Functional Pulmonary Atresia Research Articles

The American Association for Thoracic Surgery (AATS) 2024 expert consensus document: Management of neonates and infants with Ebstein anomaly

ObjectivesSymptomatic neonates and infants with Ebstein anomaly (EA) require complex management. A group of experts was commissioned by the American Association for Thoracic Surgery to provide a framework on this topic focusing on risk stratification and management. MethodsThe EA Clinical Congenital Practice Standards Committee is a multinational and multidisciplinary group of surgeons and cardiologists with expertise in EA. A citation search in PubMed, Embase, Scopus, and Web of Science was performed using key words related to EA. The search was restricted to the English language and the year 2000 or later and yielded 455 results, of which 71 were related to neonates and infants. Expert consensus statements with class of recommendation and level of evidence were developed using a modified Delphi method, requiring 80% of members votes with at least 75% agreement on each statement. ResultsWhen evaluating fetuses with EA, those with severe cardiomegaly, retrograde or bidirectional shunt at the ductal level, pulmonary valve atresia, circular shunt, left ventricular dysfunction, or fetal hydrops should be considered high risk for intrauterine demise and postnatal morbidity and mortality. Neonates with EA and severe cardiomegaly, prematurity (<32 weeks), intrauterine growth restriction, pulmonary valve atresia, circular shunt, left ventricular dysfunction, or cardiogenic shock should be considered high risk for morbidity and mortality. Hemodynamically unstable neonates with a circular shunt should have emergent interruption of the circular shunt. Neonates in refractory cardiogenic shock may be palliated with the Starnes procedure. Children may be assessed for later biventricular repair after the Starnes procedure. Neonates without high-risk features of EA may be monitored for spontaneous closure of the patent ductus arteriosus (PDA). Hemodynamically stable neonates with significant pulmonary regurgitation at risk for circular shunt with normal right ventricular systolic pressure should have an attempt at medical closure of the PDA. A medical trial of PDA closure in neonates with functional pulmonary atresia and normal right ventricular systolic pressure (>20-25 mm Hg) should be performed. Neonates who are hemodynamically stable without pulmonary regurgitation but inadequate antegrade pulmonary blood flow may be considered for a PDA stent or systemic to pulmonary artery shunt. ConclusionsRisk stratification is essential in neonates and infants with EA. Palliative comfort care may be reasonable in neonates with associated risk factors that may include prematurity, genetic syndromes, other major medical comorbidities, ventricular dysfunction, or sepsis. Neonates who are unstable with a circular shunt should have emergent interruption of the circular shunt. Neonates who are unstable are most commonly palliated with the Starnes procedure. Neonates who are stable should undergo ductal closure. Neonates who are stable with inadequate pulmonary flow may have ductal stenting or a systemic-to-pulmonary artery shunt. Subsequent procedures after Starnes palliation include either single-ventricle palliation or biventricular repair strategies.

Right ventricular outflow tract obstruction in twin-to-twin transfusion syndrome undergoing laser surgery: A systematic review and meta-analysis.

We aimed to investigate the incidence, prenatal factors and outcomes of twin-to-twin transfusion (TTTS) with right ventricular outflow tract obstruction (RVOTO). A systematic search was conducted to identify relevant studies published until February 2023 in English using the databases PubMed, Scopus and Web of Science. Studies reporting on pregnancies with TTTS and RVOTO were included. The random-effect model pooled the mean differences or odds ratios (OR) and the corresponding 95% confidence intervals. Heterogeneity was assessed using the I2 value. A total of 17 studies encompassing 4332 TTTS pregnancies, of which 225 cases had RVOTO, were included. Incidence of RVOTO at time of TTTS diagnosis was 6%. In all, 134/197 (68%) had functional pulmonary stenosis and 62/197 (32%) had functional pulmonary atresia. Of these, 27% resolved following laser and 55% persisted after birth. Of those persisting, 27% required cardiac valve procedures. Prenatal associations were TTTS stage III (53% vs 39% in no-RVOTO), stage IV TTTS (28% in RVOTO vs 12% in no-RVOTO) and ductus venosus reversed a-wave (60% in RVOTO vs 19% in no-RVOTO). Gestational age at laser and gestational age at delivery were comparable between groups. Survival outcomes were also comparable between groups, including fetal demise of 26%, neonatal death of 12% and 6-month survival of 82% in RVOTO group. Findings were similar when subgroup analysis was done for studies including head-to-head analysis. RVOT occurs in about 6% of the recipient twins with TTTS, especially in stages III and IV and those with reversed ductus venosus a-wave. The findings from this systematic review support the need for a thorough cardiac assessment of pregnancies complicated by TTTS, both before and after laser, to maximize perinatal outcome, and the importance of early diagnosis of TTTS and timely management.

