[Show abstract][Hide abstract] ABSTRACT: -Ebstein anomaly and tricuspid valve dysplasia (EA/TVD) 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 multi-center study to assess outcomes and factors associated with mortality after fetal diagnosis in the current era.
-Fetuses diagnosed with EA/TVD from 2005-2011 were included from 23 centers. The primary outcome was perinatal mortality, defined as fetal demise or death prior to neonatal discharge. Of 243 fetuses diagnosed at a mean gestational age (GA) 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 prior to discharge, yielding an overall perinatal mortality of 45%. Independent predictors of mortality at the time of diagnosis were GA <32 weeks (odds ratio (OR) 8.6 [95% confidence interval: 3.5 - 21.0]; p<0.001), tricuspid valve annulus diameter z-score (OR 1.3 [1.1 - 1.5]; p<0.001), pulmonary regurgitation (PR) (OR 2.9 [1.4 - 6.2]; p<0.001), and a pericardial effusion (OR 2.5 [1.1 - 6.0]; p=0.04). Non-survivors were more likely to have PR at any GA (61% vs. 34%; p<0.001), as well as lower GA and weight at birth (35 vs. 37 weeks; 2.5 vs. 3.0 kg; both p<0.001).
-In this large, contemporary series of fetuses with EA/TVD, perinatal mortality remained high. Fetuses with PR, indicating circular shunt physiology, are a high-risk cohort and may benefit from more innovative therapeutic approaches to improve survival.
[Show abstract][Hide abstract] ABSTRACT: Fetal aortic valvuloplasty (FAV) has shown promise in averting the progression of fetal aortic stenosis to hypoplastic left-heart syndrome. Altered loading conditions due to valvar disease, intrinsic endomyocardial abnormalities, and procedures that alter endomyocardial mechanics may place patients with biventricular circulation (BiV) after FAV at risk of abnormal LV remodeling and function. Using the most recent echo data on BiV patients after technically successful FAV (n = 34), we evaluated LV remodeling pattern, risk factors for pathologic LV remodeling, and the association between LV remodeling pattern and LV function. Median age at follow-up was 4.7 years (range 1.0-12.5). Cardiac interventions were common. At latest follow-up, no patient had hypoplastic LV. Nineteen patients (55 %) had dilated LV, and five (16 %) patients had severely dilated LV. LV remodeling patterns were as follows: 12 (35 %) normal ventricle, 11 (32 %) mixed hypertrophy, 8 (24 %) eccentric hypertrophy or remodeling, and 3 (9 %) concentric hypertrophy. Univariate factors associated with pathologic LV remodeling were long-standing AR, ≥2 cardiac interventions, EFE resection, and aortic or mitral regurgitation ≥ moderate at most recent follow-up. In multivariate analysis, only long-standing AR fraction remained associated with pathologic remodeling. Pathologic LV remodeling was associated with depressed ejection fraction, lower septal E´, and higher E/E´. Pathologic LV remodeling, primarily eccentric or mixed hypertrophy, is common in BiV patients after FAV and is related to LV loading conditions imposed by valvar disease. Pathologic remodeling is associated with both systolic and diastolic dysfunction in this population.
No preview · Article · May 2015 · Pediatric Cardiology
[Show abstract][Hide abstract] ABSTRACT: To evaluate temporal trends in prenatal diagnosis of transposition of the great arteries with intact ventricular septum (TGA/IVS) and its impact on neonatal morbidity and mortality.
Newborns with TGA/IVS referred for surgical management to our center over a 20-year period (1992 - 2011) were included. The study time was divided into 5 four-year periods, and the primary outcome was rate of prenatal diagnosis. Secondary outcomes included neonatal pre-operative status and perioperative survival.
Of the 340 patients, 81 (24%) had a prenatal diagnosis. Prenatal diagnosis increased over the study period from 6% to 41% (p < 0.001). Prenatally diagnosed patients underwent a balloon atrial septostomy (BAS) earlier than postnatally diagnosed patients (0 vs. 1 day, p < 0.001) and fewer required mechanical ventilation (56% vs. 69%, p = 0.03). There were no statistically significant differences in pre-operative acidosis (16% vs. 26%, p = 0.1) and need for preoperative ECMO (2% vs. 3%, p = 1.0). There was also no significant mortality difference (1 pre-operative and no post-operative deaths among prenatally diagnosed patients, as compared to 4 pre-operative and 6 post-operative deaths among postnatally diagnosed patients).
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 different between pre- and postnatally diagnosed patients; however, there were significant pre-operative differences with regard to earlier BAS and less mechanical ventilation. Ongoing study is required to elucidate whether prenatal diagnosis confers long-term benefit.
