Background/Objectives: Progress in diagnostic and therapeutic strategies has resulted in an increasing prevalence of adults with congenital heart disease (ACHD), including those involving genetically determined syndromes. This study aimed to characterize prevalence, congenital phenotypes, heart failure (HF) stages, comorbidity burden, and current medical management of ACHD and concomitant genetically determined syndromes enrolled in a prospective HF-focused registry. Methods: The PATHFINDER-CHD Registry is a German-based (est. 2022) multicenter observational registry. This web-based platform consecutively tracks ACHD patients across the heart failure spectrum, including those with current or prior HF, as well as those at high structural or functional risk. HF stage was classified using a modified ACC/AHA scheme adapted for CHD; functional capacity was graded according to the Perloff classification. Baseline demographics, CHD anatomy, prior surgical/interventional treatment, cardiac and extracardiac comorbidities, and medication were collected from medical records. Results: Among 1987 enrolled ACHD, 107 (5.4%) had a genetic syndrome (n = 65, 60.7% women; mean age 33.5 ± 9.4 years; range 18-68). Most common syndromes were trisomy 21 (n = 49; 45.8%) and 22q11.2 deletion (n = 27; 25.2%); 31 patients (30.0) had rarer syndromes. Predominant CHD diagnoses were atrioventricular septal defect (n = 42, 39.3%), tetralogy of Fallot (n = 19, 17.8%), and pulmonary atresia with ventricular septal defect (n = 7, 6.5%). A systemic left ventricle was present in 102 (95.3%); 40 (37.4%) had primarily cyanotic CHD, and 7 (6.5%) an Eisenmenger physiology. Most patients (n = 71; 66.4%) had undergone definite surgical repair; 25 patients (23.3%) had at least one catheter intervention, including transcatheter valve implantation in 17 cases (15.9%). HF stage was mainly B (n = 30, 28.0%) or C (n = 75, 70.1%). Perloff functional class I/II was present in 97 (90.7%). Leading cardiac comorbidities included intrinsic aortopathy (n = 49, 45.8%), pulmonary arterial hypertension (n = 12, 11.2%), and arrhythmias (n = 10, 9.3%). Frequent extracardiac comorbidities were thyroid dysfunction (n = 34, 31.8%), kidney disease (n = 16, 15.0%), hyperuricemia (n = 13, 12.1%), and depression (n = 15, 14.0%). Pharmacotherapy was used in 66 patients (61.7%). Beta-blockers (n = 25, 23.4%) were common, while ACEi/ARB (n = 9, 8.4%), diuretics (n = 10, 9.3%), MRAs (n = 8, 7.5%), and SGLT2 inhibitors (n = 3; 2.8%) were infrequently prescribed; no patient received ARNI or digitalis. For targeted treatment of pulmonary arterial hypertension, phosphodiesterase-5 inhibitors (n = 7, 6.5%), endothelin receptor antagonists (n = 6, 5.6%), or prostacyclin analogues (n = 1, 0.9%) were used. As oral anticoagulants, vitamin K antagonists or direct oral anticoagulants (DOACs) were prescribed in 17 cases (15.9%). Forty-one patients (38.3%) received thyroid hormone replacement. Conclusions: Syndromic ACHD constitute a small but clinically high-risk subgroup within an HF-oriented registry, marked by complex CHD, substantial cardio-extracardiac multimorbidity (notably aortopathy, PAH, thyroid disease, renal dysfunction, depression), and low utilization of contemporary HF therapies. These data support specialized, interdisciplinary, longitudinal care pathways and prospective studies addressing outcomes and evidence-based HF management in syndromic ACHD.

INTRODUCTION AND OBJECTIVES:Stent implantation is an established treatment for aortic coarctation (CoA) in adults. In pediatric patients, however, ongoing somatic growth necessitates repeated stent redilations, and the optimal timing of these procedures remains undefined. This retrospective study aimed to identify an objective association between stent diameter and body growth parameters, thereby providing a basis for prognostic assessment and structured planning of redilation strategies. METHODS:In the derivation cohort, all stent implantations and redilations performed in 155 patients younger than 20 years with CoA at a tertiary center were analyzed (218 interventions; median age 10.1 years, IQR, 3.4-14.4). The findings were subsequently validated in an independent validation cohort from another tertiary center, comprising 198 patients (323 interventions; median age 7.5 years, IQR, 1.3-14.6). RESULTS:To assess the association between stent diameter and body growth parameters, correlation analyses were performed. Despite interindividual variability, a significant linear correlation between stent diameter and body height was identified (τ: 0.737, P≤.001) and this finding was confirmed in the validation cohort. Based on this relationship, a formula, f(x)=0.0831·x+1.86, where x represents body height, was derived to estimate the appropriate stent diameter. This formula yields minimum and maximum reference body heights for each stent diameter, which are reached at different ages depending on individual growth velocity. These results were subsequently translated into sex-specific reference tables. CONCLUSIONS:The derived formula enables prediction of the required stent diameter and the anticipated number of subsequent catheter-based procedures, thereby supporting rapid estimation of intervention timing throughout somatic growth.

