Design and Harmonization Approach for the Multi-Institutional Neurocognitive Discovery Study (MINDS) of Adult Congenital Heart Disease (ACHD) Neuroimaging Ancillary Study: A Technical Note.

Dramatic advances in the management of congenital heart disease (CHD) have improved survival to adulthood from less than 10% in the 1960s to over 90% in the current era, such that adult CHD (ACHD) patients now outnumber their pediatric counterparts. ACHD patients demonstrate domain-specific neurocognitive deficits associated with reduced quality of life that include deficits in educational attainment and social interaction. Our hypothesis is that ACHD patients exhibit vascular brain injury and structural/physiological brain alterations that are predictive of specific neurocognitive deficits modified by behavioral and environmental enrichment proxies of cognitive reserve (e.g., level of education and lifestyle/social habits). This technical note describes an ancillary study to the National Heart, Lung, and Blood Institute (NHLBI)-funded Pediatric Heart Network (PHN) "Multi-Institutional Neurocognitive Discovery Study (MINDS) in Adult Congenital Heart Disease (ACHD)". Leveraging clinical, neuropsychological, and biospecimen data from the parent study, our study will provide structural-physiological correlates of neurocognitive outcomes, representing the first multi-center neuroimaging initiative to be performed in ACHD patients. Limitations of the study include recruitment challenges inherent to an ancillary study, implantable cardiac devices, and harmonization of neuroimaging biomarkers. Results from this research will help shape the care of ACHD patients and further our understanding of the interplay between brain injury and cognitive reserve.

End-stage heart failure in congenitally corrected transposition of the great arteries: a multicentre study.

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.

Unicuspid Aortic Valve With Severe Aortic Stenosis and Progressive Heart Failure During Pregnancy.

A 39-year-old gravida 7 para 6 woman with unicuspid aortic valve and severe symptomatic stenosis was admitted to the hospital at 15 weeks gestation. We describe maternal cardiovascular complications and their implication on obstetric and fetal care. We also describe our multidisciplinary approach to caring for this complex patient.

Long-Term Outcomes After Atrial Switch Operation for Transposition of the Great Arteries.

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.

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.

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.

Risk Factors for Perioperative Morbidity in Adults Undergoing Cardiac Surgery at Children's Hospitals.

BACKGROUND: Increasing numbers of adults with congenital heart disease (ACHD) undergo cardiac surgical procedures in children's hospitals, yet surgical outcomes data are limited. We sought to better understand the impact of preoperative risk factors on postoperative complications and cardiac intensive care unit (CICU) length of stay (LOS). METHODS: Surgical CICU admissions for patients aged 18 years and older in the Pediatric Cardiac Critical Care Consortium registry from August 2014 to January 2019 in 34 hospitals were included. Primary outcomes included prolonged LOS (defined as LOS ≥90th percentile) and major complications (cardiac arrest, extracorporeal membrane oxygenation, arrhythmia requiring intervention, stroke, renal replacement therapy, infection, and reoperation/reintervention). RESULTS: We analyzed 1764 surgical CICU admissions. Prolonged LOS was 7 days or longer. Eighteen patients (1.0%) died, of whom 9 (0.5%) died before the LOS cutoff and were excluded from analysis. Of 1755 CICU admissions, 8.8% (n = 156) had prolonged LOS, and 23.3% (n = 413) had 1 or more major complications. Several variables, including The Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery 4/5 operation, 3 or more previous sternotomies, and preoperative renal dysfunction/dialysis were independent risk factors for both prolonged LOS and major complications (P < .05). Preoperative ventilation was associated with increased odds of prolonged LOS and preoperative arrhythmia with major complications. CONCLUSIONS: This analysis of postoperative ACHD care in pediatric CICUs found high complexity operations, 3 or more previous sternotomies, preoperative arrhythmias, renal dysfunction, and respiratory failure are associated with prolonged LOS and/or major complications. Future quality improvement initiatives focused on preoperative optimization and implementation of adult-specific perioperative protocols may mitigate morbidity in these patients undergoing cardiac surgical procedures at children's hospitals.

Pregnancy in Women with Adult Congenital Heart Disease.

Women with congenital heart disease are pursuing pregnancy in increasing numbers. Counseling about genetic transmission, medication management, maternal and fetal risks, and maternal longevity should be initiated well before pregnancy is considered. Although preconception medical and surgical optimization as well as coordinated multidisciplinary care throughout pregnancy decrease maternal and fetal risks, the rate of complications remains increased compared with the general population. Lesion-specific risk stratification and care throughout pregnancy further improve outcomes and decrease unnecessary interventions.

Aortopathy in Congenital Heart Disease.

Aortic dilatation is common in patients with congenital heart disease and is seen in patients with bicuspid aortic valve and those with conotruncal congenital heart defects. It is important to identify patients with bicuspid aortic valve at high risk for aortic dissection. High-risk patients include those with the aortic root phenotype and those with syndromic or familial aortopathies including Marfan syndrome, Loeys-Dietz syndrome, and Turner syndrome. Aortic dilatation is common in patients with conotruncal congenital heart defects and rarely results in aortic dissection.

