Coarctation of the aorta (CoA) is the most common ductal-dependent lesion missed on neonatal exam screening. Prenatal diagnosis of CoA improves outcomes through early initiation of prostaglandin. Fetal echocardiographic parameters including 2D and Doppler findings have been studied as predictive measures for fetal diagnosis of CoA, but diagnosis rates remain variable. A comprehensive set of predictor variables was applied to fetuses suspected of CoA to analyze which parameters were associated with postnatal CoA. UCSF Fetal Cardiovascular Program databases were queried for fetuses suspected of CoA (2008-2014). Retrospective measurements of aorta/pulmonary artery ratio (AoPA), LV/RV ratio, ascending aorta Z-score (AscAo), isthmus Z-score, isthmus/duct ratio (I/D), posterior "shelf" of descending aorta, and diastolic flow persistence at the isthmus were recorded. ROC analysis identified the parameters most predictive of postnatal CoA. Among 97 fetuses with probable CoA, 62 had complete follow-up. Of these fetuses, 45 (72.5%) had postnatal confirmation of CoA and 17 did not have CoA. The parameters most predictive of postnatal CoA included AscAo, isthmus Z-score, and I/D, with respective AUC of 0.80, 0.89, and 0.90. Diastolic flow persistence was seen more often in fetuses with postnatal CoA, but did not reach statistical significance. Combining 2D and Doppler criteria (AoPA < 0.65 or diastolic flow persistence) improved sensitivity to 87%, but introduced several false positives. Isthmus imaging and AoPA ratio are useful predictors of CoA. Doppler information was most helpful when 2D imaging was equivocal; its addition resulted in high sensitivity in an enriched cohort referred for fetal echocardiography.
BACKGROUND: We aimed to examine clinical features, and outcomes of consecutive molecularly characterized patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy. METHODS: A retrospective, longitudinal multicenter cohort of consecutive children and adults with a genetic diagnosis of Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy between 2002 and 2019 was assembled. We defined a priori 3 different patterns of left ventricular remodeling during follow-up: (1) an increase in ≥15% of the maximal left ventricular wall thickness (MLVWT), both in mm and z -score (progression); (2) a reduction ≥15% of the MLVWT, both in mm and z -score (absolute regression); (3) a reduction ≥15% of the MLVWT z -score with a stable MLVWT in mm (relative regression). The primary study end point was a composite of cardiovascular death, heart transplantation, and appropriate implantable cardioverter defibrillator-shock. RESULTS: The cohort comprised 42 patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy, with a median age at diagnosis of 3.5 (interquartile range, 0.2–12.3) years. Freedom from primary end point was 92.7% (95% CI, 84.7%–100%) 1 year after presentation and 80.9% (95% CI, 70.1%–90.7%) at 5 years. Patients with MLVWT z -score >13.7 showed reduced survival compared with those with <13.7. During a median follow-up of 3.7 years (interquartile range, 2.6–7.9), absolute regression was the most common type of left ventricular remodeling (n=9, 31%), followed by progression (n=6, 21%), and relative regression (n=6, 21%). CONCLUSIONS: These findings provide insights into the natural history of left ventricular hypertrophy, and can help inform clinicians regarding risk stratification and clinical outcomes in patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy.
Objectives: Fetal aortic valvuloplasty (FAV) for severe aortic stenosis (AS) has shown promise in averting progression to hypoplastic left heart syndrome. After FAV, predicting which fetuses will achieve a biventricular (BiV) circulation after birth remains challenging. Identifying predictors of postnatal circulation on late gestation echocardiography will improve parental counseling. Methods: Liveborn patients who underwent FAV and had late gestation echocardiography available were included (2000-2017, n ¼ 96). Multivariable logistic regression and classification and regression tree analysis were utilized to identify independent predictors of BiV circulation. Results: Among 96 fetuses, 50 (52.1%) had BiV circulation at the time of neonatal discharge. In multivariable analysis, independent predictors of biventricular circulation included left ventricular (LV) long axis z-score (OR 3.2, 95% CI 1.8-5.7, p < 0.001), LV ejection fraction (OR 1.3, 95% CI 1.0-1.8, p ¼ 0.023), anterograde aortic arch flow (OR 5.0, 95% CI 1.2-20.4, p ¼ 0.024), and bidirectional or right-toleft foramen ovale flow (OR 4.6, 95% CI 1.4-15.8, p ¼ 0.015). Conclusion: Several anatomic and physiologic parameters in late gestation were found to be independent predictors of BiV circulation after FAV. Identifying these predictors adds to our understanding of LV growth and hemodynamics after FAV and may improve parental counseling. Key Points What's already known about this topic? � Midgestation fetuses with aortic stenosis often progress to hypoplastic left heart syndrome by birth, requiring single ventricle palliation � Fetal aortic valvuloplasty has the potential to improve fetal left heart growth and increase the likelihood of achieving postnatal biventricular circulation What does this study add? � Our study identifies late gestation predictors of postnatal biventricular circulation after fetal aortic valvuloplasty, including left ventricular long axis dimension z-score, left
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