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Background: Patients with transposition of the great arteries (TGA) and systemic right ventricle often confront significant adverse cardiac events. The prognostic significance of invasive hemodynamic parameters in this context remains uncertain. Our hypothesis is that the aortic pulsatility index and hemodynamic profiling utilizing invasive measures provide prognostic insights for patients with TGA and a systemic right ventricle., Methods: This retrospective multicenter cohort study encompasses adults with TGA and a systemic right ventricle who underwent cardiac catheterization. Data collection, spanning from 1994 to 2020, encompasses clinical and hemodynamic parameters, including measured and calculated values such as pulmonary capillary wedge pressure, aortic pulsatility index, and cardiac index. Pulmonary capillary wedge pressure and cardiac index values were used to establish 4 distinct hemodynamic profiles. A pulmonary capillary wedge pressure of ≥15 mm Hg indicated congestion, termed wet, while a cardiac index <2.2 L/min per m 2 signified inadequate perfusion, labeled cold. The primary outcome comprised a composite of all-cause death, heart transplantation, or the requirement for mechanical circulatory support., Results: Of 1721 patients with TGA, 242 individuals with available invasive hemodynamic data were included. The median follow-up duration after cardiac catheterization was 11.4 (interquartile range, 7.5-15.9) years, with a mean age of 38.5±10.8 years at the time of cardiac catheterization. Among hemodynamic parameters, an aortic pulsatility index <1.5 emerged as a robust predictor of the primary outcome, with adjusted hazard ratios of 5.90 (95% CI, 3.01-11.62; P <0.001). Among the identified 4 hemodynamic profiles, the cold/wet profile was associated with the highest risk for the primary outcome, with an adjusted hazard ratio of 3.83 (95% CI, 1.63-9.02; P <0.001)., Conclusions: A low aortic pulsatility index (<1.5) and the cold/wet hemodynamic profile are linked with an elevated risk of adverse long-term cardiac outcomes in patients with TGA and systemic right ventricle., Competing Interests: None.

Background and Aims: For patients with congenitally corrected transposition of the great arteries (ccTGA), factors associated with progression to end-stage congestive heart failure (CHF) remain largely unclear., Methods: This multicentre, retrospective cohort study included adults with ccTGA seen at a congenital heart disease centre. Clinical data from initial and most recent visits were obtained. The composite primary outcome was mechanical circulatory support, heart transplantation, or death., Results: From 558 patients (48% female, age at first visit 36 ± 14.2 years, median follow-up 8.7 years), the event rate of the primary outcome was 15.4 per 1000 person-years (11 mechanical circulatory support implantations, 12 transplantations, and 52 deaths). Patients experiencing the primary outcome were older and more likely to have a history of atrial arrhythmia. The primary outcome was highest in those with both moderate/severe right ventricular (RV) dysfunction and tricuspid regurgitation (n = 110, 31 events) and uncommon in those with mild/less RV dysfunction and tricuspid regurgitation (n = 181, 13 events, P < .001). Outcomes were not different based on anatomic complexity and history of tricuspid valve surgery or of subpulmonic obstruction. New CHF admission or ventricular arrhythmia was associated with the primary outcome. Individuals who underwent childhood surgery had more adverse outcomes than age- and sex-matched controls. Multivariable Cox regression analysis identified older age, prior CHF admission, and severe RV dysfunction as independent predictors for the primary outcome., Conclusions: Patients with ccTGA have variable deterioration to end-stage heart failure or death over time, commonly between their fifth and sixth decades. Predictors include arrhythmic and CHF events and severe RV dysfunction but not anatomy or need for tricuspid valve surgery., (© The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology.)

