Perivascular Basal Echogenicity in the Fetal Heart: An Unconventional Marker of Maternal Autoimmune Antibodies.

Fetal congenital heart block is a widely recognized complication of pregnancies with anti Ro/La antibodies. Less common presentations, including dilated cardiomyopathy, myocarditis, valvular insufficiency, and endocardial fibroelastosis, have also been described in these fetuses. We present two cases where recognition of isolated basal echogenicity of the fetal heart, an unconventional manifestation of anti-SSA antibodies during pregnancy, led to a suspicion and ultimately diagnosis of antibody positivity in the mother. These cases highlight the importance of being aware of this rare manifestation of anti-SSA antibodies during pregnancy, as early recognition of antibody positivity may lead to improve fetal and maternal outcomes.

Integration of Prenatal Cardiovascular Magnetic Resonance Imaging in Congenital Heart Disease.

Standard of care echocardiography can have limited diagnostic accuracy in certain cases of fetal congenital heart disease. Prenatal cardiovascular magnetic resonance (CMR) imaging has potential to provide additional anatomic imaging information, including excellent soft tissue images in multiple planes, improving prenatal diagnostics and in utero hemodynamic assessment. We conducted a literature review of fetal CMR, including its development and implementation into clinical practice, and compiled and analyzed the results. Our findings included the fact that technological and innovative approaches are required to overcome some of the challenges in fetal CMR, in part due to the dynamic nature of the fetal heart. A number of reconstruction algorithms and cardiac gating strategies have been developed over time to improve fetal CMR image quality, allowing unique investigations into fetal hemodynamics, oxygenation, and growth. Studies demonstrate that incorporating CMR in the prenatal arena influences postnatal clinical management. With further refinement and experience, fetal CMR in congenital heart disease continues to evolve and demonstrate ongoing potential as a complementary imaging modality to fetal echocardiography in the care of these patients.

Reference Ranges and Development Patterns of Fetal Myocardial Function Using Speckle Tracking Echocardiography in Healthy Fetuses at 17 to 24 Weeks of Gestation.

OBJECTIVE: The purposes of the study were to develop reference ranges and maturation patterns of fetal cardiac function parameters measured by speckle tracking echocardiography (STE) using multiple biometric variables at 17 to 24 weeks' gestation among Thai fetuses and to compare with other previous reports. STUDY DESIGN: The four-chamber view of the fetal heart in 79 healthy fetuses was suitably analyzed by STE to establish the best-fit regression model. The 95% reference intervals and Z-score equations of fetal cardiac function parameters were computed. RESULTS: The fractional area change of both ventricles, left ventricular (LV) end-diastolic and end-systolic volumes, LV stroke volume, LV cardiac output (CO), and LV CO per kilogram were all increased according to gestational age (GA) and five fetal biometric measurements. However, the global longitudinal strain, basal-apical length fractional shortening (BAL-FS), BAL annular free wall and septal wall FS, BAL free wall and septal wall annular plane systolic excursions, 24-segment transverse width FS, as well as LV ejection fraction were all independent of GA or other somatic characteristics. There were varying development patterns between fetal right and left ventricles of these cardiac function indices across the gestation period. CONCLUSION: Our study created Z-score and corresponding centile calculators, 5th and 95th centile reference tables, and corresponding graphs and determined the normal evolution across gestation using multiple somatic growth and age variables between 17 and 24 gestational weeks. These nomograms serve as an essential prerequisite for quantitatively evaluating fetal cardiac contractility and allow for precisely detecting early changes in the fetal heart function. KEY POINTS: · Most fetal cardiac function measurements were correlated with all the independent variables.. · Fetal ventricular function parameters have their own characteristic maturation changes.. · Racial variability may not occupy an important place for fetal myocardial function during these GA..

Speckle Tracking Analysis in Fetuses with D-Transposition: Predicting the Need for Urgent Neonatal Balloon Atrial Septostomy.