Background Epicardial pacemaker lead implantation in patients with univentricular circulation following total cavopulmonary connection with an extracardiac conduit and without fenestration necessitates median sternotomy. Transvenous access, although possible and previously described, may be technically challenging in this population and carries an increased risk of lead‐related thrombosis within the subsystemic atrium or ventricle. Surgical implantation usually requires mechanical ventilation and is associated with procedural morbidity. A percutaneous approach represents a minimally invasive treatment option that can be applied in this subgroup and in selected patients with biventricular circulation. We report on 9 patients in whom a pacemaker lead was implanted percutaneously with the use of a puncture sheath. Methods Patients with pacemaker indications and anatomic constraints precluding conventional transvenous access underwent computed tomographic imaging for procedural planning. Eight patients had single‐ventricle physiology, and 1 patient had biventricular circulation with severely impaired ventricular function. Results Percutaneous pacemaker lead implantation was successful in all 9 patients. The median age was 11.2 (range, 6.0–43.8) years, and median weight was 22.0 (range, 19.9–68.5) kg. In 6 patients, the puncture was performed via the subxyphoidal approach, in 1 patient via the transthoracic approach, and in 2 patients, venous access was used (subclavian vein, n=1; internal jugular vein, n=1). The median follow‐up time was 26.5 (range, 0.1–64.8) months. Only 1 patient required reintervention for lead dysfunction after 26 months; in all others, lead thresholds remained stable. Conclusions Percutaneous intramyocardial and intracavitary pacemaker lead implantation is feasible and may obviate the need for surgery. However, in selected cases, identifying a suitable landing zone may be challenging due to prior surgical interventions, scarring, or fibrosis.

BACKGROUND:Patients with congenital or acquired right ventricular outflow tract dysfunction frequently require pulmonary valve replacement and are exposed to repeated surgical interventions due to prosthetic valve degeneration. The PULSTA self-expanding transcatheter pulmonary valve was designed to address a broad spectrum of native and surgically repaired right ventricular outflow tract anatomies. This study reports the midterm safety, hemodynamic performance, and durability outcomes of the prospective, multinational PULSTA CE approval trial (PULSTA Carpentier Edwards). METHODS:This premarket, multicenter, nonrandomized study enrolled 58 patients across 11 centers in 6 countries. Successful PULSTA implantation was achieved in 57 patients (98.3%), including 4 valve-in-valve procedures. Patients were followed for a median duration of 4.1 years. Primary end points included procedural or device-related serious adverse events, hemodynamic improvement, and sustained valve function. RESULTS:At 6 months, cardiac magnetic resonance imaging demonstrated significant reverse right ventricular remodeling, with marked reductions in right ventricular end-diastolic volume index, end-systolic volume index, and pulmonary regurgitation fraction (all P<0.001). Valve performance remained stable throughout follow-up, with 93.8% of patients exhibiting mild or less pulmonary regurgitation at 4.1 years. Freedom from reintervention was 98.2% at 5 years. One patient required a PULSTA-in-PULSTA implantation due to paravalvular leakage, and one case of infective endocarditis was successfully managed with antibiotic therapy. No stent fractures or structural valve deterioration were observed. CONCLUSIONS:The PULSTA transcatheter pulmonary valve demonstrated high procedural success, durable valve function, and sustained hemodynamic benefits. Its adaptability to diverse right ventricular outflow tract anatomies and favorable safety profile supports its role as an effective therapeutic option for patients with right ventricular outflow tract dysfunction. REGISTRATION:URL: https://www.clinicaltrials.gov; Unique identifier: NCT03983512.

