Late Status of Fontan Patients With Persistent Surgical Fenestration

ObjectivesThis study was undertaken to determine the effects of creating a systemic-to-pulmonary venous atrial-level communication (fenestration) at the time of the Fontan procedure on late outcomes.BackgroundFenestrations are frequently performed during Fontan procedures, but late consequences are not well described.MethodsPatient characteristics were compared between those with and without surgical fenestration among 536 subjects (mean age 11.9 years) enrolled in the Pediatric Heart Network Fontan Cross-Sectional Study. The status of the fenestration and the association of a currently patent fenestration with health status and measures of ventricular performance were investigated.ResultsFenestration was performed in 361 patients (67%), and frequency differed by year and center (p < 0.001 for each). After adjustment for center, age at Fontan, year of Fontan, and prior superior cavopulmonary surgery, the fenestrated group had shorter length of Fontan hospital stay. At the time of cross-sectional testing 8 ± 3 years after Fontan, the fenestration remained open in 19% of subjects. Among those with confirmed fenestration closure, 59% were by catheter intervention and 1% by surgical intervention, and 40% had apparent spontaneous closure. Compared with those without evidence of a fenestration, subjects with a current fenestration were taking more medications (p = 0.02) and had lower resting oxygen saturation (median 89% vs. 95%, p < 0.001). Functional health status, exercise performance, echocardiographic variables, prevalence of post-Fontan stroke or thrombosis, and growth did not differ by current fenestration status.ConclusionsSurgical fenestration is associated with well-demonstrated early post-operative benefits. This cross-sectional study found few associations between a persistent fenestration and deleterious later outcomes

Survival Data and Predictors of Functional Outcome an Average of 15 Years after the Fontan Procedure: The Pediatric Heart Network Fontan Cohort

ObjectiveMulticenter longitudinal outcome data for Fontan patients surviving into adulthood are lacking. The aim of this study was to better understand contemporary outcomes in Fontan survivors by collecting follow‐up data in a previously well‐characterized cohort.DesignBaseline data from the Fontan Cross‐Sectional Study (Fontan 1) were previously obtained in 546 Fontan survivors aged 11.9 ± 3.4 years. We assessed current transplant‐free survival status in all subjects 6.8 ± 0.4 years after the Fontan 1 study. Anatomic, clinical, and surgical data were collected along with socioeconomic status and access to health care.ResultsThirty subjects (5%) died or underwent transplantation since Fontan 1. Subjects with both an elevated (>21 pg/mL) brain natriuretic peptide and a low Child Health Questionnaire physical summary score (<44) measured at Fontan 1 were significantly more likely to die or undergo transplant than the remainder, with a hazard ratio of 6.2 (2.9–13.5). Among 516 Fontan survivors, 427 (83%) enrolled in this follow‐up study (Fontan 2) at 18.4 ± 3.4 years of age. Although mean scores on functional health status questionnaires were lower than the general population, individual scores were within the normal range in 78% and 88% of subjects for the Child Health Questionnaire physical and psychosocial summary score, and 97% and 91% for the SF‐36 physical and mental aggregate score, respectively. Since Fontan surgery, 119 (28%) had additional cardiac surgery; 55% of these (n = 66) in the interim between Fontan 1 and Fontan 2. A catheter intervention occurred in 242 (57%); 32% of these (n = 78) after Fontan 1. Arrhythmia requiring treatment developed in 118 (28%) after Fontan surgery; 58% of these (n = 68) since Fontan 1.ConclusionsWe found 95% interim transplant‐free survival for Fontan survivors over an average of 7 years of follow‐up. Continued longitudinal investigation into adulthood is necessary to better understand the determinants of long‐term outcomes and to improve functional health status.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/110738/1/chd12193.pd

De novo mutations in histone modifying genes in congenital heart disease

Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births1. Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novo mutations. By analysis of exome sequencing of parent-offspring trios, we compared the incidence of de novo mutations in 362 severe CHD cases and 264 controls. CHD cases showed a significant excess of protein-altering de novo mutations in genes expressed in the developing heart, with an odds ratio of 7.5 for damaging mutations. Similar odds ratios were seen across major classes of severe CHD. We found a marked excess of de novo mutations in genes involved in production, removal or reading of H3K4 methylation (H3K4me), or ubiquitination of H2BK120, which is required for H3K4 methylation2–4. There were also two de novo mutations in SMAD2; SMAD2 signaling in the embryonic left-right organizer induces demethylation of H3K27me5. H3K4me and H3K27me mark `poised' promoters and enhancers that regulate expression of key developmental genes6. These findings implicate de novo point mutations in several hundred genes that collectively contribute to ~10% of severe CHD

Toxocara Myopericarditis and Cardiac Magnetic Resonance Imaging in a Young Girl

Cardiac infection with Toxocara is rarely diagnosed, especially in children, and corresponding cardiac magnetic resonance imaging (CMR) has not been reported. We present a probable case, a 9-year-old girl with myopericarditis, eosinophilia, positive Toxocara serology, and CMR findings consistent with myocardial edema

Staged ventricular recruitment in patients with borderline ventricles and large ventricular septal defects

Objectives: Patients with borderline ventricles and ventricular septal defects (VSDs) who have previously undergone single ventricle palliation might be candidates for staged ventricular recruitment with the ultimate goal of biventricular conversion. This study aimed to determine the effect of atrial septal defect (ASD) restriction without VSD closure on ventricular growth in patients with borderline right or left ventricles and VSDs. Methods: Patients with borderline ventricles and VSD who underwent a staged ventricular recruitment procedure with strategies to increase blood flow through hypoplastic ventricle via ASD restriction without VSD closure after single ventricle palliation were retrospectively reviewed. Pre- and postrecruitment ventricular volumes were compared using Wilcoxon signed rank test. Results: A total of 21 patients underwent staged ventricular recruitment via ASD restriction without VSD closure at median age of 20.0 months (interquartile range [IQR], 8.0-52.5 months). At a median of 9.0 months (IQR, 8.0-11.8 months) after the recruitment procedure, there were increases in the median indexed ventricular diastolic volume (31.7 mL/m [IQR, 24.5-37.1] to 48.5 mL/m [IQR, 38.4-58.0; P \u3c.01]), median indexed systolic volume (13.3 mL/m [IQR, 9.7-18.7] to 19.5 mL/m [IQR, 16.8-29.7]; P \u3c.01), and the median indexed stroke volume (18.4 mL/m [IQR, 14.8-21.1] to 28.1 mL/m [IQR, 21.3-31.8]; P \u3c.01). Biventricular conversion was ultimately performed in 14 (67%). Two patients died after biventricular conversion. Conclusions: Staged ventricular recruitment via ASD restriction without VSD closure is associated with growth of the hypoplastic ventricle. In patients who are deemed high-risk for single ventricle, this approach might facilitate eventual biventricular conversion. Further studies are needed to identify optimal candidates for this approach. 2 2 2 2 2