INTRODUCTION: Speckle tracking analysis of the endocardium of the right (RV) and left (LV) ventricles was used to evaluate the size, shape, and contractility of these chambers in fetuses with D-Transposition of the great arteries (D-TGA) to identify fetuses that would require emergent balloon atrial septostomy (BAS) after birth. METHODS: This was a retrospective analysis of fetuses with D-TGA and intact ventricular septum that were divided into 2 groups. Group 1 underwent urgent BAS after birth because of a restrictive atrial septum and group 2 did not. Using speckle tracking analysis, the end-diastolic and end-systolic RV and LV areas, lengths, widths, sphericity indices, and contractility were computed. Logistic regression analysis was performed to identify fetuses who would require urgent neonatal BAS. RESULTS: Of the 39 fetuses with D-TGA, 55% (n = 22) required urgent neonatal BAS (group 1) and 45% (n = 17) (group 2) did not. When comparing D-TGA groups 1 and 2, differences were seen in RV and LV area, sphericity index for segment 1 of the LV, LV fractional area of change and free wall annular plane systolic excursion, fractional shortening for LV segment 12, and RV free wall strain. Regression analysis of these measurements identified 91% of neonates who underwent BAS, with a false-positive rate of 12%. CONCLUSION: Using speckle tracking analysis to evaluate the RV and LV, measurable differences were identified for the RV and LV size, shape, and contractility between fetuses who underwent neonatal urgent BAS vs. those who did not require this procedure.

Speckle tracking analysis to evaluate the size, shape, and function of the atrial chambers in fetuses with d-transposition of the great arteries to predict the need for neonatal urgent balloon atrial septostomy.

INTRODUCTION: Speckle tracking analysis was used to evaluate right (RA) and left (LA) atria size, shape and contractility to create a probability calculator to identify fetuses at risk for urgent neonatal balloon atrial septostomy (BAS). METHODS: The study group consisted of 39 fetuses with D-TGA, of which 55% (N = 22) required neonatal BAS and 45% (N = 17) did not. The RA and LA end-diastolic areas, lengths, widths, and sphericity indices as well as global, longitudinal, and transverse contractility were measured with speckle tracking analysis. The z-scores of the measurements were compared to 200 controls. Logistic regression analysis of the computed z-score measurements was performed to separate fetuses requiring urgent neonatal atrial BAS from those who did not. RESULTS: The following z-score values for all fetuses with D-TGA, irrespective of whether they required neonatal BAS, that were significantly less than controls: RA base sphericity index, basal-apical length fractional shortening, fractional area change, lateral wall annular plane systolic excursion (APSE), and longitudinal reservoir strain; LA mid-chamber width, fractional shortening, ejection fraction, basal-apical length fractional shortening, atrial ejection volume, septal wall APSE, and reservoir strain. The following z-score values were significantly larger than control values: RA/LA mid-chamber width, RA/LA base width, and RA mid-chamber length. Logistic regression analysis identified the following five measurements that correctly identified 19 of 22 fetuses requiring urgent neonatal atrial BAS with a sensitivity of 86.4%, a false-positive rate of 11.8% and a positive predictive value of 90.4%: (1) LA mid-chamber transverse fractional shortening, (2) RA mid-chamber end-diastolic width, (3) RA basal-apical length fractional shortening, (4) RA mid-chamber fractional shortening, and (5) RA fractional area change. CONCLUSION: Using the measurements described in this study identified significant differences between all fetuses with D-TGA and controls, as well as identified measurements that predicted the probability of D-TGA fetuses requiring neonatal septostomy.

Abnormalities of the Width of the Four-Chamber View and the Area, Length, and Width of the Ventricles to Identify Fetuses at High-Risk for D-Transposition of the Great Arteries and Tetralogy of Fallot.