Different expressions of cardiac biomarkers between different types of acquired right ventricular outflow tract abnormality in monochorionic twins.

To investigate the differences in amniotic fluid cardiac biomarkers and clinical features among types of right ventricular outflow tract (RVOT) abnormality in monochorionic (MC) twins. This prospective study included MC twins that underwent laser surgery. Recipient or larger twins (group A) and donor or smaller twins (group B) were assessed and divided into those with a normal right ventricular outflow tract (normal RVOT), functional pulmonary atresia (fPA), or pulmonary stenosis (PS). Amniotic fluid levels of NT-proBNP (afNT-proBNP) and cardiac troponin T (afTnT) were examined during surgery. Of 190 fetuses in group A, there were 14 RVOT abnormality cases (including 7 fPA and 7 PS). No group B fetuses showed RVOT abnormality findings. In group A, later and earlier gestational age at surgery were observed in fPA (25.1±2.8weeks) and PS groups (17.8±0.9weeks). All survived PS cases demonstrated progressive pulmonary valve obstruction, not observed in fPA groups. AfNT-proBNP were significantly higher in fPA and PS than in the normal RVOT group (p<0.05). AfTnT was significantly higher in group A with PS than fPA and normal RVOT groups (p<0.05). Among RVOT abnormality types in group A, amniotic fluid cardiac biomarkers were differently expressed, and clinical features were also differentiated. These findings provide insight into the pathophysiological influence on RVOT in MC twins. This study was registered with the Japanese Clinical Trial Registry "UMIN-CTR" (http://www.umin.ac.jp/ctr/index-j.htm; trial ID numbers UMIN000024486 and 000037702).

Clinical features and echocardiographic findings of isolated foramen ovale restriction in foetuses

Isolated restrictive foramen ovale (rFO) without complex heart defects is a rare pathology. There may be difficulties in managing this situation, which can lead to right heart enlargement, tricuspid regurgitation and hydrops findings in the foetus. We conducted a retrospective analysis of 8451 foetuses. 7883 (93.2%) had a structurally normal heart or minor heart disease, 18 (0.22%) of which had a diagnosis of isolated rFO. Nine patients with neonatal echocardiographic examination were included in the study. In 8 (88.8%) patients, it was stated that a decision to give birth should be made at the time of presentation. Evaluating postpartum echocardiographic examinations, 7 (77.7%) patients had normal or minor defects. The decision of delivery made at the right time during follow-up is critical to determine the prognosis. IMPACT STATEMENT What is already known on this subject? The data about the prenatal diagnosis of isolated rFO is limited. What the results of this study add? We conducted a retrospective analysis of 8451 foetuses. 7883 (93.2%) foetuses had a structurally normal heart or minor heart disease, 18 (0.22%) of which had a diagnosis of rFO. Nıne patients with foetal and postnatal follow-up and echocardiographic findings were examined in the study. The group's median gestational age at admission was 35.0 weeks (range: 27.0–39.0 weeks). The delivery decision was made in 8 (88.8%) patients at the time of admission. Evaluating postpartum echocardiographic examinations, 7 (77.7%) patients had normal or minor defects. Additionally, one patient was diagnosed with cardiomyopathy, and the other patient was diagnosed with functional pulmonary atresia. No death occurred in any foetus during follow-up. What the implications are of these findings for clinical practice and/or further research? Isolated rFO, a rare condition in the foetus, is generally well-tolerated in foetal life. However, the right heart enlargement, tricuspid regurgitation, or hydrops findings can be seen in patients. The decision of delivery made at the right time during follow-up is critical to determine the prognosis.

