Prenatal diagnosis of aortic arch anomalies: Echocardiography, 3D-ultrasonography, and computed tomography angiogram findings. A case-report.

We report the case of a fetus presenting aortic arch anomalies associated with a ventricular septal defect (VSD). This fetus, which was referred at 25 weeks of gestation, was suspected to have coarctation of aorta (CoA) evidenced by enlarged right chambers at the four-chamber view during a routine obstetric ultrasonographic scan. The prenatal diagnosis of CoA remains a challenge. Here, we review the ultrasonographic findings that could contribute to this diagnosis.

Fetal cardiac filling and ejection time fractions by pulsed-wave Doppler: reference ranges and potential clinical application.

OBJECTIVES: Fetal cardiac function can be evaluated using a variety of parameters. Among these, cardiac cycle time-related parameters, such as filling time fraction (FTF) and ejection time fraction (ETF), are promising but rarely studied. We aimed to report the feasibility and reproducibility of fetal FTF and ETF measurements using pulsed-wave Doppler, to provide reference ranges for fetal FTF and ETF, after evaluating their relationship with heart rate (HR), gestational age (GA) and estimated fetal weight (EFW), and to evaluate their potential clinical utility in selected fetal conditions. METHODS: This study included a low-risk prospective cohort of singleton pregnancies and a high-risk population of fetuses with severe twin-twin transfusion syndrome (TTTS), aortic stenosis (AoS) or aortic coarctation (CoA), from 18 to 41 weeks' gestation. Left ventricular (LV) and right ventricular inflow and outflow pulsed-wave Doppler signals were analyzed, using valve clicks as landmarks. FTF was calculated as: (filling time/cycle time) × 100. ETF was calculated as: (ejection time/cycle time) × 100. Intraclass correlation coefficients (ICC) were used to evaluate the intra- and interobserver reproducibility of FTF and ETF measurements in low-risk fetuses. The relationships of FTF and ETF with HR, GA and EFW were evaluated using multivariate regression analysis. Reference ranges for FTF and ETF were then constructed using the low-risk population. Z-scores of FTF and ETF in the high-risk fetuses were calculated and analyzed. RESULTS: In total, 602 low-risk singleton pregnancies and 54 high-risk fetuses (nine pairs of monochorionic twins with severe TTTS, 16 fetuses with AoS and 20 fetuses with CoA) were included. Adequate Doppler traces for FTF and ETF could be obtained in 95% of low-risk cases. Intraobserver reproducibility was good to excellent (ICC, 0.831-0.905) and interobserver reproducibility was good (ICC, 0.801-0.837) for measurements of all timing parameters analyzed. Multivariate analysis of FTF and ETF in relation to HR, GA and EFW in low-risk fetuses identified HR as the only variable predictive of FTF, while ETF was dependent on both HR and GA. FTF increased with decreasing HR in low-risk fetuses, while ETF showed the opposite behavior, decreasing with decreasing HR. Most recipient twins with severe TTTS showed reduced FTF and preserved ETF. AoS was associated with decreased FTF and increased ETF in the LV, with seemingly different patterns associated with univentricular vs biventricular postnatal outcome. The majority of fetuses with CoA had FTF and ETF within the normal range in both ventricles. CONCLUSIONS: Measurement of FTF and ETF using pulsed-wave Doppler is feasible and reproducible in the fetus. The presented reference ranges account for associations of FTF with HR and of ETF with HR and GA. These time fractions are potentially useful for clinical monitoring of cardiac function in severe TTTS, AoS and other fetal conditions overloading the heart. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.

Redundancy of foramen ovale flap may mimic fetal aortic coarctation.

