The Pediatric Heart Network is conducting a large international randomized trial to compare aortic root growth and other cardiovascular outcomes in 608 subjects with Marfan syndrome randomized to ...receive atenolol or losartan for 3 years. The authors report here the echocardiographic methods and baseline echocardiographic characteristics of the randomized subjects, describe the interobserver agreement of aortic measurements, and identify factors influencing agreement.
Individuals aged 6 months to 25 years who met the original Ghent criteria and had body surface area-adjusted maximum aortic root diameter (ROOTmax) Z scores > 3 were eligible for inclusion. The primary outcome measure for the trial is the change over time in ROOTmaxZ score. A detailed echocardiographic protocol was established and implemented across 22 centers, with an extensive training and quality review process.
Interobserver agreement for the aortic measurements was excellent, with intraclass correlation coefficients ranging from 0.921 to 0.989. Lower interobserver percentage error in ROOTmax measurements was independently associated (model R(2) = 0.15) with better image quality (P = .002) and later study reading date (P < .001). Echocardiographic characteristics of the randomized subjects did not differ by treatment arm. Subjects with ROOTmaxZ scores ≥ 4.5 (36%) were more likely to have mitral valve prolapse and dilation of the main pulmonary artery and left ventricle, but there were no differences in aortic regurgitation, aortic stiffness indices, mitral regurgitation, or left ventricular function compared with subjects with ROOTmaxZ scores < 4.5.
The echocardiographic methodology, training, and quality review process resulted in a robust evaluation of aortic root dimensions, with excellent reproducibility.
Limited data exist on the impact of prenatal diagnosis and outcomes of fetal truncus arteriosus (TA). We sought to assess prenatal diagnostic accuracy and prenatal outcomes in fetuses with TA and ...compare postnatal outcomes in neonates with prenatally and postnatally diagnosed TA. Records were reviewed for patients diagnosed with TA in utero or at ≤60 days of life from 1992 to 2007. Forty-three (32%) of 136 TA patients had prenatal diagnosis. Five patients with TA were prenatally misdiagnosed, and 5 with other congenital heart diseases were misdiagnosed with TA prenatally. Of 28 fetuses diagnosed at <24 weeks gestation, 19 (68%) did not survive to birth because of spontaneous fetal death (
n
= 2) or because of elective termination (
n
= 17). Pregnancy termination was not more likely for fetuses with extracardiac anomalies. Of 19 live-born patients with correct prenatal diagnosis of TA, 2 (11%) died before surgery, and 4 (24%) died in the early postoperative period. All patients who died presurgically had been diagnosed prenatally. Overall, early postoperative mortality was 10%. Prenatal diagnosis of TA remains challenging and is associated with a high rate of elective termination. Fetal diagnosis was associated with younger age at repair but was not associated with improved neonatal survival.
Use of non-invasive peripheral arterial tonometry to assess arterial stiffness has not been studied in neonates. Perinatal factors impact childhood vascular health, but the effect in neonates remains ...to be examined.
To examine the feasibility of pulse wave velocity (PWV) among healthy term neonates, and to evaluate the effects of perinatal factors on neonatal PWV.
Pregnant women with singleton gestation presenting for routine care were enrolled. Postnatally, PWV measurements of their neonates were obtained using an arterial tonometer. A variability index was calculated for each PWV measurement. Intra- and inter-observer reproducibility were illustrated with Bland-Altman plots. Medical records were reviewed. Relationships between neonatal PWV and perinatal factors were examined.
PWV measurements were attempted in 76 neonates and successfully obtained in 67 (88%). Using PWV measurements with a variability index ≤ 0.25 (48 neonates), the intra-class coefficient was 0.69. The mean differences (limits of agreement) for intra- and inter-rater reproducibility were 0.02 (-3.64 to 3.60) and 0.34 (-2.23 to 2.39), respectively. Median neonatal PWV was 2.80 m/s (range 0.60-8.40). Neonates of mothers with HgbA1c ≥6% had significantly higher PWV than neonates of mothers with HgbA1c <6% (4.12 m/s, 95% CI 3.22-5.02, vs. 2.78 m/s, 95% CI 2.28-3.28, p = 0.02).
