Integrated Clinical and Magnetic Resonance Imaging Assessments Late After Fontan Operation

BACKGROUND Several clinical and cardiac magnetic resonance (CMR)-derived parameters have been shown to be associated with death or heart transplant late after the Fontan operation. OBJECTIVES The objective of this study was to identify the relative importance and interactions of clinical and CMR-based parameters for risk stratification after the Fontan operation. METHODS Fontan patients were retrospectively reviewed. Clinical and CMR parameters were analyzed using univariable Cox regression. The primary endpoint was time to death or (listing for) heart transplant. To identify the patients at highest risk for the endpoint, classification and regression tree survival analysis was performed, including all significant variables from Cox regression. RESULTS The cohort consisted of 416 patients (62% male) with a median age of 16 years (25th, 75th percentiles: 11, 23 years). Over a median follow-up of 5.4 years (25th, 75th percentiles: 2.4, 10.0 years) after CMR, 57 patients (14%) reached the endpoint (46 deaths, 7 heart transplants, 4 heart transplant listings). Lower total indexed end-diastolic volume (EDVi) was the strongest predictor of transplant-free survival. Among patients with dilated ventricles (EDVi >= 156 ml/BSA(1.3)), worse global circumferential strain (GCS) was the next most important predictor (73% vs. 44%). In patients with smaller ventricles (EDVi = II was the next most important predictor (30% vs. 4%). CONCLUSIONS In this cohort of patients late after Fontan operation, increased ventricular dilation was the strongest independent predictor of death or transplant (listing). Patients with both ventricular dilation and worse GCS were at highest risk. These data highlight the value of integrating CMR and clinical parameters for risk stratification in this population. (C) 2021 by the American College of Cardiology Foundation

A Deep Learning Pipeline for Assessing Ventricular Volumes from a Cardiac Magnetic Resonance Image Registry of Single Ventricle Patients

Purpose: To develop an end-to-end deep learning (DL) pipeline for automated ventricular segmentation of cardiac MRI data from a multicenter registry of patients with Fontan circulation (FORCE). / Materials and Methods: This retrospective study used 250 cardiac MRI examinations (November 2007–December 2022) from 13 institutions for training, validation, and testing. The pipeline contained three DL models: a classifier to identify short-axis cine stacks and two UNet 3+ models for image cropping and segmentation. The automated segmentations were evaluated on the test set (n = 50) using the Dice score. Volumetric and functional metrics derived from DL and ground truth manual segmentations were compared using Bland-Altman and intraclass correlation analysis. The pipeline was further qualitatively evaluated on 475 unseen examinations. / Results: There were acceptable limits of agreement (LOA) and minimal biases between the ground truth and DL end-diastolic volume (EDV) (Bias: -0.6 mL/m2, LOA: -20.6–19.5 mL/m2), and end-systolic volume (ESV) (Bias: - 1.1 mL/m2, LOA: -18.1–15.9 mL/m2), with high intraclass correlation coefficients (ICC > 0.97) and Dice scores (EDV, 0.91 and ESV, 0.86). There was moderate agreement for ventricular mass (Bias: -1.9 g/m2, LOA: -17.3–13.5 g/m2) and a ICC (0.94). There was also acceptable agreement for stroke volume (Bias:0.6 mL/m2, LOA: -17.2–18.3 mL/m2) and ejection fraction (Bias:0.6%, LOA: -12.2%–13.4%), with high ICCs (> 0.81). The pipeline achieved satisfactory segmentation in 68% of the 475 unseen examinations, while 26% needed minor adjustments, 5% needed major adjustments, and in 0.4%, the cropping model failed. / Conclusion: The DL pipeline can provide fast standardized segmentation for patients with single ventricle physiology across multiple centers. This pipeline can be applied to all cardiac MRI examinations in the FORCE registry

Atrial function in Fontan patients assessed by CMR: Relation with exercise capacity and long-term outcomes