OBJECTIVES: The prenatal detection of D-Transposition of the great arteries (D-TGA) and tetralogy of Fallot (TOF) has been reported to be less than 50% to as high as 77% when adding the outflow tracts to the four-chamber screening protocol. Because many examiners still struggle with the outflow tract examination, this study evaluated whether changes in the size and shape of the heart in the 4CV as well as the ventricles occurred in fetuses with D-TGA and TOF could be used to screen for these malformations. METHODS: Forty-four fetuses with the pre-and post-natal diagnosis of D-TGA and 44 with TOF were evaluated between 19 and 36 weeks of gestation in which the 4CV was imaged. Measurements of the end-diastolic width, length, area, and global sphericity index were measured for the four-chamber view and the right and left ventricles. Using z-score computed values, logistic regression was performed between the 88 study and 200 control fetuses using the hierarchical forward selection protocol. RESULTS: Logistic regression identified 10 variables that correctly classified 83/88 of fetuses with TOF and TGA, for a sensitivity of 94%. Six of 200 normal controls were incorrectly classified for a false-positive rate of 3%. The area under the receiver operator classification curve was 98.1%. The true positive rate for D-TGA was 93.2%, with a false-negative rate to 6.8%. The true positive rate for TOF was 95.5%, with a false negative rate of 4.5%. CONCLUSIONS: Measurements of the 4CV and of the RV and LV may help identify fetuses at risk for D-TGA or TOF.

Longitudinal Surveillance of Fetal Heart Failure Using Speckle Tracking Analysis.

Long-term monitoring of a fetus with heart failure is an undeniable challenge for prenatal cardiology. Echocardiography is constrained by many fetal and maternal factors, and it is difficult to maintain the reproducibility of the measured and analyzed parameters. In our study, we presented the possibilities of using modern speckle tracking technology in combination with standard echocardiography parameters that may be insufficient or less sensitive in the context of monitoring life-threatening fetal conditions. Our analysis shows the superiority of the parameters used to assess fetal cardiac architecture, such as the GSI Global sphericity Index, and fetal cardiac function, such as the FAC fractional area change and the EF ejection fraction, which temporal change may indicate a worsening condition of the fetus with heart failure. The significant increase in the parameters of fetal heart size in speckle tracking allows for an improved echocardiographic diagnosis and monitoring of the fetus with heart failure and the prognostic conclusions about the clinical condition after birth. Significant decreases in FAC for the left and right ventricles and EF for the left ventricle may indicate an unfavourable prognosis for the monitored fetus due to heart failure.

Prenatal Detection of Congenital Heart Disease: Importance of Fetal Echocardiography Following Normal Fetal Cardiac Screening.

Fetal echocardiography may be performed because of noncardiac indications (the pregnancy is identified as high risk for fetal cardiac disease), or because of fetal cardiac indications (abnormal fetal heart at the time of a screening ultrasound). Considering recent improvements in fetal cardiac screening over the past decade, the goal of this single institution study was to reconsider the importance of performing fetal echocardiography purely for screening (noncardiac) indications. We performed a retrospective analysis to review screening and fetal cardiac indications and fetal cardiac findings for fetal echocardiograms performed at UCLA between 2015 and 2019. Fetal heart disease was identified in 391 (15%) of 2592 pregnancies in this study. Among these 391 cases, 227 (58%) occurred in low-risk pregnancies (without screening indications). While 79% of the cases of fetal cardiac disease were referred with fetal cardiac indications, 21% of the cases were referred with exclusively screening indications. Fetal cardiac disease was discovered on fetal echocardiograms in 4% of pregnancies referred for exclusively screening indications, but the frequency of fetal cardiac disease following normal fetal cardiac screening has decreased from 6% in 2015 to 3% in 2019. In our population, we recommend continued referral for fetal echocardiography for pregnancies identified as high risk for CHD. However, as fetal cardiac screening continues to improve, referral for fetal echocardiography following normal fetal cardiac screening will have diminishing value and yield.

Speckle-Tracking Analysis in Fetuses With Tetralogy of Fallot: Evaluation of Right and Left Ventricular Contractility and Left Ventricular Function.