Background: Neurocognitive dysfunction (NCD) is a common comorbidity among children with congenital heart disease (CHD). However, it is unclear how underlying CHD and its sequelae combine with genetics and acquired cardiovascular and neurological disease to impact NCD and outcomes across the lifespan in adults with CHD., Methods: The Multi-Institutional Neurocognitive Discovery Study in Adults with Congenital Heart Disease (MINDS-ACHD) is a partnership between the Pediatric Heart Network (PHN) and the Adult Alliance for Research in Congenital Cardiology (AARCC) that examines objective and subjective neurocognitive function and genetics in young ACHD. This multicenter cross-sectional pilot study is enrolling 500 young adults between 18 and 30 years with moderate or severe complexity CHD at 14 centers in North America. Enrollment includes 4 groups (125 participants each): (1) d-looped Transposition of the Great Arteries (d-TGA); (2) Tetralogy of Fallot (TOF); (3) single ventricle (SV) physiology; and (4) "other moderately or severely complex CHD." Participants complete the standardized tests from the NIH Toolbox Cognitive Battery, the NeuroQoL, the Hospital Anxiety and Depression Scale, and the PROMIS Global QoL measure. Clinical and demographic variables are collected by interview and medical record review, and an optional biospecimen is collected for genetic analysis. Due to the COVID-19 pandemic, participation may be done remotely. Tests are reviewed by a Neurocognitive Core Laboratory., Conclusions: MINDS-ACHD is the largest study to date characterizing NCD in young adults with moderate or severely complex CHD in North America. Its results will provide valuable data to inform screening and management strategies for NCD in ACHD and improve lifelong care., Competing Interests: Conflicts of interest There are no declarations of interest to disclose for any of the authors. The views expressed in this manuscript are those of the authors and do not reflect official positions of the National Heart, Lung, and Blood Institute, the National Institutes of Health (NIH), or the United States Department of Health and Human Services., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Background: For patients with d-loop transposition of the great arteries (d-TGA) with a systemic right ventricle after an atrial switch operation, there is a need to identify risks for end-stage heart failure outcomes., Objectives: The authors aimed to determine factors associated with survival in a large cohort of such individuals., Methods: This multicenter, retrospective cohort study included adults with d-TGA and prior atrial switch surgery seen at a congenital heart center. Clinical data from initial and most recent visits were obtained. The composite primary outcome was death, transplantation, or mechanical circulatory support (MCS)., Results: From 1,168 patients (38% female, age at first visit 29 ± 7.2 years) during a median 9.2 years of follow-up, 91 (8.8% per 10 person-years) met the outcome (66 deaths, 19 transplantations, 6 MCS). Patients experiencing sudden/arrhythmic death were younger than those dying of other causes (32.6 ± 6.4 years vs 42.4 ± 6.8 years; P < 0.001). There was a long duration between sentinel clinical events and end-stage heart failure. Age, atrial arrhythmia, pacemaker, biventricular enlargement, systolic dysfunction, and tricuspid regurgitation were all associated with the primary outcome. Independent 5-year predictors of primary outcome were prior ventricular arrhythmia, heart failure admission, complex anatomy, QRS duration >120 ms, and severe right ventricle dysfunction based on echocardiography., Conclusions: For most adults with d-TGA after atrial switch, progress to end-stage heart failure or death is slow. A simplified prediction score for 5-year adverse outcome is derived to help identify those at greatest risk., Competing Interests: Funding Support and Author Disclosures This study was funded by a joint grant from the Children’s Heart Foundation and the American Heart Association (17GRNT33670334). Dr Opotowsky was supported by the Heart Institute Research Core at Cincinnati Children’s Hospital and the Dunlevie Family Fund. The authors used the Research Electronic Data Capture (REDCap) online database, which is funded by the National Institutes of Health (UL1TR002369). All other authors have reported that they have no relationships relevant to the contents of this paper to disclose., (Copyright © 2022 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.)