OBJECTIVES: To assess the relationship between presence of a redundant foramen ovale flap (RFOF), in the absence of a clearly restrictive foramen ovale, and ventricular disproportion, in three groups of fetuses: (1) those with a final diagnosis of aortic coarctation (CoA); (2) those referred for suspicion of ventricular disproportion and/or CoA which did not develop CoA postnatally; and (3) normal fetuses. METHODS: This was a retrospective study including 73 fetuses: 12 with a final diagnosis of isolated CoA; 30 referred for suspicion of ventricular disproportion and/or CoA, which did not develop CoA postnatally; and 31 normal fetuses. Four-dimensional volume datasets and clips were assessed offline. Maximum diameters of the FOF (FOFD), left atrium (LAD), right atrium, left and right ventricles and, when available, aortic isthmus, were measured, as were areas of the FOF (FOFA), left atrium (LAA) and right atrium. The left/right ratios for all segments of the heart, as well as the FOFD/LAD ratio and FOFA/LAA ratio, were calculated. Regression analysis was performed to assess the relationship between RFOF and ventricular disproportion and means were compared by ANOVA. RESULTS: Repeatability was fair, with all variables having an intraclass correlation coefficient ≥ 83%. In the pooled group of fetuses with no CoA found at birth (normal fetuses plus those with ventricular disproportion (n = 61)), there was a significant linear correlation between redundancy of the FOF and degree of ventricular disproportion (P < 0.01 and P < 0.05 for diameter and area ratios, respectively). Categorizing the FOF redundancy, FOFD/LAD ratio ≥ 0.65 was significantly associated with ventricular disproportion (P = 0.006). Based on the degree of FOF prominence, we described four categories of redundancy, ranging from no redundancy/ventricular disproportion (Stage 0) to severe redundancy/ventricular disproportion with transient obstruction of the foramen ovale or mitral orifice (Stage III). Comparing cases without neonatal evidence of coarctation but FOFD/LAD ratio ≥ 0.65 vs those with neonatal evidence of coarctation, there was no statistically significant difference in the degree of ventricular disproportion or in the Z-score of the aortic isthmus maximum diameter. CONCLUSIONS: This study demonstrates that: (1) there is an association between RFOF and ventricular disproportion, independent of the association with a restrictive foramen ovale, and (2) the presence of a RFOF may mimic CoA. In fact, it causes both ventricular disproportion and a significant reduction in the diameter of the aortic isthmus, associated in some cases also with reversed isthmic flow. Future prospective studies are needed to evaluate whether focusing the sonologist's attention on the appearance of the foramen ovale may reduce the rate of false-positive diagnosis of CoA. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.

Early cardiac remodeling in aortic coarctation: insights from fetal and neonatal functional and structural assessment.

OBJECTIVES: Coarctation of the aorta (CoA) is associated with left ventricular (LV) dysfunction in neonates and adults. Cardiac structure and function in fetal CoA and cardiac adaptation to early neonatal life have not been described. We aimed to investigate the presence of cardiovascular structural remodeling and dysfunction in fetuses with CoA and their early postnatal cardiac adaptation. METHODS: This was a prospective observational case-control study, conducted between 2011 and 2018 in a single tertiary referral center, of fetuses with CoA and gestational age-matched normal controls. All fetuses/neonates underwent comprehensive echocardiographic evaluation in the third trimester of pregnancy and after birth. Additionally, myocardial microstructure was assessed in one fetal and one neonatal CoA-affected heart specimen, using synchrotron radiation-based X-ray phase-contrast microcomputed tomography and histology, respectively. RESULTS: We included 30 fetuses with CoA and 60 gestational age-matched controls. Of these, 20 CoA neonates and 44 controls were also evaluated postnatally. Fetuses with CoA showed significant left-to-right volume redistribution, with right ventricular (RV) size and output dominance and significant geometry alterations with an abnormally elongated LV, compared with controls (LV midventricular sphericity index (median (interquartile range; IQR), 2.4 (2.0-2.7) vs 1.8 (1.7-2.0); P < 0.001). Biventricular function was preserved and no ventricular hypertrophy was observed. Synchrotron tomography and histological assessment revealed normal myocyte organization in the fetal and neonatal specimens, respectively. Postnatally, the LV in CoA cases showed prompt remodeling, becoming more globular (LV midventricular sphericity index (mean ± SD), 1.5 ± 0.3 in CoA vs 1.8 ± 0.2 in controls; P < 0.001) with preserved systolic and normalized output, but altered diastolic, parameters compared with controls (LV inflow peak velocity in early diastole (mean ± SD), 97.8 ± 14.5 vs 56.5 ± 12.9 cm/s; LV inflow peak velocity in atrial contraction (median (IQR), 70.5 (60.1-84.9) vs 47.0 (43.0-55.0) cm/s; LV peak myocardial velocity in atrial contraction (mean ± SD), 5.1 ± 2.6 vs 6.3 ± 2.2 cm/s; P < 0.05). The neonatal RV showed increased longitudinal function in the presence of a patent arterial duct. CONCLUSIONS: Our results suggest unique fetal cardiac remodeling in CoA, in which the LV stays smaller from the decreased growth stimulus of reduced volume load. Postnatally, the LV is acutely volume-loaded, resulting in an overall geometry change with higher filling velocities and preserved systolic function. These findings improve our understanding of the evolution of CoA from fetal to neonatal life. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.