Effects and side effects of maternal administration of indomethacin for fetal tricuspid valve dysplasia

We report on the course of two fetuses with tricuspid valve dysplasia (TVD) who were treated with indomethacin. Case 1 presented at 24 weeks' gestation with severe tricuspid regurgitation (TR), retrograde flow in the arterial duct, no antegrade flow across the pulmonary valve and free pulmonary regurgitation (PR). There was cardiomegaly and fetal hydrops with ascites, skin edema and pleural effusion. The Simpson–Andrews–Sharland (SAS) prenatal severity score for TVD was 7, which predicted fetal demise. The SAS score ranges from 0 to 10, with no predicted survivors scoring ≥ 51. Case 2 presented at 16 weeks' gestation with moderate TR, antegrade flow across the pulmonary valve, progressing to functional pulmonary atresia by 21 weeks' gestation, and a SAS score of 4. At 33 + 5 weeks, there was evidence of further progression with increasing cardiomegaly (cardiothoracic ratio (CTR): 0.80), severe TR and PR and a SAS score of 8. Estimated fetal weight (EFW) dropped from 17th to 3rd centile, umbilical artery (UA) pulsatility index was > 95th centile and amniotic fluid index (AFI) was normal (8.9 cm). Maternal indomethacin (100 mg three times a day (TDS)) was commenced in both cases (Figure 1), leading to constriction/closure of the arterial duct, reduction in PR and antegrade flow across the pulmonary valve. In Case 1, by 26 weeks' gestation, fetal hydrops had completely resolved, indomethacin was replaced by ibuprofen (200 mg TDS) due to a more favorable side-effect profile. However, the arterial duct reopened and indomethacin was reintroduced. Following this, the arterial duct constricted, but oligohydramnios developed (AFI: 4.4 cm). At 30 weeks' gestation, there was faltering growth, EFW of 1.2 kg and anhydramnios. Indomethacin was stopped and the AFI normalized (17.1 cm), but cardiomegaly persisted with severe TR. Intrauterine death occurred at 31 + 6 weeks' gestation. In Case 2, following commencement of indomethacin, CTR reduced to 0.65 but oligohydramnios worsened (AFI: 4.2 cm). Indomethacin was stopped and AFI normalized. Indomethacin was restarted at a lower dose (50 mg TDS), but despite failure to constrict the arterial duct, oligohydramnios recurred (AFI: 1.5 cm) and therapy was ceased. The baby was delivered at 36 weeks' gestation due to absent end-diastolic UA flow, weighing 1.4 kg, and was stable without intervention at 1 year of age. Prenatally detected cases of TVD are often those at the most severe end of the spectrum, presenting with cardiomegaly secondary to severe TR1. Cardiomegaly leads to compression of the developing lung tissue, pulmonary hypoplasia and increased risk of postnatal demise. The fetal environment is disadvantageous for the fetus with TVD as the right ventricle (RV) faces systemic pressures and high pulmonary vascular resistance, worsening TR and subsequent right atrial dilatation, which in itself will exacerbate TR. Severe TR causes reduced antegrade flow across the pulmonary valve and reversal of flow in the arterial duct. This ‘steal’ from the systemic arterial circulation inhibits antegrade pulmonary blood flow and causes PR, which results in further volume loading of the RV. Furthermore, RV dilatation has an adverse effect on left ventricular geometry and function, causing additional fetal hemodynamic compromise2, explaining the high perinatal mortality of 45–71%3. Whilst there have been apparently favorable reports of indomethacin for a circular shunt in TVD2, 4, this treatment led to anhydramnios/oligohydramnios in both our cases. This may be due to pre-existing renal hypoperfusion secondary to poor ventricular-ventricular interaction and ductal steal. Furthermore, through its action on prostaglandins, indomethacin can lead to renal vasoconstriction and may cause oligohydramnios5. The potential benefits of ductal constriction for circular shunts need to be balanced against the risk of renal perfusion, necessitating close cardiac and fetal medicine supervision for affected fetuses. A prospective trial is needed to evaluate the risk-benefit ratio of this new treatment for fetal TVD. We acknowledge the contribution of Dr Wayne Tworetzky from the Children's Hospital in Boston, USA, whose group published the rationale for indomethacin therapy in this group of fetuses. Dr Tworetzky advised on the indomethacin and ibuprofen treatment used in the first case. Data available on request due to privacy/ethical restrictions

Management of “Wall to Wall Heart” in a Transient Neonatal Tricuspid Regurgitation

We present a case of a one-day-old newborn, without prenatal diagnosis, referred to our cardiologic intensive care unit in critical condition presenting sub-cyanosis and peripheral oxygen saturation of 80%. Echocardiography diagnosis was tricuspid valve dysplasia with severe regurgitation, functional pulmonary valve atresia with intact ventricular septum and reversal flow in the large patent ductus arteriosus (PDA). Chest X-ray showed severe cardiomegaly and wall to wall heart. Prostaglandin E1 infusion was started once after birth. After few days, clinical conditions progressively worsened because of right heart failure; a first pharmacological approach to close PDA failed and surgery ligation of PDA was necessary to restore anterograde pulmonary flow and heart size.