We report on an adult patient with severe bioprosthesis stenosis and patient-prosthesis mismatch who was treated by percutaneous pulmonary valve implantation (PPVI) preceded by covered stent implantation and valve cracking, using a high-pressure balloon, 5 mm larger than the internal bioprosthesis valve diameter. Although the hemodynamic result was satisfactory, the patient developed pericardial and right pleural hematoma, which was treated successfully by surgical emergency means. Caution is advised when the fracture of a dysfunctional surgical bioprosthesis is intended with high-pressure dilatations using significantly bigger balloons than the labeled valve size.

Introducción y objetivos: El implante de stents es un tratamiento consolidado para la coartación aórtica (CoA) en adultos. Sin embargo, el crecimiento somático continuo en pacientes pediátricos requiere de redilataciones repetidas, y el momento óptimo para realizar estas intervenciones sigue sin definirse. El objetivo de este estudio retrospectivo fue identificar una asociación objetiva entre el diámetro del stent y los parámetros de crecimiento corporal, lo que proporcionaría una base para la evaluación pronóstica y la planificación estructurada de estrategias de redilatación.Métodos: En la primera parte, se analizaron todos los implantes de stents y redilataciones realizados en 155 pacientes menores de 20 años con CoA en un centro terciario (218 intervenciones; edad media de 10,1 años; RIC, 3,4-14,4). Posteriormente, los resultados se validaron en una cohorte independiente de otro centro terciario, compuesta por 198 pacientes (323 intervenciones; mediana de edad de 7,5 años; RIC, 1,3-14,6).Resultados: Para encontrar una asociación entre el diámetro del stent y los diferentes parámetros corporales, se realizó un análisis de correlación de los datos. A pesar de la variabilidad interindividual, se encontró una correlación lineal significativa entre el diámetro del stent y la altura (τ = 0,737, p ≤ 0,001). Este hallazgo se confirmó durante la validación. Posteriormente, se derivó una fórmula f(x) = 0,0831 • x + 1,86, donde x representa la altura, para calcular el diámetro del stent. Esta fórmula proporciona una altura mínima y máxima de referencia para cada diámetro de stent, que se alcanza a diferentes edades en niños con distintas velocidades de crecimiento. Estos hallazgos se tradujeron en tablas de referencia específicas por sexo.Conclusiones: La fórmula derivada permite predecir el diámetro necesario del stent y el número previsto de procedimientos posteriores con catéter, lo que facilita una estimación rápida del momento adecuado para la intervención a lo largo del crecimiento somático.

INTRODUCTION AND OBJECTIVES:Stent implantation has become the gold standard for the treatment of native coarctation of the aorta (CoA) and recurrent CoA in adolescents and adults. In smaller children, however, stent implantation remains technically challenging due to anatomical constraints and growth considerations. Furthermore, data on the optimal treatment strategy in this age group are still limited. This study retrospectively analyzed clinical outcomes in young children treated with stent implantation for recurrent aortic arch stenosis. METHODS:A total of 101 patients (63 male; 62%) with a body weight of less than 15kg were treated with endovascular stent implantation for restenosis of the reconstructed aortic arch (n=94; 93%) or native CoA (n=7; 7%). The median age at the time of stent implantation was 4.8 months (IQR, 3.2-9.6 months) with a median body weight of 5.9kg (IQR, 4.7-8.4kg). The median follow-up period was 46.4 months (IQR, 11.0-76.6 months). RESULTS:All procedures were successful, and no serious complications occurred. The peak-to-peak gradient decreased significantly from a median of 32.5mmHg (IQR, 17.3-46.0mmHg) to 0.0mmHg (IQR, 0.0-2.5mmHg; P<.005). The diameter of the narrow segment increased from a median of 3.0mm (IQR, 2.0-4.0mm) to 6.9mm (IQR, 6.0-8.0mm; P<.005). During follow-up, none of the patients required reoperation. CONCLUSIONS:Stent implantation is a safe and feasible treatment option in patients with restenosis after complex aortic arch reconstruction or native CoA in whom surgical treatment would pose an elevated risk of complications. However, repeated dilatations and, ultimately, intentional stent fracture are required during follow-up.