Impact of prospective measurement of outflow tracts in prediction of coarctation of the aorta.

OBJECTIVES: Prenatal diagnosis of coarctation of the aorta (CoA) is associated with reduced mortality and morbidity, however, accurate prenatal prediction remains challenging. To date, studies have used retrospective measurements of the outflow tracts to evaluate their potential to predict CoA. Our primary objective was to evaluate prospectively acquired measurements of the outflow tracts in fetuses with prenatally suspected CoA. A secondary aim was to report the postnatal prevalence of bicuspid aortic valve in this cohort. METHODS: Pregnancies with suspicion of isolated CoA and with a minimum of 6 months' postnatal follow-up available were identified from the cardiac database of a tertiary fetal cardiology center in the UK, between January 2002 and December 2017. Measurement of the aortic valve, pulmonary valve, distal transverse aortic arch (DTAA) and arterial duct (AD) diameters were undertaken routinely in fetuses with suspected CoA during the study period. Z-scores were computed using published reference ranges based on > 7000 fetuses from our own unit. RESULTS: Of 149 pregnancies with prenatally suspected CoA included in the study, CoA was confirmed within 6 months after birth in 77/149 (51.7%) cases. DTAA diameter Z-score and the Z-score of second-trimester DTAA/AD diameter ratio were smaller in fetuses with postnatally confirmed CoA than those in false-positive cases (-2.8 vs -1.9; P = 0.039 and -3.13 vs -2.61; P = 0.005, respectively). Multiple regression analysis demonstrated that the Z-scores of DTAA and AD diameters were the only significant predictors of postnatal CoA (P = 0.001). Bicuspid aortic valve was identified in 30% of the false-positive cases. CONCLUSIONS: Measurement of DTAA and AD diameter Z-scores can be used to ascertain risk for postnatal CoA in a selected cohort. The high incidence of bicuspid aortic valve in false-positive cases merits further study with respect to both etiology and longer-term significance. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

The Diastolic and Systolic Velocity-Time Integral Ratio of the Aortic Isthmus Is a Sensitive Indicator of Aortic Coarctation in Fetuses.

BACKGROUND: Prenatal diagnosis of coarctation of the aorta (CoA) is challenging and is affected by high false-positive and false-negative rates. The aim of this study was to identify sonographic criteria to improve the identification of fetal CoA. METHODS: A retrospective review was conducted of subjects with prenatal suspicion for CoA who also had postnatal follow-up. Sixty-nine fetuses were identified with possible CoA, and 47 normal fetuses were selected as control subjects. Retrospective measurements of right ventricular/left ventricular ratio, pulmonary artery/aorta ratio, aortic isthmus (AOI) Z score, diastolic velocity-time integral (VTID), and systolic velocity-time integral (VTIS) at the AOI were recorded. Receiver operating characteristic curve analysis identified the parameter most predictive of postnatal CoA. RESULTS: When comparing subjects with (n = 31) and without (n = 38) CoA, significant differences were detected for the AOI Z score, VTID, VTID/VTIS ratio, and VTID/(VTID + VTIS) ratio (P < .001). The areas under the receiver operating characteristic curve were 0.92, 0.92, 0.78, 0.74, 0.71, and 0.68 for the VTID/VTIS ratio, VTID/(VTID + VTIS) ratio, VTID, AOI Z score (sagittal view), AOI Z score (three-vessel tracheal view), and pulmonary artery/aorta ratio, respectively. There was a 25% (95% CI, 14%-35%) improvement in the area under the curve after adding the VTID/VTIS ratio to the basic model (AOI Z score [sagittal view]), and this ratio (after transformation) showed significantly better discrimination and reclassification ability for determining CoA. The pulmonary artery/aorta ratio, VTID, VTID/VTIS ratio, and VTID/(VTID + VTIS) ratio were stable throughout the normal fetal developmental period in this study. CONCLUSIONS: In cases with suspected prenatal diagnosis of CoA, evaluation of spectral Doppler measurements, such as the VTID/VTIS ratio, may enhance the accuracy of diagnosis with fetal echocardiography.