OBJECTIVES: This study examines fetuses with tetralogy of Fallot (TOF) and evaluates the right (RV) and left (LV) ventricular contractility and LV function using speckle-tracking analysis of the endocardium. METHODS: The study group consisted of 44 fetuses with TOF, of which 34% had pulmonary valve atresia (N = 15) and 59% (N = 26) had pulmonary valve stenosis. The RV and LV global fractional area change, longitudinal contractility (longitudinal strain, free wall strain, septal strain, free wall and septal annular fractional shortening, and free wall and septal wall annular plane systolic excursion), and transverse contractility (24-segment fractional shortening) as well as LV functional assessment (stroke volume, cardiac output, and ejection fraction) were measured using speckle-tracking analysis. The z-scores of the measurements were compared to 200 controls. RESULTS: Compared to controls, measurements of LV contractility in fetuses with TOF demonstrated significantly abnormal values for global contractility, longitudinal contractility, and transverse contractility of the mid and apical segments. LV function was abnormal for stroke volume (SV), cardiac output (CO), and ejection fraction (EF). In comparison, RV contractility demonstrated no significant difference between TOF and control z-score values for RV global contractility. Only two RV measurements were found to be abnormal: longitudinal contractility and transverse contractility of the apical segments. CONCLUSION: Using multiple measurement tools to evaluate global, longitudinal, and transverse contractility, this study identified significant differences between fetuses with TOF and healthy controls, with greater contractility abnormalities seen in the LV than in the RV.

Measuring the Area of the Interventricular Septum in the 4-Chamber View: A New Technique to Evaluate the Fetus at Risk for Septal Hypertrophy.

OBJECTIVES: One of the problems for the clinician who desires to measure the interventricular septum (IVS) in a high-risk fetus is to know where to make the measurement. The purpose of this study was to use speckle-tracking analysis to measure the IVS area, 24-segment widths, and length at end-diastole (ED) and end-systole (ES) in normal fetuses. METHODS: From the 4-chamber view, speckle-tracking analysis was performed at ED and ES on the IVS in 200 normal fetuses. The following were computed and regressed against gestational age (GA) and fetal biometric (FB) measurements: area, length, and the 24-segment transverse widths from the apex to the crux. The 24-segment width/length ratio was also measured. The speckle-tracking measurements of the ED area and length were compared using a point-to-point measurement tool available on all ultrasound machines. RESULTS: The ED and ES areas, lengths, and 24-segment widths increased with GA and FB. The ED and ES areas were virtually identical. The 24-segment width/length ratio decreased from the apex to the crux of the septum. There was no significant difference in the measurement of the ED area and the length between speckle-tracking and the point-to-point measurements. CONCLUSIONS: Measurement of the area and length of the IVS are simple to obtain and provide a new diagnostic tool to evaluate the fetus at risk for IVS hypertrophy which may be observed in fetuses of mothers with pregestational and gestational diabetes.

Speckle Tracking Analysis to Evaluate the Size, Shape, and Function of the Atrial Chambers in Normal Fetuses at 20-40 Weeks of Gestation.

OBJECTIVES: The purpose of this study was to use speckle tracking analysis to evaluate the size, shape, and function of the atrial chambers in normal fetuses and develop a z-score calculator that can be used in future studies in fetuses at risk for cardiovascular disease. METHODS: The control group consisted of 200 normal fetuses examined between 20 and 40 weeks of gestation in which speckle tracking analysis of right (RA) and left (LA) atrial chambers was performed. The atrial end-diastolic and end-systolic endocardial borders for each chamber were identified from which measurements of atrial length, width, area, and volume were computed. Equations were derived using fractional polynomial regression analysis to compute z-score equations. RESULTS: The LA end-diastolic volume, RA and LA end-diastolic area, length, base width, and mid-chamber widths increased with gestational age and fetal size. Left atrial emptying and ejection volumes increased with gestational age and fetal size. The fractional area change was significantly less for the RA than the LA. The LA base and mid-chamber fractional shortening were significantly greater than the RA. There was a significant difference between the RA and LA global contractile strain. CONCLUSION: Mean and standard deviation equations for each of the measurements described in this study were computed to create a z-score calculator that can be utilized in the clinical environment when evaluating fetuses with suspected atrial pathology that could alter the size, shape, and function of the atrial chambers.