Pathogenic variants in ACTA2, encoding smooth muscle α-actin, predispose to thoracic aortic aneurysms and dissections. ACTA2 variants altering arginine 179 predispose to a more severe, multisystemic disease termed smooth muscle dysfunction syndrome (SMDS; OMIM 613834). Vascular complications of SMDS include patent ductus arteriosus (PDA) or aortopulmonary window, early-onset thoracic aortic disease (TAD), moyamoya-like cerebrovascular disease, and primary pulmonary hypertension. Patients also have dysfunction of other smooth muscle-dependent systems, including congenital mydriasis, hypotonic bladder, and gut hypoperistalsis. Here, we describe five patients with novel heterozygous ACTA2 missense variants, p.Arg179Gly, p.Met46Arg, p.Thr204Ile, p.Arg39Cys, and p.Ile66Asn, who have clinical complications that align or overlap with SMDS. Patients with the ACTA2 p.Arg179Gly and p.Thr204Ile variants display classic features of SMDS. The patient with the ACTA2 p.Met46Arg variant exhibits exclusively vascular complications of SMDS, including early-onset TAD, PDA, and moyamoya-like cerebrovascular disease. The patient with the ACTA2 p.Ile66Asn variant has an unusual vascular complication, a large fusiform internal carotid artery aneurysm. The patient with the ACTA2 p.Arg39Cys variant has pulmonary, gastrointestinal, and genitourinary complications of SMDS but no vascular manifestations. Identifying pathogenic ACTA2 variants associated with features of SMDS is critical for aggressive surveillance and management of vascular and nonvascular complications and delineating the molecular pathogenesis of SMDS., (© 2022 Wiley Periodicals LLC.)

The Adult Congenital and Pediatric Cardiology (ACPC) Section of the American College of Cardiology sought to develop quality indicators/metrics for ambulatory pediatric cardiology practice. The objective of this study was to report the creation of metrics for patients with Kawasaki disease. Over a period of 5 months, 12 pediatric cardiologists developed 24 quality metrics based on the most relevant statements, guidelines, and research studies pertaining to Kawasaki disease. Of the 24 metrics, the 8 metrics deemed the most important, feasible, and valid were sent on to the ACPC for consideration. Seven of the 8 metrics were approved using the RAND method by an expert panel. All 7 metrics approved by the ACPC council were accepted by ACPC membership after an "open comments" process. They have been disseminated to the pediatric cardiology community for implementation by the ACPC Quality Network.

Objectives: To evaluate transition readiness, including perceived knowledge deficits, self-efficacy, and self-management behaviors, in 13- to 25-year-olds with congenital heart disease or heart transplant and to examine the relationships between transition readiness assessment, information seeking behavior, and quality of life (QOL)., Study Design: In this cross-sectional study, patients (n = 164) completed the Transition Readiness Assessment and the Pediatric Quality of Life Inventory using an e-tablet, web-based format at a routine clinic visit., Results: Median patient age was 18.1 years (range 13.0-25.5). Average perceived knowledge deficit score (% of items with no knowledge) was 25.7% (range 0%-75%). On a 100-point scale, the mean score was 72.0 ± 17.2 for self-efficacy and 49.7 ± 17.5 for self-management. Knowledge deficits were negatively correlated with self-efficacy (r = -0.45, P < .0001) and self-management (r = -0.36, P < .0001). Overall, 66% of patients requested information (73% ≥ 18 years old). Higher psychosocial QOL scores were correlated with lower knowledge deficit scores (r = -0.21, P = .01) and higher perceived self-efficacy scores (r = 0.41, P < .0001)., Conclusions: Transition knowledge deficits are common and associated with decreased self-efficacy and self-management skills in adolescents and young adults with heart disease. Greater transition knowledge and perceived self-efficacy are associated with better psychosocial QOL. Routine assessment of transition readiness is recommended to facilitate recognition of deficits and interventions to promote successful transition outcomes., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Although sleep-disordered breathing has been extensively studied in patients with left-ventricular dysfunction, little is known of its prevalence in adults with congenital heart disease. Patients with d-looped transposition of the great arteries (d-TGA) who have undergone atrial switch procedures often develop progressive heart failure. The objective of this study was to determine the prevalence of patients at risk for sleep-disordered breathing in adults with d-TGA and atrial switch procedures compared with a control population. Thirty-two patients with d-TGA (66 % males, median age 31) were compared with 32 healthy controls. Baseline demographics and clinical characteristics were documented. The snoring, tiredness during daytime, observed apnea, and high blood pressure (STOP) questionnaire was used to identify subjects at risk for obstructive sleep apnea (OSA). There was no difference in baseline demographics between subjects and controls. For the STOP questionnaire, 14 subjects with d-TGA had scores predictive of OSA compared with three in the control group (44 vs. 9 %, p = 0.0038). There was no difference in functional status between d-TGA patients with or without OSA. There is a greater prevalence of risk for sleep disordered breathing in adults with d-TGA compared with controls. Further prospective investigation with sleep studies will be valuable to confirm these findings.