BACKGROUND:In patients with right ventricular (RV) outflow tract stenosis and pulmonary regurgitation (PR), percutaneous pulmonary valve implantation (PPVI) aims to preserve RV and left ventricular (LV) integrity and function. Our study aimed to assess acute changes in biventricular intrinsic myocardial function occurring with PPVI. METHODS:Twenty patients with RV outflow tract dysfunction (mean±1 SD; age, 23.0±10.9 years; mean peak echocardiographic RV outflow tract gradient, 64±25 mm Hg) underwent PPVI with biventricular assessment of pressure-volume loops using the conductance catheter technique during the same cardiac catheterization. Load-independent parameters of ventricular contractility (ventricular elastance) and ventricular compliance function, as well as pulmonary/systemic arterial elastance and ventriculoarterial coupling, were assessed before and directly after PPVI. Cardiac magnetic resonance for quantification of biventricular volumes, function, and PR was also performed. RESULTS:After PPVI, both RV ventricular elastance (median [interquartile range], 0.26 [0.16-0.83] to 0.19 [0.13-0.42] mm Hg/mL per m2; P=0.029) and pulmonary systemic arterial elastance (0.32±0.20 to 0.25±0.19 mm Hg/mL per m2; P<0.001) decreased significantly, while right ventriculoarterial coupling (1.14±0.61 to 1.10±0.59; P=0.76) did not change statistically significant. LV ventricular elastance (1.31±0.93 to 1.23±0.72 mm Hg/mL per m2; P=0.68) and left ventriculoarterial coupling (0.75 [0.51-1.23] to 0.82 [0.53-1.10]; P=0.98) were not affected by PPVI although systemic arterial elastance increased significantly (0.83±0.26 to 0.90±0.34 mm Hg/mL per m2; P=0.032). Both RV (P=0.37) and LV (P=0.20) compliance showed no significant change after PPVI. Patients with relevant PR (≥25%; n=10) had lower RV ventricular elastance (P=0.043) before and higher LV compliance (P=0.010) after PPVI compared with patients with minor PR (<25%; n=10), whereas ventriculoarterial coupling was similar between the 2 groups. CONCLUSIONS:Acute reduction of RV overload by PPVI is accompanied by an instantaneous decline in RV contractility with persistent and inefficient ventriculoarterial coupling. The LV adequately adapts to an increase in pre- and post-load with nonsignificant changes in LV intrinsic function and ventriculoarterial coupling. The relevance of these response patterns on long-term biventricular remodeling requires further investigation.

Introducción y objetivos El implante de stent se ha convertido en el tratamiento de referencia de la coartación aórtica (CoA) nativa y la CoA recurrente en adolescentes y adultos. Sin embargo, en los niños más pequeños, el implante de stent sigue siendo un reto técnico debido a las limitaciones anatómicas y al crecimiento. Además, los datos sobre la estrategia de tratamiento óptima en este grupo de edad siguen siendo limitados. Este estudio analizó retrospectivamente los resultados clínicos en niños pequeños tratados con implante de stent para la estenosis recurrente del arco aórtico. Métodos Se trató a 101 pacientes (63 varones; 62%) con un peso corporal inferior a 15kg con implante de stent por reestenosis del arco aórtico reconstruido (n=94; 93%) o de la CoA nativa (n=7; 7%). La mediana de edad en el momento del implante fue de 4,8 meses (RIC, 3,2-9,6 meses) con una mediana de peso corporal de 5,9kg (RIC, 4,7-8,4kg). La mediana de seguimiento fue de 46,4 meses (RIC, 11,0-76,6 meses). Resultados Todos los procedimientos fueron satisfactorios y no se produjeron complicaciones graves. El gradiente pico-pico disminuyó significativamente de una mediana de 32,5mmHg (RIC, 17,3-46,0mmHg) a una mediana de 0,0mmHg (RIC, 0,0-2,5mmHg; p<0,005). El segmento estrecho se dilató de una mediana de 3,0mm (RIC, 2,0-4,0mm) a 6,9mm (RIC, 6,0-8,0mm; p<0,005). Durante el seguimiento, ningún paciente requirió reintervención. Conclusiones El implante de stent es una modalidad de tratamiento segura y factible en pacientes con reestenosis tras una reconstrucción compleja del arco aórtico o CoA nativa en los que el tratamiento quirúrgico supondría un elevado riesgo de presentar complicaciones. Sin embargo, durante el seguimiento son necesarias dilataciones repetidas y, en última instancia, la fractura intencionada de los stents.

Alcohol septal ablation is a well-established treatment method for patients with hypertrophic cardiomyopathy. We present a case report of a patient with transposition of the great arteries (TGA) after a Mustard procedure, who developed significant right ventricular outflow tract obstruction (RVOTO), functionally resembling subaortic stenosis. Given the high surgical risk, interventional alcohol ablation of the conus branch of the right coronary artery (RCA) was successfully performed, resulting in a significant decrease in the pressure gradient.