Coronavirus Disease 2019 (COVID-19) Pandemic Implications in Pediatric and Adult Congenital Heart Disease.

The corona virus disease -2019 (COVID-19) is a recently described infectious disease caused by the severe acute respiratory syndrome corona virus 2 with significant cardiovascular implications. Given the increased risk for severe COVID-19 observed in adults with underlying cardiac involvement, there is concern that patients with pediatric and congenital heart disease (CHD) may likewise be at increased risk for severe infection. The cardiac manifestations of COVID-19 include myocarditis, arrhythmia and myocardial infarction. Importantly, the pandemic has stretched health care systems and many care team members are at risk for contracting and possibly transmitting the disease which may further impact the care of patients with cardiovascular disease. In this review, we describe the effects of COVID-19 in the pediatric and young adult population and review the cardiovascular involvement in COVID-19 focusing on implications for patients with congenital heart disease in particular.

Development and Utility of Quality Metrics for Ambulatory Pediatric Cardiology in Kawasaki Disease.

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.

Acute Postpartum Heart Failure With Preserved Systolic Function.

Dyspnea in the postpartum period can be a symptom of a wide range of causes spanning normal pregnancy to life-threatening pathology. We describe a case of acute postpartum heart failure with preserved systolic function in the absence of pre-eclampsia or prior cardiovascular disease. (Level of Difficulty: Beginner.).

Symptomatic Subclavian Steal During Pregnancy in a Woman Status Post Coarctation Repair in Infancy.

A 24-year-old woman with a history of coarctation repair by subclavian flap aortoplasty presented at 15 weeks' gestation with transient episodes of vision loss. She was diagnosed with subclavian steal syndrome and underwent left carotid artery to subclavian artery bypass at 17 weeks' gestation. She has had no recurrence of symptoms at ten months of postoperative follow-up. Despite the anatomic substrate for subclavian steal in patients with this type of surgical repair, neurologic symptoms are uncommon. It is possible that the pregnancy-induced fall in systemic vascular resistance triggered symptoms in this previously asymptomatic patient.

Echocardiographic predictors of elevated left ventricular end diastolic pressure in adolescent and adult patients with repaired tetralogy of Fallot.

Elevated left ventricular end diastolic pressure is a risk factor for ventricular arrhythmias in patients with tetralogy of Fallot. The objective of this retrospective study was to identify echocardiographic measures associated with left ventricular end diastolic pressure >12 mmHg in this population. Repaired tetralogy of Fallot patients age ≥13 years, who underwent a left heart catheterisation within 7 days of having an echocardiogram were evaluated. Univariate comparison was made in echocardiographic and clinical variables between patients with left ventricular end diastolic pressure >12 versus ≤12 mmHg. Ninety-four patients (54% male) with a median age of 24.6 years were included. Thirty-four (36%) had left ventricular end diastolic pressure >12 mmHg. Patients with left ventricular end diastolic pressure >12mmHg were older (median 32.9 versus 24.0 years, p = 0.02), more likely to have a history of an aortopulmonary shunt (62% versus 38%, p = 0.03), and have a diagnosis of hypertension (24% versus 7%, p = 0.03) compared to those with left ventricular end diastolic pressure ≤12 mmHg. There were no significant differences in mitral valve E/A ratio, annular e' velocity, or E/e' ratio between patients with left ventricular end diastolic pressure >12 versus ≤12 mmHg. Patients with left ventricular end diastolic pressure >12mmHg had larger left atrial area (mean 17.7 versus 14.0 cm2, p = 0.03) and larger left atrium anterior-posterior diameter (mean 36.0 versus 30.6 mm, p = 0.004). In conclusion, typical echocardiographic measures of left ventricular diastolic dysfunction may not be reliable in tetralogy of Fallot patients. Prospective studies with the use of novel echocardiographic measures are needed.

Transition of Care in Congenital Disease: Allaying Fears for Patients and Specialists.

Advances in the care of infants and children with congenital heart disease (CHD) have resulted in significantly improved survival of this population into adulthood. Although the majority of patients with CHD have undergone surgical intervention or transcatheter intervention, patients are not "cured" and almost all require lifelong cardiac care. In many parts of the world, robust systems of care have been developed for infants and children with CHD. Although there has been progress in the development of programs for the care of adults with CHD, the time of transition and transfer of care remains a time of high risk for lapses in care and becoming lost to follow-up. Transition is a process of education and preparation for young patients to assume their own care as they enter adulthood, while transfer is the actual event of a patient moving their care from a pediatric to an adult environment. The purpose of this review is to summarize what is known of best practices related to the transition and transfer of patients with CHD to adult services and to provide a practical approach to the sometimes daunting task of preparing patients for the transfer of care.

Assessment of Transition Readiness in Adolescents and Young Adults with Heart Disease.

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.

GUCH/ACHD: what is required of the newest field in medicine?

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

Risk for sleep-disordered breathing in adults after atrial switch repairs for d-looped transposition of the great arteries.

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.

Clinical research priorities in adult congenital heart disease.

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.