Neonatal PWV using peripheral arterial tonometry is feasible and reproducible when using measurements with a variability index ≤ 0.25. Neonates of mothers with increased HgbA1c had higher PWV, suggesting an effect of maternal hyperglycemia on neonatal vasculature. The long-term implications of this finding warrant further investigation.
Purpose:
Truncus arteriosus is a complex and heterogeneous form of congenital heart defect. Many of the risk factors from several decades ago, including late repair and interrupted aortic arch, have ...been mitigated through better understanding of the entity and improved surgical techniques. However, truncal valve dysfunction remains an important cause of morbidity and mortality. The purpose of this study was to evaluate the anatomic factors associated with truncal valve dysfunction and the need for truncal valve surgery.
Methods:
This was a retrospective review of 72 infants who underwent repair of truncus arteriosus at our institution. The median age at surgery was nine days, and the median weight was 3.1 kg. Preoperative assessment of truncal valve insufficiency by echocardiography revealed no or trace insufficiency in 30, mild in 25, moderate in 10, and severe in 7. The need for truncal valve surgery was dictated by the severity of truncal valve insufficiency.
Results:
Sixteen (22%) of the 72 patients undergoing truncus arteriosus repair had concomitant truncal valve surgery. Anatomic factors associated with the need for truncal valve surgery included an abnormal number of truncal valve cusps (P < .005), presence of valve dysplasia (P < .005), and the presence of an anomalous coronary artery pattern (P < .005). Fifteen (94%) of the sixteen patients who underwent concomitant surgery had two or all three of these anatomic factors (sensitivity = 94%, specificity = 85%).
Conclusion:
This study demonstrates that the presence of specific anatomic factors was closely associated with the presence of truncal valve insufficiency and the need for concomitant truncal valve surgery. Preoperative evaluation of these anatomic factors may provide a useful tool in determining who should undergo concomitant truncal valve surgery.
We report a unique case of tricuspid and pulmonary atresia with idiopathic progressive ductus arteriosus restriction in utero. Diligent predelivery planning and a controlled delivery environment led ...to a favorable outcome.
BACKGROUND—Ebstein anomaly and tricuspid valve dysplasia are rare congenital tricuspid valve malformations associated with high perinatal mortality. The literature consists of small, single-center ...case series spanning several decades. We performed a multicenter study to assess the outcomes and factors associated with mortality after fetal diagnosis in the current era.
METHODS AND RESULTS—Fetuses diagnosed with Ebstein anomaly and tricuspid valve dysplasia from 2005 to 2011 were included from 23 centers. The primary outcome was perinatal mortality, defined as fetal demise or death before neonatal discharge. Of 243 fetuses diagnosed at a mean gestational age of 27±6 weeks, there were 11 lost to follow-up (5%), 15 terminations (6%), and 41 demises (17%). In the live-born cohort of 176 live-born patients, 56 (32%) died before discharge, yielding an overall perinatal mortality of 45%. Independent predictors of mortality at the time of diagnosis were gestational age <32 weeks (odds ratio, 8.6; 95% confidence interval, 3.5–21.0; P<0.001), tricuspid valve annulus diameter z-score (odds ratio, 1.3; 95% confidence interval, 1.1–1.5; P<0.001), pulmonary regurgitation (odds ratio, 2.9; 95% confidence interval, 1.4–6.2; P<0.001), and a pericardial effusion (odds ratio, 2.5; 95% confidence interval, 1.1–6.0; P=0.04). Nonsurvivors were more likely to have pulmonary regurgitation at any gestational age (61% versus 34%; P<0.001), and lower gestational age and weight at birth (35 versus 37 weeks; 2.5 versus 3.0 kg; both P<0.001).
CONCLUSION—In this large, contemporary series of fetuses with Ebstein anomaly and tricuspid valve dysplasia, perinatal mortality remained high. Fetuses with pulmonary regurgitation, indicating circular shunt physiology, are a high-risk cohort and may benefit from more innovative therapeutic approaches to improve survival.