How often an isolated cardiac disproportion predicts a coarctation of the aorta? Single center experience and systematic review of the literature.

BACKGROUND: Cardiac disproportion is considered as an indirect sign of coarctation of the aorta (CoA). In this review, we have reassessed the positive predictive value (PPV) of such finding for a postnatal confirmation of CoA. DATA SOURCES: All cases of isolated cardiac disproportion diagnosed in the four-chamber and/or three-vessel/three-vessel and trachea views (right/left sections >1.5) were included. Postnatal cardiac findings were recorded. Additionally, a systematic literature search (PubMed, EMBASE, Cochrane library, and the reference lists of identified articles) regarding the association between antenatally detected cardiac disproportion and postnatal confirmation of CoA was performed. Data from our center were pooled with those derived from the literature. RESULTS: Ten fetuses with isolated cardiac disproportion were selected from our center and 259 from the literature review. CoA was postnatally confirmed in 101/269 (PPV 38%). PPV of antenatal cardiac findings was significantly higher in earlier gestation (23/27, 85% <26+0 weeks versus 11/39, 28%≥26+0 weeks, p < .001). No significant difference was noticed comparing ventricular disproportion with combined ventricular and great vessels disproportion (86/230 versus 15/39, p .89). DISCUSSION: Isolated cardiac disproportion has an overall chance of one in three of heralding a CoA in the neonate. The specificity of these findings is significantly higher in the second trimester.

Is retrograde blood flow of aortic isthmus useful for the prenatal screening of coarctation of the aorta by fetal color Doppler echocardiography? A preliminary study.

PURPOSE: To validate the relationship between retrograde blood flow in the aortic isthmus (AoI-R) by color Doppler in fetal echocardiography and postnatal coarctation of the aorta (CoA) diagnosed as isthmus narrowing. METHODS: This was a retrospective study of 22 cases of prenatally suspected simple CoA or CoA with small ventricular septum defect based on fetal echocardiography performed by pediatric cardiologists in our hospital. Gestational age at the first detection of AoI-R and the optimal cut-off value for the prediction of postnatal CoA were mainly evaluated according to the postnatal diagnosis of CoA. RESULTS: All 22 cases had AoI-R prenatally, and nine of them (40.9%) had isthmus narrowing and were diagnosed as having CoA immediately after birth. The gestational age at the first detection of AoI-R was significantly lower in cases with postnatal CoA than in those without (average 34.4 weeks; P = 0.034). The cut-off value for the prediction of postnatal CoA was 35.5 weeks of gestation, with a sensitivity and specificity of 77.8 and 69.2%, respectively. CONCLUSION: AoI-R determined by color Doppler echocardiography can become a useful tool in the screening of fetal CoA, especially at < 35 weeks of gestation.

Prenatal Sonographic Predictors of Neonatal Coarctation of the Aorta.

OBJECTIVES: To identify practical prenatal sonographic markers for the postnatal diagnosis of coarctation of the aorta. METHODS: We reviewed the fetal echocardiograms and postnatal outcomes of fetal cases of suspected coarctation of the aorta seen at a single institution between 2010 and 2014. True- and false-positive cases were compared. Logistic regression analysis was used to determine echocardiographic predictors of coarctation of the aorta. Optimal cutoffs for these markers and a multivariable threshold scoring system were derived to discriminate fetuses with coarctation of the aorta from those without coarctation of the aorta. RESULTS: Among 35 patients with prenatal suspicion of coarctation of the aorta, the diagnosis was confirmed postnatally in 9 neonates (25.7% true-positive rate). Significant predictors identified from multivariate analysis were as follows: Z score for the ascending aorta diameter of -2 or less (P = < .001), Z score for the mitral valve annulus of -2 or less (P= .033), Zscore for the transverse aortic arch diameter of -2 or less (P= .028), and abnormal aortic valve morphologic features (P= .026). Among all variables studied, the ascending aortic Z score had the highest sensitivity (78%) and specificity (92%) for detection of coarctation of the aorta. A multivariable threshold scoring system identified fetuses with coarctation of the aorta with still greater sensitivity (89%) and only mildly decreased specificity (88%). CONCLUSIONS: The finding of a diminutive ascending aorta represents a powerful and practical prenatal predictor of neonatal coarctation of the aorta. A multivariable scoring system, including dimensions of the ascending and transverse aortas, mitral valve annulus, and morphologic features of the aortic valve, provides excellent sensitivity and specificity. The use of these practical sonographic markers may improve prenatal detection of coarctation of the aorta.