Assessment of the Size and Shape of the 4-Chamber View and the Right and Left Ventricles Using Fetal Speckle Tracking in Normal Fetuses at 17-24 Gestational Weeks.

INTRODUCTION: The aim of the study was to establish normal reference values obtained by fetal speckle tracking analysis of the fetal heart between 17 and 24 weeks of gestation among Thai fetuses and compare the nomograms with previous studies. METHODS: The 4-chamber view (4CV) of the fetal heart in 79 normal fetuses was analyzed by speckle tracking analysis to determine the best-fit regression model. The 95% reference intervals and Z-score equations of fetal cardiac parameters were computed. RESULTS: The end-diastolic length, width, area, and circumference of the 4CV as well as the ventricular end-diastolic length, 24-segment widths, and area were all increased as a function of gestational age (GA), and 5 fetal biometric parameters. In contrast, the global sphericity index (SI), 24-segment SI, and right ventricle/left ventricle width and area ratios did not change with GA or fetal biometric measurements. There were few differences in Z-score reference ranges of fetal cardiac measurements between the current study and previous studies conducted in different patient populations. CONCLUSION: Our study provided z-score and corresponding centile calculators, 5th and 95th centile reference tables, and corresponding graphs for evaluating the size and shape of the 4CV and the right and left ventricles using 6 independent variables between 17 and 24 weeks of gestation. These results provide normal reference ranges for future studies of fetuses with pathologies that may alter the size and shape of the 4CV and ventricles.

Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology.

A six-fold increase in congenital heart defects (CHD) exists among monochorionic (MC) twins compared to singleton or dichorionic twin pregnancies. Though MC twins share an identical genotype, discordant phenotypes related to CHD and other malformations have been described, with reported rates of concordance for various congenital anomalies at less than 20%. Our objective was to characterize the frequency and spectrum of CHD in a contemporary cohort of MC twins, coupled with genetic and clinical variables to provide insight into risk factors and pathophysiology of discordant CHD in MC twins. Retrospective analysis of all twins receiving prenatal fetal echocardiography at a single institution from January 2010 -March 2020 (N = 163) yielded 23 MC twin pairs (46 neonates) with CHD (n = 5 concordant CHD, n = 18 discordant CHD). The most common lesions were septal defects (60% and 45.5% in concordant and discordant cohorts, respectively) and right heart lesions (40% and 18.2% in concordant and discordant cohorts, respectively). Diagnostic genetic testing was abnormal for 20% of the concordant and 5.6% of the discordant pairs, with no difference in rate of abnormal genetic results between the groups (p = 0.395). No significant association was found between clinical risk factors and development of discordant CHD (p>0.05). This data demonstrates the possibility of environmental and epigenetic influences versus genotypic factors in the development of discordant CHD in monochorionic twins.

Evaluation of Fetal Cardiac Size and Shape: A New Screening Tool to Identify Fetuses at Risk for Tetralogy of Fallot.

