PATHFINDER-CHD: prospective registry on adults with congenital heart disease, abnormal ventricular function, and/or heart failure as a foundation for establishing rehabilitative, prehabilitative, preventive, and health-promoting measures: rationale, aims, design and methods.

BACKGROUND: Adults with congenital heart defects (ACHD) globally constitute a notably medically underserved patient population. Despite therapeutic advancements, these individuals often confront substantial physical and psychosocial residua or sequelae, requiring specialized, integrative cardiological care throughout their lifespan. Heart failure (HF) is a critical challenge in this population, markedly impacting morbidity and mortality. AIMS: The primary aim of this study is to establish a comprehensive, prospective registry to enhance understanding and management of HF in ACHD. Named PATHFINDER-CHD, this registry aims to establish foundational data for treatment strategies as well as the development of rehabilitative, prehabilitative, preventive, and health-promoting interventions, ultimately aiming to mitigate the elevated morbidity and mortality rates associated with congenital heart defects (CHD). METHODS: This multicenter survey will be conducted across various German university facilities with expertise in ACHD. Data collection will encompass real-world treatment scenarios and clinical trajectories in ACHD with manifest HF or at risk for its development, including those undergoing medical or interventional cardiac therapies, cardiac surgery, inclusive of pacemaker or ICD implantation, resynchronization therapy, assist devices, and those on solid organ transplantation. DESIGN: The study adopts an observational, exploratory design, prospectively gathering data from participating centers, with a focus on patient management and outcomes. The study is non-confirmatory, aiming to accumulate a broad spectrum of data to inform future hypotheses and studies. PROCESSES: Regular follow-ups will be conducted, systematically collecting data during routine clinical visits or hospital admissions, encompassing alterations in therapy or CHD-related complications, with visit schedules tailored to individual clinical needs. ASSESSMENTS: Baseline assessments and regular follow-ups will entail comprehensive assessments of medical history, ongoing treatments, and outcomes, with a focus on HF symptoms, cardiac function, and overall health status. DISCUSSION OF THE DESIGN: The design of the PATHFINDER-CHD Registry is tailored to capture a wide range of data, prioritizing real-world HF management in ACHD. Its prospective nature facilitates longitudinal data acquisition, pivotal for comprehending for disease progression and treatment impacts. CONCLUSION: The PATHFINDER-CHD Registry is poised to offer valuable insights into HF management in ACHD, bridging current knowledge gaps, enhancing patient care, and shaping future research endeavors in this domain.

Predictors of health-related quality of life in children with chronic heart disease.

OBJECTIVE: Chronic paediatric heart disease is often associated with residual symptoms, persisting functional restrictions, and late sequelae for psychosocial development. It is, therefore, increasingly important to evaluate the health-related quality of life of children and adolescents with chronic heart disease. The aim of this study was to determine medical and socio-demographic variables affecting health-related quality of life in school-aged children and adolescents with chronic heart disease. Patients and methods The Pediatric Cardiac Quality of Life Inventory was administered to 375 children and adolescents and 386 parental caregivers. Medical information was obtained from the charts. The socio-demographic information was provided by the patients and caregivers. RESULTS: Greater disease severity, low school attendance, current cardiac medication, current parental employment, uncertain or limited prognosis, history of connection to a heart-lung machine, number of nights spent in a hospital, and need for treatment in a paediatric aftercare clinic independently contributed to lower health-related quality of life (self-report: R2=0.41; proxy-report: R2=0.46). High correlations between self-reports and parent-proxy reports indicated concordance regarding the evaluation of a child's health-related quality of life. CONCLUSIONS: Beyond medical treatment, integration into school is important to increase health-related quality of life in children and adolescents surviving with chronic heart disease. Regular screening of health-related quality of life is recommended to identify patients with special needs.

Neonatal aortic arch obstruction due to pedunculated left ventricular foetal myxoma.

Myxoma in neonatal life are extremely rare. We report a case of a neonate with a pedunculated cardiac tumour arising from the anterolateral left ventricular wall protruding across the left ventricular outflow tract and continuously extending into the distal aortic arch. Surgical removal at 14 days of age via combined transaortic approach and apical ventriculotomy was indicated because of the risk of further compromise of aortic valve function and aortic arch obstruction. Histopathologic examination was consistent with a myxoma.

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

BACKGROUND: Tetralogy of Fallot (ToF), the most frequent cyanotic congenital heart disease, is associated with a wide range of intra- and extracardiac phenotypes. In order to get further insight into genotype-phenotype correlation, a large cohort of 230 unselected patients with ToF was comprehensively investigated. METHODS AND RESULTS: 230 patients with ToF were studied by karyotyping, comprehensive 22q11.2 deletion testing and sequencing of TBX1, NKX2.5 and JAG1, as well as molecular karyotyping in selected patients. Pathogenic genetic aberrations were found in 42 patients (18%), with 22q11.2 deletion as the most common diagnosis (7.4%), followed by trisomy 21 (5.2%) and other chromosomal aberrations or submicroscopic copy number changes (3%). Mutations in JAG1 were detected in three patients with Alagille syndrome (1.3%), while NKX2.5 mutations were seen in two patients with non-syndromic ToF (0.9%). One patient showed a recurrent polyalanine stretch elongation within TBX1 which represents a true mutation resulting in loss of transcriptional activity due to cytoplasmatic protein aggregation. CONCLUSION: This study shows that 22q11.2 deletion represents the most common known cause of ToF, and that the associated cardiac phenotype is distinct for obstruction of the proximal pulmonary artery, hypoplastic central pulmonary arteries and subclavian artery anomalies. Atrioventricular septal defect associated with ToF is very suggestive of trisomy 21 and almost excludes 22q11.2 deletion. We report a further patient with a recurrent polyalanine stretch elongation within TBX1 and for the first time link TBX1 cytoplasmatic protein aggregation to congenital heart defects.