Multimodality imaging of aortic coarctation: From the fetus to the adolescent.

Aortic coarctation is a local narrowing of the aortic lumen, which is located at the level of the isthmus in 95% of patients. Aortic coarctation accounts for 5 to 8% of all congenital heart diseases. It may have an acute presentation in the form of heart failure in the neonate or may be discovered incidentally in adult because of severe treatment-resistant hypertension. Ultrasound may reveal the presence of aortic coarctation during the antenatal period. In this situation, associated abnormalities should be investigated (including karyotype), because they influence prognosis and indicates whether or not the birth should occur in a center with pediatric cardiology expertise. Postnatally, ultrasound and chest radiography are the basic imaging work-up. Computed tomography is often the second line imaging investigation in infants and young children for whom magnetic resonance imaging fails to confirm the diagnosis. Magnetic resonance imaging with cardiac synchronization is the preferred imaging tool in the post-treatment period. Aortic coarctation may be treated surgically or by endovascular techniques. Potential complications should be searched for using ultrasound and magnetic resonance imaging.

PHACE syndrome--clinical features, aetiology and management.

UNLABELLED: PHACE syndrome comprises a spectrum of anomalies including posterior fossa malformations, haemangioma, arterial anomalies, cardiac defects and eye anomalies. PHACE should be considered in any patient with a large facial segmental infantile haemangioma (IH), and multidisciplinary management is crucial. Low-dose propranolol is effectively for the treatment of IH associated with PHACE syndrome. Recent evidence suggests IH is comprised of mesoderm-derived haemogenic endothelium. CONCLUSION: The embryonic developmental anomaly nature of IH provides an insight into the origin of PHACE syndrome.

Prenatal diagnosis of left ventricular diverticulum and coarctation of the aorta.

Congenital left ventricular diverticulum (LVD) is a rare abnormality of the myocardium which has been detected previously in the fetus. Lesions have been reported from as early as 12 weeks' gestation but are more commonly detected in the mid-second trimester. Fetal presentation of LVD ranges from an abnormal four-chamber view of the heart, arrhythmia or isolated pericardial effusion to fetal hydrops with associated heart failure. Here, we describe the prenatal diagnosis of an infant with LVD originating from the left ventricular outflow tract associated with coarctation of the aorta. The diagnosis was confirmed postnatally by two-dimensional echocardiography and cardiac magnetic resonance imaging. We hypothesize that the lesion compromised antegrade flow into the transverse aortic arch, which may have contributed to underdevelopment of the aortic arch and subsequently the development of coarctation of the aorta. This is a unique case of LVD and coarctation of the aorta.

Importance of Relationship between Ductus and Isthmus in Fetal Diagnosis of Coarctation of Aorta.