Multisystem inflammatory syndrome in children (MIS-C) has emerged as a rare delayed hyperinflammatory response to SARS-CoV-2 infection and causes severe morbidity in the pediatric age group. Although ...MIS-C shares many clinical similarities to Kawasaki disease (KD), important differences in epidemiologic, clinical, immunologic, and potentially genetic factors exist and suggest potential differences in pathophysiology and points to be explored and explained. Epidemiologic features include male predominance, peak age of 6 to12 years, and specific racial or ethnicity predilections. MIS-C is characterized by fever, prominent gastrointestinal symptoms, mucocutaneous manifestations, respiratory symptoms, and neurologic complaints, and patients often present with shock. Cardiac complications are frequent and include ventricular dysfunction, valvular regurgitation, pericardial effusion, coronary artery dilation and aneurysms, conduction abnormalities, and arrhythmias. Emerging evidence regarding potential immunologic mechanisms suggest that an exaggerated T-cell response to a superantigen on the SARS-CoV-2 spike glycoprotein—as well as the formation of autoantibodies against cardiovascular, gastrointestinal, and endothelial antigens—are major contributors to the inflammatory milieu of MIS-C. Further studies are needed to determine both shared and distinct immunologic pathway(s) that underlie the pathogenesis of MIS-C vs both acute SARS-CoV-2 infection and KD. There is evidence to suggest that the rare risk of more benign mRNA vaccine-associated myopericarditis is outweighed by a reduced risk of more severe MIS-C. In the current review, we synthesize the published literature to describe associated factors and potential mechanisms regarding an increased risk of MIS-C and cardiac complications, provide insights into the underlying immunologic pathophysiology, and define similarities and differences with KD.
Le syndrome inflammatoire multisystémique de l’enfant (SIME) qui s’est révélé une réponse hyperinflammatoire tardive rare à l’infection SRAS-CoV-2 cause une morbidité grave chez les enfants. Bien que le SIME ait en commun plusieurs similarités cliniques avec la maladie de Kawasaki (MK), d’importantes différences dans les facteurs épidémiologiques, cliniques, immunologiques et potentiellement génétiques existent et suggèrent des différences potentielles dans la physiopathologie, et des points à explorer et à expliciter. Les caractéristiques épidémiologiques sont les suivantes : la prédominance masculine, le groupe d’âge le plus touché (de 6 à 12 ans), et les prédispositions raciales et ethniques particulières. Le SIME est caractérisé par de la fièvre, des symptômes gastro-intestinaux marqués, des manifestations mucocutanées, des symptômes respiratoires et des plaintes neurologiques, et les patients sont souvent en état de choc. Les complications cardiaques fréquentes sont les suivantes : la dysfonction ventriculaire, la régurgitation valvulaire, l’épanchement péricardique, la dilatation coronaire et les anévrismes, les anomalies de conduction et les arythmies. De nouvelles données probantes en ce qui concerne les mécanismes immunologiques potentiels suggèrent que la réponse excessive des cellules T à un superantigène sur la glycoprotéine spiculaire du SRAS-CoV-2 ainsi que la formation des autoanticorps contre les antigènes cardiovasculaires, gastro-intestinaux et endothéliaux sont les principaux facteurs qui contribuent au milieu inflammatoire du SIME. D’autres études sont nécessaires pour déterminer la ou les voies immunologiques partagées et distinctes qui sous-tendent la pathogenèse du SIME vs l’infection SRAS-CoV-2 et la MK. Des données probantes suggèrent que le rare risque de myopéricardite plus bénigne associée au vaccin à ARNm l’emporte sur la réduction du risque d’un SIME plus grave. Dans la présente revue, nous faisons la synthèse de la littérature publiée afin de décrire les facteurs associés et les mécanismes potentiels en ce qui concerne le risque accru de SIME et de complications cardiaques, donnons un aperçu de la physiopathologie immunologique sous-jacente et définissions les similarités et les différences avec la MK.
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