Cardiologists from the USA provide information from earlier experiences in this emerging specialty.

Background: Adult congenital heart disease (ACHD) clinicians are hampered by the paucity of data to inform clinical decision-making. The objective of this study was to identify priorities for clinical research in ACHD., Methods: A list of 45 research questions was developed by the Alliance for Adult Research in Congenital Cardiology (AARCC), compiled into a survey, and administered to ACHD providers. Patient input was sought via the Adult Congenital Heart Association at community meetings and online forums. The 25 top questions were sent to ACHD providers worldwide via an online survey. Each question was ranked based on perceived priority and weighted based on time spent in ACHD care. The top 10 topics identified are presented and discussed., Results: The final online survey yielded 139 responses. Top priority questions related to tetralogy of Fallot (timing of pulmonary valve replacement and criteria for primary prevention ICDs), patients with systemic right ventricles (determining the optimal echocardiographic techniques for measuring right ventricular function, and indications for tricuspid valve replacement and primary prevention ICDs), and single ventricle/Fontan patients (role of pulmonary vasodilators, optimal anticoagulation, medical therapy for preservation of ventricular function, treatment for protein losing enteropathy). In addition, establishing criteria to refer ACHD patients for cardiac transplantation was deemed a priority., Conclusions: The ACHD field is in need of prospective research to address fundamental clinical questions. It is hoped that this methodical consultation process will inform researchers and funding organizations about clinical research topics deemed to be of high priority., (Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.)

Objective: This study aimed to measure the impact of a school-based multidisciplinary intervention program on risk factors for atherosclerosis in sixth-grade middle school students. We also measured health behaviors before and after the intervention using a validated questionnaire., Methods: A prospective study was performed in which students served as historical controls. Sixth-grade students from 23 middle schools in 12 cities with varying populations were exposed to a program promoting healthful activity and nutrition habits through educational and environmental change. Along with a modified School-Based Nutrition Monitoring behavioral questionnaire, physiologic risk factors were studied, including body mass index, systolic and diastolic blood pressures, cholesterol panel, and random blood glucose, which were measured before the 10-week program and again 1 to 3 months after program completion., Results: Of 4021 sixth graders (male, 49%) at 23 middle schools completing a before and after behavioral survey, 2118 students, aged 11.56 ± 0.47 years, consented to participate in the screening. The mean total cholesterol value decreased from 161.64 ± 28.99 mg/dL to 154.77 ± 27.26 mg/dL (P < .001). The low-density lipoprotein value decreased from 89.37 ± 25.08 mg/dL to 87.14 ± 24.25 mg/dL (P < .001). The high-density lipoprotein value decreased from 52.15 ± 13.35 md/dL to 49.95 ± 13.28 mg/dL (P < .001). The measure of triglycerides decreased from 113.34 ± 73.19 mg/dL to 101.22 ± 63.93 mg/dL (P < .001). The random glucose value decreased from 97.51 ± 16.00 to 94.94 ± 16.62 (P < .001). The mean systolic blood pressure decreased from 109.47 ± 15.26 mm Hg to 107.76 ± 10.87 mm Hg (P < .001), and the mean diastolic blood pressure decreased from 64.78 ± 8.57 mm Hg to 63.35 ± 7.81 mm Hg (P < .001). These changes in physiologic measures seemed to correlate with self-reported increases in vegetable and fruit consumption, increases in physical activity, and less screen time., Conclusions: Project Healthy Schools, a middle school intervention to improve childhood cardiovascular risk factors, is feasible and seems to be effective. The results showed significant improvements in risk factors associated with early atherosclerosis among sixth-grade students, including total cholesterol, low-density lipoprotein cholesterol, triglycerides, and systolic and diastolic blood pressures. Further study with a larger group of students and a longer follow-up period would be valuable., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Right pulmonary artery to left atrial fistula is a rare congenital vascular anomaly which usually presents with cyanosis, clubbing, dyspnea, and signs and symptoms of a right to left shunt. Paradoxical embolism to the brain resulting in cerebral abscess formation and death is a rare and ominous complication that has been described. We describe an unusual presentation with abdominal pain resulting from splenic infarction.