BACKGROUND: The prenatal diagnosis of coarctation of aorta (CoA) can prove problematic, with relatively high false-positive and false-negative rates. This significantly impacts both prenatal counseling and postnatal management. We sought to evaluate a variety of prenatal echo indices to determine which would best predict neonatal CoA. METHODS: Fetal echocardiograms of those with prenatal diagnosis of COA were analyzed for the following: diameter of cardiac valves, ascending aorta, distal transverse arch, aortic isthmus, and ductus; right (RV) and left ventricular (LV) length and end-diastolic area and isthmus-ductal angle (IDA). Ratios of RV: LV area, aortic: pulmonary valve diameter, mitral: tricuspid valve ratio (MV:TV ratio), and isthmus: ductal diameter (IDD) were calculated. These measures were compared between those with CoA after birth (CoA group) and those without (no CoA group). RESULTS: Of the 62 subjects, 27 were in CoA and 35 in no CoA group. CoA group had a significantly smaller mitral valve, MV:TV ratio, IDD, and IDA compared to no CoA group. The ROC curves for each of these significant measures showed that mitral valve, IDD, and IDA had an AUC of 0.72, 0.80, and 0.83, respectively. Multiple variable model using at least two of these measures had 85% sensitivity and 60% specificity. CONCLUSIONS: A smaller mitral valve, MV:TV ratio, IDD, and IDA are associated with development of neonatal coarctation. In cases with suspected prenatal diagnosis of CoA, careful evaluation of the relation between the isthmus and the ductus arteriosus using IDD and IDA may enhance the diagnostic accuracy of fetal echocardiograms.

Single arterial trunk arising from the aortic arch with aortic coarctation. Report of a case. Embryological considerations.

Abnormalities of the aortic arch occur mainly due to an abnormal development of the fourth aortic arch in the first 12 weeks of fetal life. These abnormalities may be asymptomatic for a long period, or can develop clinically when vascular rings surround the trachea and esophagus and cause tracheal and/or esophageal obstruction. We present the case of a full-term newborn baby, male. The pregnancy had no medical surveillance from a family physician or an obstetrical. After five days of age, the infant died due to severe malformations, incompatible with life, respectively due to single arterial trunk and aorta coarctation. In the literature, there have been cited several other cases similar to our case; however, this one remains an extremely rare anomaly. We believe that the abnormality is due to a regression on an abnormal site of the fourth left aortic arch, but due to the very small number of these anomalies reported so far, we cannot say with certainty if there is an embryologic reason for these abnormalities.

Sonographic predictors of surgery in fetal coarctation of the aorta.

OBJECTIVES: Isolated fetal coarctation of the aorta (CoA) has high false-positive diagnostic rates by cardiologists in tertiary centers. Isthmal diameter Z-scores (I), ratio of isthmus to duct diameters (I:D), and visualization of CoA shelf (Shelf) and isthmal flow disturbance (Flow) distinguish hypoplastic from normal aortic arches in retrospective studies, but their ability to predict a need for perinatal surgery is unknown. The aim of this study was to determine whether these four sonographic features could differentiate prenatally cases which would require neonatal surgery in a prospective cohort diagnosed with CoA by a cardiologist. METHODS: From 83 referrals with cardiac disproportion (January 2006 to August 2010), we identified 37 consecutive fetuses diagnosed with CoA. Measurements of I and I:D were made and the presence of Shelf or Flow recorded. Sensitivity, specificity and areas under receiver-operating characteristics curves, using previously reported limits of I < - 2 and I:D < 0.74, as well as Shelf and Flow were compared at first and final scan. Associations between surgery and predictors were compared using multivariable logistic regression and changes in measurements using ANCOVA. RESULTS: Among the 37 fetuses, 30 (81.1%) required surgery and two with an initial diagnosis of CoA were revised to normal following isthmal growth, giving an 86% diagnostic accuracy at term. The median age at first scan was 22.4 (range. 16.6-7.0) weeks and the median number of scans per fetus was three (range, one to five). I < - 2 at final scan was the most powerful predictor (odds ratio, 3.6 (95% CI, 0.47-27.3)). Shelf was identified in 66% and Flow in 50% of fetuses with CoA. CONCLUSION: Incorporation of these four sonographic parameters in the assessment of fetuses with suspected CoA at a tertiary center resulted in better diagnostic precision regarding which cases would require neonatal surgery than has been reported previously.

Coarctation of the aorta: from fetal life to adulthood.

Coarctation of the aorta was once viewed as a simple discrete narrowing of the aortic isthmus that could be 'cured' by surgical intervention. It is now clear that this condition may: (1) affect the aortic arch in a highly variable manner; (2) be associated with a host of other left sided heart lesions; (3) represent a wider vasculopathy within the pre-coarctation arterial tree, leading to significant prevalence of hypertension by adolescence, and subsequent risk of early morbidity and death. This review outlines the evaluation and treatment of this disease from pre-natal to adult life.