OBJECTIVE: Prenatal detection rates for tetralogy of Fallot (TOF) vary between 23 and 85.7%, in part because of the absence of significant structural abnormalities of the 4-chamber view (4CV), as well as the relative difficulty in detection of abnormalities during the screening examination of the outflow tracts. The purpose of this study was to evaluate whether the 4CV and ventricles in fetuses with TOF may be characterized by abnormalities of size and shape of these structures. METHODS: This study retrospectively evaluated 44 fetuses with the postnatal diagnosis of TOF. Measurements were made from the 4CV (end-diastolic length, width, area, global sphericity index, and cardiac axis) and the right (RV) and left (LV) ventricles (area, length, 24-segment transverse widths, sphericity index, and RV/LV ratios). Logistic regression analysis was performed to identify variables that might separate fetuses with TOF from normal controls. RESULTS: The mean gestational age at the time of the last examination prior to delivery was 28 weeks 5 days (SD 4 weeks, 4 days). The mean z-scores were significantly lower in fetuses with TOF for the 4CV and RV and LV measurements of size and shape. Logistic regression analysis identified simple linear measurements of the 4CV, RV, and LV that had a sensitivity of 90.9 and specificity of 98.5% that outperformed the 4CV cardiac axis (sensitivity of 22.7%) as a screening tool for TOF. CONCLUSIONS: Measurements of the 4CV, RV, and LV can be used as an adjunct to the outflow tract screening examination to identify fetuses with TOF.

Evaluation of cardiac function in the recipient twin in successfully treated twin-to-twin transfusion syndrome using a novel fetal speckle-tracking analysis.

INTRODUCTION: This study was designed to evaluate ventricular size, shape, and function in recipient twins following laser therapy for twin-twin transfusion syndrome (TTTS), using novel speckle-tracking techniques. METHODS: This retrospective study enrolled patients that underwent fetal laser surgery for TTTS and had fetal echocardiograms (FE) performed pre- and post-operatively (op), with adequate resolution in the 4-chamber view for analysis, using a speckle-tracking software, to compute the size, shape, and function of both the right (RV) and left (LV) ventricles. Values were indexed to published normal values. Pre- and post-laser Z-score values for each of the measurements were compared using the Student's t-test, with significance defined as P < 0.05. RESULTS: Fifteen TTTS candidate pregnancies that underwent laser therapy between 2010 and 2017, with adequate pre- and post-op FE, were selected for the analysis. Post-op FE at 28.5 ± 8.3 days showed a significant decrease in RV base dimension, increased LV base dimension, and improvements in many functional measurements: LV global and free wall strain, LV fractional area change, LV basal-apical fractional change, and LV and RV 24-segment fractional shortening (FS) of the basal segments. CONCLUSIONS: Cardiac remodeling, following laser surgery in TTTS recipient twins, was demonstrated in the basal portion of both the RV and LV with improved biventricular function.

Comparing the Non-Quiver and Quiver Techniques for Identification of the Endocardial Borders Used for Speckle-Tracking Analysis of the Ventricles of the Fetal Heart.

This study compared the non-quiver with the quiver technique for identifying the end-systolic and end-diastolic endocardium of the fetal right ventricle (RV) and left ventricle (LV) used for speckle-tracking analysis. Bland-Altman and t test analyses showed no significant differences in measurements between the techniques for the RV and LV. The difference in the time required to perform the non-quiver analysis was significantly longer (P < .001) for the RV and LV than the quiver technique. The quiver technique allows the examiner to efficiently identify the endocardial borders of the fetal heart compared with the non-quiver method.

Neonatal management of prenatally suspected coarctation of the aorta.

OBJECTIVES: (a) To determine the false-positive rate among newborns with prenatally suspected coarctation of the aorta (CoA) within the UCLA Health system, (b) to compare patient and maternal interventions and outcomes between false-positive cases and normal controls, and (c) to determine the timing of clinical presentation of CoA. METHODS: We performed a single-center, retrospective case control study of all fetuses with suspected isolated CoA who underwent both fetal echocardiographic evaluation and subsequent delivery at UCLA between January 1, 2011, and December 31, 2018. Maternal and neonatal medical records were reviewed for demographic and clinical data, for cases of suspected CoA and for controls. A separate review of our institution's surgical database was performed to identify characteristics of all patients (neonatal and pediatric) with isolated CoA who underwent surgical repair during the same time period. RESULTS: Among the 50 fetal cases of isolated suspected CoA who delivered at our institution, 47 patients (94%) were found to be normal (false positives). Compared with normal controls, patients with suspected CoA were more likely to have delayed maternal bonding, delayed feeding, admission to the intensive care unit, performance of neonatal echocardiograms, initiation of intravenous fluids and initiation of prostaglandin E1, and a longer length of hospital stay. Among the 38 patients undergoing CoA repair at our institution during the study period, four patients were prenatally diagnosed and no patient presented clinically with symptoms before 48 hours after delivery. CONCLUSION: Compared with normal controls, patients with prenatally suspected coarctation are more likely to have delayed maternal bonding, delayed feeding, more frequent neonatal echocardiograms, and longer length of hospital stay. Further refinement of neonatal management may improve postnatal care.