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Full-text · Article · Dec 2014 · Ultrasound in Obstetrics and Gynecology
[Show abstract][Hide abstract] ABSTRACT: 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 prenatally diagnosed patients.MethodsA multi-center, retrospective study was performed from 2000 to 2013. Neonates with critical AS who were discharged with a BV outcome were included. The prenatal diagnosis rate was compared to that reported for hypoplastic left heart syndrome (HLHS). Fetal echocardiographic findings in prenatally diagnosed patients were reviewed.ResultsOnly 10 of 117 neonates (8.5%) with critical AS and a BV outcome were diagnosed prenatally, a rate significantly lower than that for HLHS in the contemporary era (82%; p < 0.0001). Of the 10 patients diagnosed prenatally, all developed LV dysfunction by a median gestational age of 33 weeks (range, 28-35). When present, Doppler abnormalities such as retrograde flow in the aortic arch (n = 2), monophasic mitral inflow (n = 2), and left to right flow across the foramen ovale (n = 8) developed late in gestation (median 33 weeks).Conclusion
The prenatal diagnosis rate among neonates with critical AS and a BV outcome is very low, likely due to a relatively normal 4-chamber view in mid-gestation with development of significant obstruction in the 3rd trimester. This natural history contrasts with that of severe mid-gestation AS with evolving HLHS and suggests that the timing in gestation of significant AS has an important impact on subsequent left heart growth in utero.
Full-text · Article · Sep 2014 · Ultrasound in Obstetrics and Gynecology
[Show abstract][Hide abstract] ABSTRACT: 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.
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.
[Show abstract][Hide abstract] ABSTRACT: Objectives
We investigated perinatal outcomes after fetal diagnosis of single ventricle cardiac defects. ‘Single ventricle’ was defined as a dominant RV or LV, in which biventricular circulation was not possible.Methods
We reviewed patients with a fetal diagnosis of single ventricle cardiac defect at one institution from 1995–2008. Diagnoses such as double-inlet left ventricle, tricuspid atresia, pulmonary atresia with intact ventricular septum and severe RV hypoplasia, and hypoplastic left heart syndrome (HLHS) were included. HLHS patients were prenatally identified as ‘standard risk’ and ‘high risk’ groups (HLHS with highly restrictive or intact atrial septum, mitral stenosis with aortic atresia, and/or LV coronary artery sinusoids). Patients with an address outside the U.S., heterotaxy syndrome, and referrals for fetal intervention were excluded.ResultsWe identified 312 prenatally diagnosed single ventricle cardiac defects (208 dominant RV; 104 dominant LV). Most (96%) of dominant RV patients had HLHS. There were 98 (31%) elective pregnancy terminations, 12 (4%) spontaneous fetal demises, 12 (4%) prenatal lost to follow-up and 190 (61%) live born. Of the 199 patients with a fetal echocardiogram at <24 weeks, there were 97 (49%) elective pregnancy terminations. There were no differences in prenatal outcome between dominant RV vs. dominant LV (p = 0.9). Of 190 live born infants, 5 received comfort care. With ~7 average years of follow-up through Fontan completion, there was lower transplant free survival in dominant RV versus dominant LV defects (‘standard risk’ HLHS odds ratio 3.0, p = 0.01; ‘high risk’ HLHS odds ratio 8.8, p < 0.001).Conclusions
Whereas the prenatal outcomes of single ventricle cardiac defects were similar, postnatal intermediate-term survival favored those with dominant LV. Prenatally identified ‘high risk’ HLHS was associated with the lowest transplant free survival.
No preview · Article · Jul 2014 · Ultrasound in Obstetrics and Gynecology
[Show abstract][Hide abstract] ABSTRACT: Introduction:
Prenatal diagnosis provides valuable information regarding a variety of congenital heart defects. Some defects occur early in gestation with little change throughout pregnancy, whereas others evolve during mid and late gestation. Fetal cardiac intervention (FCI) affords the opportunity to interrupt progression of disease in this latter category, resulting in improved perinatal and lifelong outcomes.
This chapter addresses three lesions for which percutaneous FCI can be utilized: (1) aortic stenosis with evolving hypoplastic left heart syndrome, for which aortic valvuloplasty may prevent left ventricular hypoplasia and has yielded a biventricular circulation in approximately one third of cases; (2) hypoplastic left heart syndrome with intact atrial septum, for which relief of atrial restriction has potential to improve perinatal survival; and (3) pulmonary atresia with intact ventricular septum and evolving right ventricular hypoplasia, for which pulmonary valvuloplasty has resulted in a biventricular circulation in the majority of patients. The pathophysiology, rationale for intervention, patient selection criteria, procedural technique, and outcomes for each lesion will be reviewed. This chapter will also review complications of FCI and their treatment, and maternal and fetal anesthesia specific to FCI. The importance of a specialized center with experience managing infants delivered after FCI will also be addressed.