Severe pulmonary valve incompetence late after debanding: repair by bicuspidization.

We report a simple valve repair for severe pulmonary incompetence in a 25-year-old patient. The patient had been operated on twice before for ventricular septal defect and coarctation of the aorta. The first operation consisted of pulmonary artery banding and coarctectomy and end-to-end anastomosis at 4 months, followed by debanding and transinfundibular ventricular septal defect closure at 6 years of age. Massive pulmonary incompetence was due to destruction of one valve cusp with the right ventricular outflow tract and pulmonary artery dilated secondarily. Repair consisted of pulmonary valve bicuspidization and right ventricular remodelling.

Prophylaxis of thromboembolic complications after the Fontan operation (total cavopulmonary anastomosis).

OBJECTIVES: Thrombotic events have been reported as a major cause of morbidity after the Fontan procedure. There is no consensus concerning the postoperative mode and duration of anticoagulation prophylaxis. In a retrospective study, we evaluated the results of a prophylactic regimen on the basis of the surgical technique, potentially predisposing risk factors, and specific sequelae. METHODS: We evaluated 142 surviving patients after total cavopulmonary anastomosis (mean follow-up was 91.1 +/- 43.9 months). Prophylactic antithrombotic treatment was initiated in 86 patients with partial prosthetic venous pathway with acetylsalicylic acid; 45 patients with complete autologous tissue venous pathway or partial prosthetic venous pathway received no anticoagulation, and 11 patients received warfarin sodium (Coumadin). During long-term follow-up, 22 patients (12 after acetylsalicylic acid medication) crossed over to warfarin. RESULTS: Thrombotic events occurred in 10 patients (7%), with systemic venous thrombus formation in 8 (5.6%), stroke in 2 (1.4%), and a peak incidence during the first postoperative year. Eight of 10 patients were receiving heparin therapy mainly for prolonged postoperative immobilization. During follow-up, none of the 74 patients receiving acetylsalicylic acid and 1 of 40 patients without medication presented with thrombus formation. Under warfarin medication, 1 of 28 patients had an asymptomatic thrombus. Expected freedom from a thromboembolic event was 92% at 5 years and 79% at 10 years. There was no association with coagulation factor abnormalities. Protein-losing enteropathy was present in 4 of 10 patients. CONCLUSION: A prophylactic anticoagulation strategy that considers the surgical technique and potential predisposing circumstances proved effective in the prevention of late thrombotic complications after total cavopulmonary anastomosis. There is no need for routine anticoagulation during long-term follow-up after Fontan-type surgery in pediatric patients.

Fontan-type procedures: residual lesions and late interventions.

BACKGROUND: The purpose of this study was to determine the type and incidence of hemodynamic and electrophysiological abnormalities requiring surgical or catheter-based interventions in a single-center long-term experience. METHODS: Eighty-eight patients with a follow-up of at least 5 years (mean follow-up, 9.6 +/- 2.6 years) after Fontan-type procedures were included. All patients had undergone cardiac catheterization either as part of the regular postoperative protocol or because of symptomatic atrial tachycardia or increasing cyanosis. RESULTS: Freedom from reoperation for up to 5 years was documented for 82% of patients and decreased to 76% after 8 years. Late reoperations included conversion of an atriopulmonary anastomosis to a total cavopulmonary anastomosis in 2 patients with atrial dysrhythmia and implantation of an extracardiac conduit in 1 patient with left atrial isomerism and intrapulmonary arteriovenous malformations after a Kawashima operation. Decline in sinus node function with symptomatic bradycardia required pacemaker therapy in 10 patients (11%). Transcatheter interventions included fenestration occlusion in 5 of the 11 patients with initial baffle fenestration. In 6 of 17 patients with aortopulmonary collaterals, coil occlusion was indicated to reduce future systemic ventricular volume load. Various systemic venous collaterals were documented in 11 patients and required coil occlusion in 2. One patient with symptomatic protein-losing enteropathy underwent transcatheter fenestration creation without sustained relief of symptoms. Freedom from transcatheter interventions decreased from 94% to 82% after 5 and 10 years, respectively. CONCLUSIONS: During long-term follow-up, reoperations are rare and mainly involve Fontan conversion to either a lateral-tunnel or extracardiac-conduit procedure. Detailed angiographic evaluation on a routine basis allows identification of the vascular sites of origin of aortopulmonary collateral vessels and systemic venous collaterals potentially developing during long-term follow-up. Transcatheter interventions including fenestration occlusion and occlusion of venous collaterals and aortopulmonary collaterals were performed to maintain and improve the Fontan circulation in clinically symptomatic and asymptomatic patients. During long-term follow-up after Fontan-type operations, a regular postoperative cardiac catheterization protocol is recommended.