Prenatal progressive cardiomegaly and functional pulmonary atresia on one fetus of monochorionic diamniotic twin pregnancy regardless of spontaneous resolution of isolated polyhydramnios

Prenatal progressive cardiomegaly and functional pulmonary atresia on one fetus of monochorionic diamniotic twin pregnancy regardless of spontaneous resolution of isolated polyhydramnios

Acquired right ventricular outflow tract obstruction in twin-to-twin transfusion syndrome; a prospective longitudinal study.

The pathophysiology of right ventricular outflow tract obstruction (RVOTO) in twin-to-twin transfusion syndrome (TTTS) recipients is incompletely understood. We aimed to investigate the development and spectrum of RVOTO in TTTS recipients. A prospective longitudinal cohort study was conducted between 2015 and 2017. Echocardiographic assessment was performed in recipients from TTTS diagnosis until the neonatal period. Prenatal RVOTO, defined as abnormal flow velocity waveforms across the pulmonary valve (PV), was diagnosed in 12.9% (16/124) of recipients at TTTS diagnosis. Postnatal RVOTO was found in 6.7% (7/105) of surviving recipients. All recipients with severe postnatal RVOTO showed prenatal RVOTO at TTTS diagnosis. In 5.6% (6/108) of cases, prenatal RVOTO appeared only after laser therapy, and in 1.9% (2/108), this progressed to mild postnatal pulmonary stenosis. Elevated peak systolic PV velocities were more frequently associated with postnatal RVOTO compared with prenatal finding of functional pulmonary atresia. Postnatal RVOTO was associated with early manifestation of TTTS but was equally found in all Quintero stages. In the spectrum of postnatal RVOTO, severe cases show prenatal RVOTO at TTTS diagnosis. However, RVOTO can develop after laser or even in the neonatal period and in all Quintero stages. A potential risk factor for postnatal RVOTO is early TTTS manifestation.

EP04.40: Case report of Ebstein's anomaly which dynamic slow‐motion display was useful for a diagnosis of the functional pulmonary atresia

A 23-year-old woman was referred for fetal echocardiography at 19 weeks' gestation because of suspected cardiomegaly. Fetal echocardiography demonstrated a cardiomegaly (cardiothoracic area ratio was 45%) and severe tricuspid valve insufficiency in the 4 chambers. We diagnosed Ebstein's anomaly. The pulmonary artery flow was observed in an anterograde direction. At 32 weeks' gestation, fetal echocardiography showed severe cardiomegaly (cardiothoracic area ratio was 55%) and the pulmonary artery flow was observed in a retrograde direction. On more careful investigation of using the dynamic slow-motion display, a little regurgitation flow to a pulmonary valve in end systole could be visualised. Therefore, we diagnosed functional pulmonary atresia. Because the dynamic slow-motion display can depict an image by slow motion without deteriorating, it is useful for a diagnosis of the functional pulmonary atresia.

EP04.16: Perinatal outcome in fetuses with heterotaxy syndrome

To estimate the perinatal outcome in relation to the prognosis of fetuses with heterotaxy syndrome. All fetuses diagnosed as having heterotaxy syndrome and managed at our hospital between 2009 and 2016 were evaluated in this study. Cases delivered at other hospital were excluded. We compared clinical characteristics such as preterm delivery, delivery mode, cardiac defects, complete atrioventricular block, and extracardiac anomalies between the infants who survived and those who did not survive the first year of life. During the study period, 26 fetuses with heterotaxy syndrome were managed, of whom 24 were delivered at our hospital. No intrauterine fetal death occurred. Among the 24 live-born babies, the 1-month, 1-year, and 3-year survival rates were 88%, 61%, and 40%, respectively, in a median follow-up period of 57 months (8–88 months). Of the infants, 9 (38%) were premature and 6 (25%) were born by Caesarean delivery. Cardiac defects were diagnosed in all the fetuses, with a predominance of a single functional ventricle total anomalous pulmonary venous return, pulmonary stenosis, pulmonary atresia, and complete atrioventricular block in 12 (50%), 10 (42%), 9 (38%), 6 (25%), and 3 infants (13%), respectively. Furthermore, 5 infants (21%) had extracardiac anomalies. 9 infants did not survive the first year of life, with infection being the leading cause of death. Recurrent infections led to the cause of death in the neonatal period or infancy in 5 babies. Among the 5 babies, 4 had right isomerism with asplenia. Asplenia and polysplenia were both associated with postnatal death at 1 year (P = 0.008 and 0.035, respectively). The prognosis of patients with heterotaxy syndrome is still poor. The status of the spleen could be a predictor of survival at 1 year of life.