No preview · Article · Jun 2014 · American Journal of Perinatology
[Show abstract][Hide abstract] ABSTRACT: Patients with heterotaxy syndrome (HS) have a range of anomalies and outcomes. There are limited data on perinatal outcomes after prenatal diagnosis. To determine the factors influencing perinatal and infant outcomes, we analyzed prenatal and postnatal variables in fetuses with HS from 1995 to 2011. Of 154 fetuses with HS, 61 (40%) had asplenia syndrome (ASP) and 93 (60%) had polysplenia syndrome (PSP). In the ASP group, 22 (36%) patients were elected for termination of pregnancy, 4 (10%) had fetal death, and 35 of 39 (90%) continued pregnancies were live born. In the PSP group, 12 (13%) patients were elected for termination of pregnancy, 5 (6%) had fetal death (4 with bradyarrhythmia), and 76 of 81 (94%) continued pregnancies were live born. Bradyarrhythmia was the only predictor of fetal death. In the live-born ASP group, 43% (15 of 35) died, 7 because of pulmonary vein stenosis, 4 postoperatively, and 4 because of noncardiac causes. In the live-born PSP group, 13% (10 of 76) died, 5 postoperatively, 2 from bradyarrhythmia, 1 from a cardiac event, and 2 from noncardiac causes. Pulmonary vein stenosis and noncardiac anomalies were independent risk factors for postnatal death. Only 8% of ASP patients achieved biventricular circulation, compared with 65% of PSP patients. In the live-born cohort, the 5-year survival rate was 53% for ASP and 86% for PSP. In conclusion, most PSP patients are currently alive with biventricular circulation in contrast with few ASP patients. Bradyarrhythmia was the only predictor of fetal death. Pulmonary vein stenosis and noncardiac anomalies were predictors of postnatal death.
Full-text · Article · Jun 2014 · The American Journal of Cardiology
[Show abstract][Hide abstract] ABSTRACT: The goal of this statement is to review available literature and to put forth a scientific statement on the current practice of fetal cardiac medicine, including the diagnosis and management of fetal cardiovascular disease.
A writing group appointed by the American Heart Association reviewed the available literature pertaining to topics relevant to fetal cardiac medicine, including the diagnosis of congenital heart disease and arrhythmias, assessment of cardiac function and the cardiovascular system, and available treatment options. The American College of Cardiology/American Heart Association classification of recommendations and level of evidence for practice guidelines were applied to the current practice of fetal cardiac medicine. Recommendations relating to the specifics of fetal diagnosis, including the timing of referral for study, indications for referral, and experience suggested for performance and interpretation of studies, are presented. The components of a fetal echocardiogram are described in detail, including descriptions of the assessment of cardiac anatomy, cardiac function, and rhythm. Complementary modalities for fetal cardiac assessment are reviewed, including the use of advanced ultrasound techniques, fetal magnetic resonance imaging, and fetal magnetocardiography and electrocardiography for rhythm assessment. Models for parental counseling and a discussion of parental stress and depression assessments are reviewed. Available fetal therapies, including medical management for arrhythmias or heart failure and closed or open intervention for diseases affecting the cardiovascular system such as twin-twin transfusion syndrome, lung masses, and vascular tumors, are highlighted. Catheter-based intervention strategies to prevent the progression of disease in utero are also discussed. Recommendations for delivery planning strategies for fetuses with congenital heart disease including models based on classification of disease severity and delivery room treatment will be highlighted. Outcome assessment is reviewed to show the benefit of prenatal diagnosis and management as they affect outcome for babies with congenital heart disease.
Fetal cardiac medicine has evolved considerably over the past 2 decades, predominantly in response to advances in imaging technology and innovations in therapies. The diagnosis of cardiac disease in the fetus is mostly made with ultrasound; however, new technologies, including 3- and 4-dimensional echocardiography, magnetic resonance imaging, and fetal electrocardiography and magnetocardiography, are available. Medical and interventional treatments for select diseases and strategies for delivery room care enable stabilization of high-risk fetuses and contribute to improved outcomes. This statement highlights what is currently known and recommended on the basis of evidence and experience in the rapidly advancing and highly specialized field of fetal cardiac care.