Objective: To assess the role of atrial function on exercise capacity and clinical events in Fontan patients. Design: We included 96 Fontan patients from 6 tertiary centers, aged 12.8 (IQR 10.1–15.6) years, who underwent cardiac magnetic resonance imaging and cardiopulmonary exercise testing within 12 months of each other from 2004 to 2017. Intra-atrial lateral tunnel (ILT) and extracardiac conduit (ECC) patients were matched 1:1 with regard to age, gender and dominant ventricle. The pulmonary venous atrium was manually segmented in all phases and slices. Atrial function was assessed by volume-time curves. Furthermore, atrial longitudinal and circumferential feature tracking strain was assessed. We determined the relation between atrial function and exercise capacity, assessed by peak oxygen uptake and VE/VCO2 slope, and events (mortality, listing for transplant, re-intervention, arrhythmia) during follow-up. Results: Atrial maximal and minimal volumes did not differ between ILT and ECC patients. ECC patients had higher reservoir function (21.1 [16.4–28.0]% vs 18.2 [10.9–22.2]%, p = .03), lower conduit function and lower total circumferential strain (13.8 ± 5.1% vs 18.0 ± 8.7%, p = .01), compared to ILT patients. Only for ECC patients, a better late peak circumferential strain rate predicted better VE/VCO2 slope. No other parameter of atrial function predicted peak oxygen uptake or VE/VCO2 slope. During a median follow-up of 6.2 years,

Duchenne muscular dystrophy diagnosed by dystrophin gene deletion test: A case report

Duchenne muscular dystrophy (DMD) is an X-linked recessive disease affecting 1 in 3600—6000 live male births. A muscle biopsy is not necessary if a genetic diagnosis is secured first, particularly as some families might view the procedure as traumatic. DMD occurs as a result of mutations (mainly deletions) in the dystrophin gene (DMD; locus Xp21.2). Mutations lead to an absence of or defect in the protein dystrophin, which results in progressive muscle degeneration leading to loss of independent ambulation. Ninety percent of out frame mutations result in DMD, while 90% of in-frame mutations result in BMD. Electron microscopy is not required to confirm DMD. Genetic testing is mandatory irrespective of biopsy results. But the muscle biopsy is not required if the diagnosis is secured first by genetic testing

Maldistribution of pulmonary blood flow in patients after the Fontan operation is associated with worse exercise capacity

Abstract Background Maldistribution of pulmonary artery blood flow (MPBF) is a potential complication in patients who have undergone single ventricle palliation culminating in the Fontan procedure. Cardiovascular magnetic resonance (CMR) is the best modality that can evaluate MPBF in this population. The purpose of this study is to identify the prevalence and associations of MPBF and to determine the impact of MPBF on exercise capacity after the Fontan operation. Methods This retrospective single-center study included all patients after Fontan operation who had maximal cardiopulmonary exercise test (CPET) and CMR with flow measurements of the branch pulmonary arteries. MPBF was defined as > 20% difference in branch pulmonary artery flow. Exercise capacity was measured as percent of predicted oxygen consumption at peak exercise (% predicted VO2). Linear and logistic regression models were used to determine univariate and multivariable predictors of exercise capacity and correlates of MPBF, respectively. Results A total of 147 patients who had CMR between 1999 and 2017 were included (median age at CMR 21.8 years [interquartile range (IQR) 16.5–30.6]) and the median time between CMR and CPET was 2.8 months [IQR 0–13.8]. Fifty-three patients (36%) had MPBF (95% CI 29–45%). The mean % predicted VO2 was 63 ± 16%. Patients with MPBF had lower mean % predicted VO2 compared to patients without MPBF (60 ± 14% versus 65 ± 16%, p = 0.04). On multivariable analysis, a lower % predicted VO2 was independently associated with longer time since Fontan, higher ventricular mass-to-volume ratio, and MPBF. On multivariable analysis, only compression of the branch pulmonary arteries by the ascending aorta or aortic root was associated with MPBF (OR 6.5, 95% CI 5.6–7.4, p < 0.001). Conclusion In patients after the Fontan operation, MPBF is common and is independently associated with lower exercise capacity. MPBF was most likely to be caused by pulmonary artery compression by the aortic root or the ascending aorta. This study identifies MPBF as an important risk factor and as a potential target for therapeutic interventions in this fragile patient population