Neonatal Ebstein Anomaly

Ebstein’s anomaly is a rare congenital heart defect that results from varying degrees of failure of delamination of the tricuspid valve leaflets from the endocardium of the right ventricle. This results in apical displacement, particularly of the septal and posterior leaflets of the tricuspid valve. The anterior leaflet is typically broad and sail-like and is based at the true annulus. The right ventricle is also myopathic, with a reduced functional portion as a result of atrialization. Age at presentation can vary from neonate to adulthood. Symptoms in the neonate result from a combination of tricuspid valve regurgitation, right ventricle dysfunction, inadequate left ventricular filling owing to ventricular septal bowing, inadequate pulmonary blood flow, and arrhythmias. Mortality rates for symptomatic neonates with Ebstein’s anomaly are extraordinarily high. Neonates with Great Ormond Street Echocardiogram (GOSE) scores greater than 1.5, or greater than 1.1 with associated cyanosis, have a mortality approaching 100%. In addition, neonates with severe cardiomegaly with a cardiothoracic ratio greater than 0.8, those with severe tricuspid valve regurgitation, and acyanotic neonates with a GOSE score greater than 1.0 associated with functional pulmonary atresia and a large atrial septal defect also have a dismal prognosis. Surgical approaches for the management of these critically ill neonates have varied across institutions and include the Starnes right ventricle exclusion procedure, systemic–pulmonary shunts, hybrid-type procedures, biventricular repair and heart transplantation. This chapter covers the anatomy, pathophysiology, associated malformations of neonatal Ebstein’s anomaly and provides an overview of management options for this serious congenital heart disease.

Rate and Outcomes of Pulmonary Stenosis and Functional Pulmonary Atresia in Recipient Twins with Twin-Twin Transfusion Syndrome

Objective: To evaluate the rate of pulmonary stenosis and functional pulmonary atresia (PS/PA) in recipient twins prior to fetal surgery for twin-twin transfusion syndrome (TTTS) and their pre- and postnatal outcomes. Methods: We carried out a prospective study including 260 cases of TTTS. Echocardiography was performed before laser surgery to detect the presence of PS/PA. The outcomes of recipients with and without PS/PA were compared. The need of postnatal cardiac interventions and the survival rate at 6 months of age were also evaluated. Results: PS was observed in 16/260 (6.2%) of recipient twins and PA in 12/260 (4.6%). After fetal surgery, 10/28 (35.7%) recipients died, 9/28 (32.1%) showed in utero regression, and 9/28 (32.1%) had persistence of PS/PA. Postnatally, seven recipients underwent percutaneous balloon pulmonary valvuloplasty, one required surgical valvotomy and one palliative surgery. Pregnancies with recipient twins with PS/PA had lower survival of at least one twin (67.9 vs. 83.6%, p = 0.045) and lower overall survival (57.1 vs. 72.8%, p = 0.015) at 6 months of age. Conclusion: PS and PA were observed in 10.8% of recipients. Among these, about one third showed persistence of pulmonary valve pathology after delivery, which stresses the need for strict follow-up.

Abstract 17047: Pathophysiologic Progression From the Second to Third Trimester in Fetuses With Ebstein's Anomaly or Tricuspid Valve Dysplasia: Are Early Echocardiographic Features Reliable Indicators of Late Gestation Status?