[Show abstract][Hide abstract] ABSTRACT: Fetal aortic balloon valvuloplasty (FAV) has shown promise in averting progression of midgestation aortic stenosis (AS) to hypoplastic left heart syndrome in a subset of patients. Patients who achieve biventricular circulation after FAV frequently have left ventricular (LV) diastolic dysfunction (DD). This study evaluates DD in fetuses with AS by comparing echocardiographic indices of LV diastolic function in fetuses underwent FAV (n = 20) with controls (n = 40) and evaluates for LV factors associated with DD in patients with FAV. We also compared pre-FAV and post-FAV DD variables (n = 16). Median gestational age (24 weeks, range 18 to 29 weeks) and fetal heart rate were similar between FAV and controls. Compared with controls, patients with FAV had universally abnormal LV diastolic parameters including fused mitral inflow E and A waves (p = 0.008), higher E velocity (p <0.001), shorter mitral inflow time (p = 0.001), lower LV lateral annulus E' (p <0.001), septal E' (p = 0.003), and higher E/E' (p <0.001) than controls. Patients with FAV had abnormal right ventricular mechanics with higher tricuspid inflow E velocity (p <0.001) and shorter tricuspid inflow time (p = 0.03). Worse LV diastolic function (lower LV E') was associated with higher endocardial fibroelastosis grade (r = 0.74, p <0.001), large LV volume (r = 0.55, p = 0.013), and sphericity (r = 0.58, p = 0.009) and with lower LV pressure by mitral regurgitation jet (r = -0.68, p <0.001). Post-FAV, fewer patients had fused mitral inflow E and A than pre-FAV (p = 0.05) and septal E' was higher (=0.04). In conclusion, fetuses with midgestation AS have evidence of marked DD. Worse DD is associated with larger, more spherical LV, with more extensive endocardial fibroelastosis and lower LV pressure.
No preview · Article · Apr 2014 · The American journal of cardiology
[Show abstract][Hide abstract] ABSTRACT: Congenital atrioventricular (AV) block is commonly associated with heterotaxy syndrome; together they have reportedly low survival rates (10-25 %). However, information about perinatal outcome and predictors of non-survival after prenatal diagnosis of this association is scarce. Therefore, we studied fetuses with heterotaxy syndrome and bradycardia or AV-block diagnosed between 1995 and 2011, and analyzed pre and post-natal variables. The primary outcome was death and the secondary outcome was pacemaker placement. Of the 154 fetuses with heterotaxy syndrome, 91 had polysplenia syndrome, 22/91(24 %) with bradycardia or AV-block. Thirteen (59 %) patients had sinus bradycardia at diagnosis, 8 (36 %) complete AV block, and 1 (5 %) second-degree AV-block. Three patients elected for termination of pregnancy (3/22, 14 %), 4 had spontaneous fetal demise (4/22, 18 %), and 15 (15/22, 68 %) were live-born. Of the fetuses with bradycardia/AV-block, 30 % presented with hydrops, 20 % had ventricular rates <55 beats/min, and 10 % had cardiac dysfunction. Excluding termination of pregnancy, 15/19 fetuses (79 %) survived to birth. Among the 15 live-born patients, 4 had bradycardia and 11 had AV-block. A further 3 patients died in infancy, all with AV-block who required pacemakers in the neonatal period. Thus, the 1-year survival rate, excluding termination of pregnancy, was 63 % (12/19). Of the remaining 12 patients, 9 required pacemaker. Predictors of perinatal death included hydrops (p < 0.0001), ventricular dysfunction (p = 0.002), prematurity (p = 0.04), and low ventricular rates (p = 0.04). In conclusion, we found a higher survival rate (63 %) than previously published in patients with heterotaxy syndrome and AV block or bradycardia diagnosed prenatally. Hydrops, cardiac dysfunction, prematurity and low ventricular rates were predictors of death.
Full-text · Article · Feb 2014 · Pediatric Cardiology
[Show abstract][Hide abstract] ABSTRACT: Patients with borderline left ventricular hypoplasia are traditionally managed using a staged, single-ventricle approach leading to a Fontan circulation. As late follow-up has demonstrated some shortcomings of the Fontan pathway, we have adopted an institutional approach to attempt to manage a greater number of these patients with a “biventricular repair” approach. The term biventricular repair implies the use of one or more surgical techniques to create an anatomy in which two separated ventricular chambers pump blood to the pulmonary and systemic circulations, particularly for patients who have previously been managed using a single-ventricle approach. When considering biventricular repair in patients with a borderline left ventricle, there is an important conceptual question regarding the extent to which left heart structures have sufficient growth potential to become more normal in size and function during postnatal growth and development. The goal of this chapter is to review the spectrum of disease associated with the “borderline left heart” and the options in managing this difficult patient population. We will focus on the more extreme end of the disease spectrum including patients with left-sided ventricular hypoplasia associated with complete AV canal (CAVC) and hypoplastic left heart syndrome (HLHS).
