patients required postnatal intervention; 42% underwent aortic or mitral valve replacement. On the most recent echocardiogram, the median left ventricular end-diastolic volume z score was +1.7 (range, −1.3 to +8.2), and 80% had normal ejection fraction. Conclusions— Short- and intermediate-term survival among patients who underwent fetal aortic valvuloplasty and achieved a BV circulation postnatally is encouraging. However, morbidity still exists, and ongoing assessment is warranted. # CLINICAL PERSPECTIVE {#article-title-39}Background— Fetal aortic valvuloplasty can be performed for severe midgestation aortic stenosis in an attempt to prevent progression to hypoplastic left heart syndrome (HLHS). A subset of patients has achieved a biventricular (BV) circulation after fetal aortic valvuloplasty. The postnatal outcomes and survival of the BV patients, in comparison with those managed as HLHS, have not been reported. Methods and Results— We included 100 patients who underwent fetal aortic valvuloplasty for severe midgestation aortic stenosis with evolving HLHS from March 2000 to January 2013. Patients were categorized based on postnatal management as BV or HLHS. Clinical records were reviewed. Eighty-eight fetuses were live-born, and 38 had a BV circulation (31 from birth, 7 converted after initial univentricular palliation). Left-sided structures, namely aortic and mitral valve sizes and left ventricular volume, were significantly larger in the BV group at the time of birth (P<0.01). After a median follow-up of 5.4 years, freedom from cardiac death among all BV patients was 96±4% at 5 years and 84±12% at 10 years, which was better than HLHS patients (log-rank P=0.04). There was no cardiac mortality in patients with a BV circulation from birth. All but 1 of the BV patients required postnatal intervention; 42% underwent aortic or mitral valve replacement. On the most recent echocardiogram, the median left ventricular end-diastolic volume z score was +1.7 (range, −1.3 to +8.2), and 80% had normal ejection fraction. Conclusions— Short- and intermediate-term survival among patients who underwent fetal aortic valvuloplasty and achieved a BV circulation postnatally is encouraging. However, morbidity still exists, and ongoing assessment is warranted.

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.

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

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.

Fetal interventions for congenital heart disease.

Purpose of review This article discusses the rationale, patient selection, technical aspects, and outcomes of percutaneous, ultrasound-guided fetal cardiac intervention (FCI) for structural congenital heart disease. Recent findings FCI is most commonly performed for three forms of congenital heart disease: severe aortic stenosis with evolving hypoplastic left heart syndrome (HLHS), pulmonary atresia with intact ventricular septum and evolving hypoplastic right heart syndrome, and HLHS with intact or highly restrictive atrial septum. For severe aortic stenosis and pulmonary atresia with intact ventricular septum, the goal of intervention is to alter the natural history such that a biventricular circulation may be achieved postnatally. A growing number of patients have achieved a biventricular circulation; however, patient selection and postnatal management strategy are essential for success. HLHS with intact or highly restrictive atrial septum is one of the most lethal forms of congenital heart disease, and the goal of FCI is to improve survival. Although the creation of an atrial communication in utero is technically feasible and may permit greater stability in the immediate postnatal period, significant improvements in survival have not yet been reported. Summary FCI is an evolving form of treatment for congenital heart disease that holds promise for select patients. Critical evaluation of both short and long-term outcomes is warranted.

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

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.

Assessment of the Melody valve in the mitral position in young children by echocardiography