Background: Ebstein’s anomaly and tricuspid valve dysplasia (EA/TVD) are associated with high perinatal mortality. Poor hemodynamic status in both early and late gestation is associated with worse outcome. However, it is not known whether EA/TVD fetuses with more favorable physiology earlier in gestation progress to more severe disease in 3 rd trimester. The goal of this study was to evaluate whether initial echocardiographic indices in fetuses with EA/TVD presenting at gestational age (GA) &lt;24 wks are reliable indicators of physiologic status later in pregnancy. Methods: This multi-center, retrospective study included fetuses diagnosed with EA/TVD from 2005-11 at 23 centers. Patients with initial diagnosis at &lt;24 wks gestation and with ≥2 fetal echocardiograms ≥4 wks apart were included. A core laboratory analyzed the echocardiograms. Markers of poor outcome were defined as absence of antegrade flow across the pulmonary valve, pulmonary valve regurgitation (PR), cardiothoracic ratio &gt;0.48, left ventricular (LV) dysfunction or TV annulus Z score &gt;5.6. Results: The study included 51 fetuses. Median GA at diagnosis was 21 wks [18-24], and the median duration from 2 nd to 3 rd trimester echocardiograms was 12 wks [4-18]. There were 21 fetuses (41%) with &gt;2 markers of poor outcome at &lt;24 wks, which increased to 32 (63%) in later gestation (p=0.001). Nine of 27 fetuses (33%) with antegrade pulmonary blood flow on first echocardiogram developed anatomic or functional pulmonary atresia during follow-up, and 7 of 39 fetuses (18%) without PR initially developed it later. LV dysfunction was present in 2 patients at &lt;24 wks but present in 14 (37%) later (p&lt;0.01). The only variable associated with worsening physiology, from &lt;2 markers of poor outcome in 2 nd trimester to ≥2 markers in 3 rd trimester, was larger TV annulus Z-score (4.1±1.0 vs. 2.4±1.9, p=0.008). Conclusion: These results confirm a wide spectrum of disease presentation and progression in fetuses with EA/TVD. Thus, it is imperative to assess these fetuses serially. In this cohort, there were no early markers of progression other than larger TV annulus Z-score. Great care must be taken in counseling prior to 24 wks, as the absence of factors associated with poor outcome early in pregnancy may be falsely reassuring.

Demonstration of circular shunt in fetal Ebstein anomaly.

Ebstein's anomaly was diagnosed in a fetus at 24 weeks of gestation. There was significant cardiomegaly and severe tricuspid regurgitation (TR). There was functional pulmonary atresia with severe pulmonary regurgitation (PR) and this was causing a circular shunt. There was no fetal hydrops.

P09.08: Non‐compacted left myocardium in fetal Ebsteins anomaly, an uncommon association

Ventricular noncompactation is a rare primary disorder of the myocardium that has been rarely reported in combination with other cardiac defects. We report a case of noncompacted left myocardium associated with Ebsteins anomaly diagnosed in the third trimester of gestation. A 40-years-old woman with personal history of bipolar disorder was evaluated at 22 weeks of gestation. The echocardiography showed Ebsteins anomaly with a moderate degree of displacement of the tricuspid valve with no significant valve regurgitation and normal antegrade flow in the pulmonary artery. At 29 weeks of gestation follow-up, a diminished longitudinal motion by tissue Doppler of the left ventricle and a paradoxical septal motion by M-mode were found. A detailed study of the left ventricle allowed us to identify a wall thickening, especially of the apex, with prominent hypertrabeculations and color Doppler penetration into de myocardium. All these findings suggested a noncompactation of the left apical myocardium. The echocardiographic follow-up showed a progressive deterioration of the right ventricle function with significant tricuspid regurgitation and functional pulmonary atresia. A female infant weighting 3000 g was born by Caesarean section at 39 weeks. Postnatal cardiac evaluation confirmed the prenatal findings. The neonate had a correct evolution after ductal and foramen ovale closure, with no need of any surgical procedure and was discharged home at one month of life with medical treatment solely. Discussion: Left ventricle dysfunction for patients with Ebsteins anomaly has been related to paradoxical septum motion, mitral valve disease and, rarely, to noncompacted left myocardium. In our case, the detailed evaluation of the cardiac function in the third trimester was a useful tool to identify subtle changes in the left ventricle function which led us to the prenatal diagnosis of this rare association.