Aortic Coarctation: A Comprehensive Analysis of Shape, Size, and Contractility of the Fetal Heart.

BACKGROUND: An integrated assessment of the size and shape of the 4-chamber view (4-CV) and right and left ventricles (RV and LV) as well as the function of the RV and LV in fetuses with coarctation of the aorta (CoA) has not yet been conducted. OBJECTIVES: We evaluated the size and shape of the 4-CV, RV, and LV, and function of the RV and LV, to identify a profile for fetuses with CoA when compared to a control population. METHODS: 50 CoA fetuses were compared to 200 controls. This was a retrospective case series comparing the 4-CV of CoA fetuses and controls. The 4-CV end-diastolic area, length, width, and sphericity index were measured to determine the configuration of the 4-CV. Speckle-tracking analysis was used to compute the RV and LV end-diastolic area, length, 24-segment sphericity index, 24-segment transverse width, and the following functional parameters: (1) fractional area change; (2) global, lateral, and septal strain; (3) basal-apical, lateral, and septal annular displacement and fractional shortening; and (4) 24-segment transverse width fractional shortening. Using 5 and 95% reference intervals, the CoA fetal measurements were classified; from these, the odds ratio was computed between the fetuses with CoA and the controls. p < 0.05 was considered significant. RESULTS: In fetuses with CoA, the 4-CV was spherical in shape, increased in area and width, and decreased in length. Abnormal CoA sphericity indices reflected a flatter LV and a more spherical RV. The LV area, length, and width, and RV length were decreased. The transverse width of the RV was increased. RV and LV global, longitudinal, and transverse contractility were depressed. CONCLUSIONS: The results demonstrate previously unappreciated differences in the shape, size, and function of the heart in fetuses with CoA. These differences may assist examiners in identifying fetuses with CoA.

Fetal cardiac rhabdomyomas treated with maternal sirolimus.

OBJECTIVE: To review the pathophysiology of rhabdomyomas and the emerging option of prenatal treatment of fetal cardiac rhabdomyomas. METHODS: We present a case of fetal rhabdomyomas causing significant hemodynamic compromise that received in utero treatment of maternal sirolimus. Genetic amniocentesis confirmed a TSC2 mutation. A treatment program was initiated with a 10-mg loading dose titrated to a goal maternal trough of 10 to 15 ng/dL. In order to follow fetal cardiac function, a sophisticated method of speckle tracking echocardiography was used before and after treatment. Obstetric ultrasound was used to monitor fetal growth, and clinical surveillance, echocardiography, and brain MRI were used to monitor postnatal growth and development through 6 months of neonatal life. RESULTS: Sirolimus was initiated from 28 to 36 weeks of gestation with improvement of cardiac status. During this period, intrauterine growth restriction developed. Postnatally, the infant has had stable rhabdomyomas and cardiac function without reinitiating sirolimus. Brain MRI demonstrated scattered cortical tubers and subependymal nodules, and the infant has not had seizure-like activity. At 6 months of age, the infant has achieved appropriate developmental milestones. CONCLUSION: In counseling cases of prenatal onset large obstructing rhabdomyomas and cardiac compromise, in utero sirolimus treatment can be considered.