Objectives: Mitral valve replacement (MVR) in young children is limited by the lack of small prostheses. Our institution began performing MVR with modified, surgically placed, stented jugular vein grafts (Melody valve) in 2010. We sought to describe key echocardiographic features for pre‐ and postoperative assessment of this novel form of MVR. Methods: The pre‐ and postoperative echocardiograms of 24 patients who underwent Melody MVR were reviewed. In addition to standard measurements, preoperative potential measurements of the mitral annulus were performed whereby dimensions were estimated for Melody sizing. A ratio of the narrowest subaortic region in systole to the actual mitral valve dimension (SubA:MV) was assessed for risk of postoperative left ventricular outflow tract obstruction (LVOTO). Results: Melody MVR was performed at a median of 8.5 months (5.6 kg) for stenosis (5), regurgitation (3), and mixed disease (16). Preoperatively, actual mitral z scores measured hypoplastic (median −3.1 for the lateral [lat] dimension; −2.1 for the anteroposterior [AP] dimension). The potential measurements often had normal z scores with fair correlation with intraoperative Melody dilation (&rgr; = 0.51 and 0.50 for lat and AP dimensions, respectively, both P = .01). A preoperative SubA:MV <0.5 was associated with postoperative LVOTO, which occurred in 4 patients. Postoperatively, mitral gradients substantially improved, with low values relative to the effective orifice area of the Melody valve. No patients had significant regurgitation or perivalvar leak. Conclusions: Preoperative echocardiographic measurements may help guide intraoperative sizing for Melody MVR and identify patients at risk for postoperative LVOTO. Acute postoperative hemodynamic results were favorable; however, ongoing assessment is warranted.

Improved Technical Success, Postnatal Outcomes and Refined Predictors of Outcome for Fetal Aortic Valvuloplasty

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.

Neurodevelopmental Outcome in Children after Fetal Cardiac Intervention for Aortic Stenosis with Evolving Hypoplastic Left Heart Syndrome

Objective To characterize neurodevelopmental outcomes after fetal aortic valvuloplasty for evolving hypoplastic left heart syndrome and determine the risk factors for adverse neurodevelopment. Study design Questionnaires were mailed to families of children who underwent fetal aortic valvuloplasty from 2000 to 2012, and medical records were reviewed retrospectively. The primary outcome was the General Adaptive Composite score of the Adaptive Behavior Assessment System Questionnaire‐Second Edition. Other questionnaires included the Behavior Assessment System for Children, Behavior Rating Inventory of Executive Function, Ages and Stages, and Pediatric Quality of Life Inventory. Results Among 69 eligible subjects, 52 (75%) completed questionnaires at median age of 5.5 (range 1.3‐12) years; 30 (58%) had biventricular status circulation. The General Adaptive Composite mean score (92 ± 17) was lower than population norms (P < .001) and similar to published reports in patients with hypoplastic left heart syndrome without fetal intervention; scores in the single ventricular versus biventricular group were 97 ± 19 vs 89 ± 14, respectively (P = .10). On multivariable analysis, independent predictors of a lower General Adaptive Composite score were total hospital duration of stay in the first year of life (P = .001) and, when forced into the model, biventricular status (P = .02). For all other neurodevelopmental questionnaires (Behavior Assessment System for Children, Behavior Rating Inventory of Executive Function, Ages and Stages, Pediatric Quality of Life Inventory), most subscale scores for patients with biventricular and single ventricular status were similar. Conclusion Children who underwent fetal aortic valvuloplasty have neurodevelopmental delay, similar to patients with hypoplastic left heart syndrome without fetal intervention. Achievement of biventricular circulation was not associated with better outcomes. We infer that innate patient factors and morbidity during infancy have the greatest effect on neurodevelopmental outcomes.

Fetal interventions for structural heart disease

Fetal cardiac intervention (FCI) offers the potential to alter in utero anatomy and physiology. For aortic stenosis with evolving hypoplastic left heart syndrome and pulmonary atresia with intact ventricular septum with evolving hypoplastic right heart syndrome, FCI may result in maintenance of a biventricular circulation, thus avoiding single‐ventricle palliation and its attendant complications. In the case of hypoplastic left heart syndrome with intact atrial septum, FCI may ameliorate in utero pathophysiology and portend a more favorable postnatal prognosis. In all cases, a detailed fetal echocardiographic assessment to identify the appropriate FCI candidate is essential. This article reviews the three aforementioned lesions for which FCI can be considered. The pathophysiology and rationale for intervention, echocardiographic assessment, patient selection criteria, and outcomes for each lesion will be reviewed. A primary focus will be the echocardiographic evaluation of each lesion.

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