Fetal cardiac function in recipient twins undergoing fetoscopic laser ablation of placental anastomoses for Stage IV twin–twin transfusion syndrome

Cardiac dysfunction is common in the recipient fetus of twin-twin transfusion syndrome (TTTS). In this study, we aimed to document the severity of fetal cardiac dysfunction in Stage IV TTTS (fetal hydrops) and assess evolution of cardiac function longitudinally after fetoscopic laser surgery. We reviewed obstetric ultrasound examination data, pre- and postoperative echocardiograms and neonatal outcomes for 22 cases of Stage IV TTTS undergoing fetoscopic laser ablation of placental anastomoses between 1998 and 2011. Myocardial performance index, atrioventricular valve flow patterns, ventricular shortening fraction, ventricular hypertrophy, outflow tract obstruction and venous Doppler waveforms were assessed. Nineteen fetuses (86.4%) had ascites, eight (36.4%) had pleural effusions, nine (40.9%) had a pericardial effusion and 12 (54.5%) had subcutaneous edema at presentation. Preoperatively, cardiac function was grossly abnormal in all. Eight fetuses (36.4%) had functional pulmonary atresia and one (4.5%) had functional aortic atresia. Seventy-seven percent of recipient fetuses survived until birth. Postoperative echocardiographic follow-up (mean, 26 days) showed that indices of fetal cardiac function improved considerably, but never completely normalized. Six of the eight fetuses with functional pulmonary atresia (75.0%), as well as the fetus with functional aortic atresia, survived to birth. In all cases, the functional atresia resolved within 48 h of laser ablation therapy and none had structural valve anomalies at birth. All fetal effusions resolved after the laser. Fetoscopic laser ablation of placental anastomoses reverses cardiac dysfunction and valvulopathy, even in the most severe cases of TTTS. However, recovery takes longer than in early stage disease.

Functional pulmonary atresia in newborn with normal intracardiac anatomy: Successful treatment with inhaled nitric oxide and pulmonary vasodilators

Functional pulmonary atresia is characterized by a structurally normal pulmonary valve that does not open during right ventricular ejection. It is usually associated with Ebstein's anomaly, Uhl's anomaly, neonatal Marfan syndrome and tricuspid valve dysplasia. However, functional pulmonary atresia is rarely reported in newborn with anatomically normal heart. We report a newborn with functional pulmonary atresia who had normal intracardiac anatomy, who responded to treatment with nitric oxide and other vasodilator therapy successfully.

460: Highly realistic simulator for teaching and training fetoscopic laser surgery in twin-to-twin transfusion syndrome

training fetoscopic laser surgery in twin-to-twin transfusion syndrome Suzanne Peeters, Lu-Ming Sun, Frans Klumper, Johanna Middeldorp, Rory Windrim, Enrico Lopriore, Dick Oepkes Leiden University Medical Center, Obstetrics, Leiden, Netherlands, Shanghai First Maternity and Infant Hospital, Obstetrics, Shanghai, China, Mt.Sinai Hospital, University of Toronto, Obstetrics, Toronto, ON, Canada, Leiden University Medical Center, Neonatology, Leiden, Netherlands OBJECTIVE: Fetoscopic laser surgery is the best treatment for TTTS. Success rate and safety depend on skills and experience of the fetal surgeons. Even large fetal treatment centers have limited numbers of cases, and animal models are lacking, therefore teaching and training this procedure is challenging. Aim of our project was to develop a simulator model with the highest possible level of realism. STUDY DESIGN: We injected fresh placentas from untreated monochorionic twins born between 16 and 26 weeks’ gestation with colored dye, realistic light red for veins and dark red for arteries. We inserted the injected placentas in a silicon high fidelity simulator originally developed to train ultrasound-guided obstetric procedures. Preparation, team setting and equipment were identical to real-life surgery. RESULTS: The training sessions included complete set-up and performance of the fetoscopic laser surgery, including identification of anastomoses, selective sequential laser coagulation and drawing of a ‘Solomon’ line. On video, the procedure was virtually identical to imaging in real patients. Using an internet-connection, telementoring of the simulator training sessions performed in centers on two other continents enabled off-site teaching. CONCLUSION: The training sessions included complete set-up and performance of the fetoscopic laser surgery, including identification of anastomoses, selective sequential laser coagulation and drawing of a ‘Solomon’ line. On video, the procedure was virtually identical to imaging in real patients. Using an internet-connection, telementoring of the simulator training sessions performed in centers on two other continents enabled off-site teaching, increasing training opportunities for start-up centers. 461 Fetal cardiac function in recipient fetuses of stage 4 twin-to-twin transfusion syndrome undergoing fetoscopic laser coagulation of placental anastomoses Tim Van Mieghem, Edgar Jaeggi, Rory Windrim, Lisa Hornberger, Greg Ryan Mount Sinai Hospital, Fetal Medicine Unit Obstetrics & Gynecology, Toronto, ON, Canada, Hospital for Sick Children, Fetal Cardiac Program Pediatric Cardiology, Toronto, ON, Canada, Stollery Children’s Hospital, Pediatric Cardiology, Edmonton, ON, Canada OBJECTIVE: Cardiac dysfunction is common in the recipient fetus of twin-to-twin transfusion syndrome (TTTS). Information on fetal cardiac dysfunction in stage 4 TTTS (fetal hydrops) is lacking. In this study, we document severity of fetal cardiac dysfunction in stage 4 TTTS and assess evolution of cardiac function longitudinally after fetoscopic laser. STUDY DESIGN: We retrospectively retrieved obstetric ultrasounds, preand postoperative echocardiograms and neonatal outcomes of 22 cases of stage 4 TTTS undergoing fetoscopic laser. The following echocardiographic parameters were assessed: myocardial performance index, atrio-ventricular valve flow patterns, ventricular shortening fraction, ventricular hypertrophy, outflow tract obstruction and venous Dopplers. RESULTS: Nineteen recipient fetuses (86%) had ascites, 8(36%) had pleural effusions, 9(41%) had a pericardial effusion and 12(55%) had subcutaneous edema at intial presentation. Preoperatively, fetal cardiac function was grossly abnormal in all cases. Eight fetuses (36%) had findings compatible with functional pulmonary atresia and 1 (4.5%) had functional aortic atresia. Postoperative survival of the recipient fetus was 77%. Echocardiographic follow-up at a mean of 26 days (range 1-82 days) postoperatively showed that indices of fetal cardiac function improved considerably, yet that cardiac function did not completely normalise. Six of eight fetuses with functional pulmonary atresia (75%), as well as the fetus with functional aortic atresia survived until birth. In all cases, the functional atresia resolved, often already within the first 48 hours after surgery and these fetuses did not have structural valve anomalies at birth. All fetal effusions resolved after the laser procedure. CONCLUSION: Fetoscopic laser coagulation of placental anastomoses reverses cardiac dysfunction and valvulopathy, even in the more severe cases of TTTS. Recovery however takes longer than in the early disease stages. Clinical characteristics and pregnancy outcomes