[Show abstract][Hide abstract] ABSTRACT: Objective:
The impact of prenatal intervention on fetal cardiac function has not been well defined. We assessed standard ventricular function parameters and strain in fetuses with evolving hypoplastic left heart syndrome (HLHS) treated with fetal aortic valvuloplasty (fAVP).
Fetuses with valvar aortic stenosis that underwent fAVP were studied. Echocardiographic images prior to intervention (Pre), within 1 week after fAVP (Post), and at the last prenatal follow-up examination (FU) were analyzed. Left ventricular (LV) circumferential (LVCS) and longitudinal strain (LVLS), right ventricular (RV) longitudinal strain (RVLS), and LV end-diastolic dimension Z-scores (LVIDD-Z) were documented and compared according to postnatal outcome.
Among 57 fetuses studied, the postnatal outcome was biventricular in 23 and univentricular in 34. Prior to fAVP, strain was <4 in most cases, regardless of outcome. Biventricular fetuses had higher LVCS and LVLS segmental strain than univentricular fetuses. Among fetuses with a biventricular outcome, LVCS and LVLS increased as LVIDD-Z decreased in late gestation, whereas LVCS and LVLS remained <4 in univentricular fetuses, although the LVIDD-Z decreased to <0 in all cases. Septal RVLS increased after fAVP in the biventricular but not the univentricular outcome group.
In utero aortic valve dilation appears to have a beneficial effect on both LV and RV function in some fetuses with evolving HLHS.
No preview · Article · Nov 2013 · Fetal Diagnosis and Therapy
[Show abstract][Hide abstract] ABSTRACT: Purpose
Transposition of the great arteries with intact ventricular septum (TGA/IVS), despite being a major heart defect, has been shown to have a low rate of prenatal diagnosis (Dx). This is likely due to the obstetric screening technique using a four-chamber view. In TGA/IVS changes occur after birth that untreated may lead to hemodynamic compromise, acidosis and death. Prenatal Dx allows for delivery site planning and timely neonatal management.
The aim of this study was to evaluate the temporal trend in prenatal Dx of TGA/IVS and its impact on neonatal morbidity and mortality.
We included all neonates with TGA/IVS from the New England region, our natural catchment area, referred for surgical repair to Boston Children’s Hospital during the period 1992 to 2012. The 20 year study was divided into five-year periods. We compared pre and post-op variables between those diagnosed pre or postnatally. Pre-op variables included prenatal Dx, gestational age and weight at birth, age at admission, need for mechanical ventilation and ECMO, metabolic acidosis, timing of septostomy and surgery, and mortality. Post-op variables included need for ECMO, mortality and ICU and hospital stay.
A total of 340 neonates were included. Of the 340 patients, 81(24%) had prenatal Dx at a median gestational age of 22.5 weeks (range17-38). There was an increase in the prenatal detection rate over the study period, from 6%, at the first period (1992-1996), to 42% at the last period (2008-2012) (p<0.0001). Gestational age at birth was lower in the prenatal group (38.3 vs. 38.8 weeks, p<0.05) but birth weight was similar between groups (3290 vs. 3350 gm). Age at admission (0 vs. 1.5 days, p<0.0001), at septostomy (0.3 vs.1.3 days, p<0.001) and surgery (4 vs. 4.7 days, p<0.05) were significantly lower in the prenatal Dx group. The prenatal Dx group had less metabolic acidosis (16% vs. 26%, p<0.05), need for mechanical ventilation (55% vs. 69%, p<0.05) and need for ECMO (2.5% vs. 2.7%, p=0.63) prior to surgery. The overall mortality was low at 3.2%. In the postnatal Dx group 10/259 patients died, 4 pre-op and 6 post-op. There was 1 death (pre-op) in the prenatal Dx group due to a complication related to the atrial septostomy. Hospital stay was longer (16.2 vs. 14.5 days) but ICU stay (6.2 vs. 6.7 days) was shorter for the prenatal Dx group, without significant differences between groups.
Prenatal detection rate of TGA/IVS increased significantly over the study period, but is still disappointingly low at less than 50%. Although the mortality rate was not different between pre and postnatal Dx groups, patients with prenatal Dx had significantly less metabolic acidosis and need for mechanical ventilation as well as earlier admission, septostomy and surgery.