Objective: The purpose of this study is to assess perceived health status and quality of life in adults with congenitally corrected transposition of the great arteries who have not undergone anatomic repair., Methods: Quality of life as measured by the satisfaction with life scale and linear analog scales and perceived health status as measured by the Short Form 36 Health Survey (version 1) were evaluated in 25 adults with congenitally corrected transposition and compared with a control group of 25 adults with mild, hemodynamically insignificant defects., Results: Instruments were returned by 83% of patients (25/30; 11 male; mean age, 44.6 ± 16 years). Health status by the linear analog scale was significantly lower (P = .03) in subjects (median, 80; range, 15-100) than in controls (median, 85; range, 65-100). Quality of life by the satisfaction with life scale was also lower (P = .009) in subjects (mean, 24 ± 8) compared with controls. Age was negatively correlated with the Short Form 36 Health Survey physical functioning (r = -0.41, P = .04), bodily pain (r = -0.5, P = .01), and physical component (r = -0.56, P = .004) summary scores in adults with congenitally corrected transposition but not in controls., Conclusions: Adults with congenitally corrected transposition have lower reported health status and satisfaction with life than a control population, with perceived health status declining with advancing age., (Copyright © 2012 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.)

Objectives: This study was designed to review baseline characteristics and outcomes of children requiring tracheostomy after cardiac surgery., Methods: A retrospective review of children under age 2 requiring tracheostomy after cardiac surgery between January 1999 and December 2005 was performed. Indications for tracheostomy, survival, and completion of staged palliation were documented., Results: After cardiac surgery, 59 (1.3%) of 4503 patients with a median age at surgery of 15 days and weight of 3.5 kg required tracheostomy. Median duration from surgery to tracheostomy was 36 days (range 10-145 days). Genetic syndromes or major noncardiac comorbidities were present in 40% of patients. Biventricular repair was performed in 34 patients and univentricular repair in 25. Tetralogy of Fallot variants (29%) and coarctation±ventricular septal defect (21%) constituted the majority of biventricular lesions associated with tracheostomy, whereas unbalanced atrioventricular septal defect and hypoplastic left heart syndrome with highly restrictive atrial septal defect accounted for 52% of the single ventricle group. Indications for tracheostomy included the following: multifactorial (37%), tracheobronchomalacia, (24%), cardiac (12%), bilateral vocal cord paralysis (10%), bilateral diaphragm paralysis (2%), and other airway issues (15%). Hospital survival was 75% with intermediate-term (median, 25.5 months; range, 1-122 months) survival of 53%. Of 25 single ventricle patients, 6 (24%) had successful completion of the Fontan procedure. Of 12 patients with single ventricle who were ventilator-dependent after initial repair, 10 died, 1 remains at hemi-Fontan, and 1 has undergone completion of the Fontan procedure., Conclusions: Requirement for tracheostomy in pediatric patients after cardiac surgery was associated with significant mortality. Patients with single ventricle have the highest late death rate and those with chronic ventilator dependency were unlikely to undergo successful Fontan completion., (Copyright © 2011 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.)

We describe a 17-year-old patient with an atrial septal defect who underwent device closure with a second generation Sideris buttoned device at 4 years of age. She presented 13 years after the procedure with the acute onset of chest discomfort, at which time a chest radiograph showed migration of the wire of the right atrial counter-occluder to the lateral aspect of the right atrial wall, with an associated right atrial perforation. The patient underwent uneventful surgical device retrieval and atrial septal defect closure. Late migration of a portion of the Sideris buttoned device can occur, suggesting the need for continued follow up, and a high index of suspicion for device failure should a patient become symptomatic., ((c) 2006 Wiley-Liss, Inc.)