Functional pulmonary atresia in newborn

Fonksiyonel pulmoner atrezi (FPA) nadir gorulen klinik bir durumdur. Yapisal olarak yenidogan doneminde pulmoner arter basincinin sag ventrikul basincindan yuksek oldugu bazi olgularda pulmoner kapagin tam olarak acilmamasidir. Intakt ventrikullu anatomik pulmoner atrezilerden spesifik tedavi bicimlerinin farkli olmasindan dolayi ayirt edilmelidir. Bu yazida ciltte siyanoz ile basvurarak biri anatomik olarak normal saptanmis, digerinde Ebstein anomalisi tanisi konulup izlenen iki FPA olgusu sunulmustur.

Surgical Decision Making in Neonatal Ebstein’s Anomaly

There is currently no consensus of opinion regarding the optimal surgical management of Ebstein's anomaly (EA) in neonates and young infants. Reported early mortality rates range from 25% to 100%. In this study, we present an algorithm for choosing the best management option for neonates with EA based on analysis of our experience. From 1994 to June, 2011, 48 neonates with a diagnosis of EA were managed by the same surgical team. Of these, two died before intervention; the remaining 46 either were managed medically initially (n = 20) or underwent surgical intervention during the neonatal period (n = 26) or early infancy (n = 9). The mean weight was 3.6 ± 1.7 kg (1.9-8.6) and mean follow-up time was 6.3 ± 4.5 years (0.2-16). Of the 20 patients initially managed medically, 11 remain well without intervention and nine required complete repair in infancy, with 100% survival. Of the 26 neonatal operations, 23 (88%) were complete biventricular repairs, 1 Starnes' palliation, and two Blalock-Taussig shunts (BTSs) ± pulmonary valvotomy. Among those having a two-ventricle repair, anatomic pulmonary atresia (APA) was a risk factor for early mortality (46.1%, 6 of 13) compared with those without pulmonary atresia (EA/no-PA; 10%, 1 of 10), P < .05. Most symptomatic neonates with EA will require early operation. For those with APA and mild tricuspid regurgitation (TR), a modified BTS and reduction atrioplasty may be the best initial option. For those with functional pulmonary atresia and severe TR and pulmonary regurgitation, ligation of the main pulmonary artery and placement of a BTS may provide the best initial palliation. For the rest, either a biventricular repair or a single-ventricle palliation is indicated.