Feasibility, reproducibility, and accuracy of echocardiographic right ventricular systolic function assessments in childhood cancer survivors at risk for heart failure.

PURPOSE: We sought to assess the feasibility, reproducibility, and accuracy of conventional and newer echocardiographic measures of right ventricular (RV) systolic function in adolescent and young adult childhood cancer survivors treated with anthracyclines. METHODS: Echocardiography and cardiac magnetic resonance imaging (CMR) were acquired ≤60 days apart in prospectively recruited survivors and RV functional measures were quantitated by blinded observers. Repeat quantitation was performed in a subset to evaluate reproducibility. For each echocardiographic measure, Spearman correlations with CMR measures were calculated, and values in participants with CMR RV ejection fraction (RVEF) ≥48% and RVEF <48% were compared using two sample Wilcoxon rank-sum tests. RESULTS: Among 58 participants, mean age was 18.2 years (range 13.1-25.2) and five participants had CMR RVEF <48%. Intra- and inter-observer coefficients of variation were 8.2%-10.1% and 10.5%-12.0% for adjusted automated strain measures, and 5.2%-8.7% and 2.7% for 3D RVEF, respectively. No echocardiographic measures were significantly correlated with CMR RVEF; only tricuspid annular plane systolic excursion was correlated with CMR RV stroke volume (r = .392, p = .003). Participants with RV dysfunction had worse automated global longitudinal strain (-20.3% vs. -23.9%, p = .007) and free wall longitudinal strain (-23.7% vs. -26.7%, p = .09). CONCLUSIONS: Echocardiographic strain and 3D RV function measurements were feasible and reproducible in at-risk childhood cancer survivors. Although not associated with CMR RVEF in this population with predominantly normal RV function, automated strain measurements were more abnormal in participants with RV dysfunction, suggesting potential clinical utility of these measures.

Prenatal Diagnosis Rate of Critical Congenital Heart Disease Remains Inadequate with Significant Racial/Ethnic and Socioeconomic Disparities and Technical Barriers.

Prenatal diagnosis (preDx) of critical congenital heart disease (CCHD) decreases neonatal morbidity and mortality. Obstetrical fetal cardiac imaging guidelines in 2013 aimed to increase preDx. The objectives of this study were to determine the contemporary preDx rate of CCHD and identify maternal-fetal factors and variations in prenatal care that may be potential barriers. This retrospective single center study evaluated maternal demographics and characteristics of infants with CCHD (requiring cardiac catheterization or surgical intervention before 6 months-old) between 2016 and 2019. 58% of the 339 infants with CCHD had preDx. Infants with preDx were more likely to have mothers ≥ 35 years-old (p = 0.028), family history of CHD (p = 0.017), health insurance (p = 0.002), or anatomic scan with perinatology (p < 0.001). Hispanic infants were less likely to have preDx (45.6%, p = 0.005). PreDx rates were higher in infants with extracardiac/genetic anomalies (p < 0.001) and significantly different between CCHD subtypes (76% for single ventricle, 51% for biventricular/four-chamber view, 59% for proximal outflow tract anomalies, and 48% for distal great artery anomalies; p = 0.024). In infants without preDx, 25% of their mothers had indication for, but did not undergo, fetal echocardiography. PreDx rates of CCHD remains inadequate across subtypes detectable by standard fetal cardiac screening views, particularly in uninsured and Hispanic communities.

Early identification of SOX17 deficiency in infants to guide management of heritable pulmonary arterial hypertension using PDA stent to create reverse Potts shunt physiology.

Heritable pulmonary arterial hypertension (HPAH) is a rare progressive condition that includes patients with an identified genetic cause of pulmonary arterial hypertension (PAH). HPAH and idiopathic PAH (IPAH) have an estimated combined incidence of 0.5-0.9 cases per million children-years. Several pathogenic variants have been associated with HPAH in children and adults, including genes BMPR2, TBX4, and ACVRL1, and more rarely with variants in genes such as SOX17. HPAH is often difficult to manage and has poor prognosis despite advances in medical therapy with many patients progressing to lung transplantation, right heart failure and death. Surgical and transcatheter Potts shunt creation can reduce systolic burden and has shown reduction in morbidity and mortality in children. Early genetic testing can provide both diagnostic and prognostic value in managing and counseling children with severe PAH and it can guide transcatheter or surgical management in refractory cases despite maximal medical therapies. We describe a patient with HPAH (SOX17 mutation) who underwent percutaneous patent ductus arteriosus stent for right ventricle decompression at 2 months of age with clinical management guidance by genetic testing results.