Background Aortic coarctation (CoA) is a congenital anomaly leading to upper-body hypertension and lower-body hypotension. Despite surgical or interventional treatment, arterial hypertension may develop and contribute to morbidity and mortality. Conventional blood pressure (BP) measurement methods lack precision for individual diagnoses and therapeutic decisions. This study evaluated the use of artificial intelligence-based pulse wave analysis (AI-PWA) to assess central aortic blood pressure (CABP) and related parameters in post-treatment CoA patients.Methods This exploratory, cross-sectional study enrolled 47 adults with CoA, between June 2023 and May 2024. Peripheral BP (PBP) was conventionally measured, and CABP was assessed using the VascAssist2 (inmediQ, Butzbach, Germany). Hypertension was defined by systolic BP≥140 mm Hg and/or diastolic BP≥90 mm Hg for PBP. Using AI-PWA, patients with systolic CABP≥130 mm Hg and/or diastolic BP≥90 mm Hg were classified as hypertensive.Results The study cohort’s age was 41.5±13.7 years, with all patients having undergone previous aortic surgery or intervention. PBP measurements showed a systolic BP of 135.4±14.4 mm Hg at the upper and 147.8±20.3 mm Hg at the lower extremities. CABP measurements were significantly lower, with a systolic BP of 114.3±15.8 mm Hg (p<0.001). Overall, 32 patients (68.1%) were diagnosed as hypertensive, either by PBP measurement (n=13/27.7%), because of antihypertensive treatment (n=9; 40.4%), or a combination of both. The measurement of PBP was more likely to indicate arterial hypertension than the measurement of CABP (n=12; 25.5% vs n=4; 8.5%). Pulse wave velocity, indicative of aortic stiffness, averaged 9.1 m/s, with higher values in 13 patients (27.7%), including 4 after end–end anastomosis, 2 after graft interposition and 7 after stent placement/angioplasty as the most recent procedure. An increased augmentation index as an indicator of arterial stiffness was observed in nine patients (19.1%). Comparing PBP and CABP in the entire collective, significant differences were found for CABP in relation to the procedure performed, with higher values in patients after prosthesis interposition as their last treatment (p<0.05).Conclusion AI-PWA provides valuable insights into cardiovascular stress in CoA patients, beyond PBP measurements. The study highlights the need to incorporate CABP measurements into clinical practice to avoid overdiagnosis of hypertension. Further research with larger cohorts is needed to validate these findings and refine management strategies for CoA patients.

Background Creation of a partial cavopulmonary anasthomosis in patients with isolated right-sided heart failure or patients with cyanosis and intracardial right-to-left shunt and reduced blood flow in the pulmonary circulation may provide a significant improvement in exercise capacity and also facilitate the performance of activities of daily living in patients with a deteriorated clinical condition. However, surgical partial cavopulmonary connection creation may be a high-risk procedure in this patient group. An interventional partial cavopulmonary connection may provide a less invasive treatment modality for these patients. The aim of the study was a retrospective evaluation of patients who underwent the creation of an interventional partial cavopulmonary connection.Methods Each patient who was qualified for treatment underwent a preinterventional computed tomography scan with 3-dimensional reconstruction for improved procedure planning. As a preparation preceding the interventional partial cavopulmonary connection, a prestent (bare metal stent) was implanted into the superior vena cava during cardiac catheterization in most cases. The perforation was performed with the use of needle punctures as a straightforward method in all cases. Thereafter, a covered stent was implanted, connecting the superior vena cava and the right pulmonary artery.Results Between July 2019 and July 2024, 14 patients (male n=6, 43%) underwent an interventional partial cavopulmonary connection. The indication for treatment was deteriorated clinical condition (n=12, 86%) or significant cyanosis (n=2, 14%). The procedure was performed successfully in all cases. The median follow-up time was 19.8 months (minimum 2.7; maximum 65.6).Conclusions Our study shows that transcatheter creation of partial cavopulmonary connection provides a promising treatment modality for selected adult patients with right-sided heart failure and may lead to clinical improvement in this patient group.

BACKGROUND:Right ventricular outflow tract stenting is a palliative treatment option in symptomatic infants with tetralogy of Fallot or with pulmonary atresia with ventricular septal defect. Predominantly bare metal stents are used for this procedure. The authors sought to assess the efficacy and safety of using the covered coronary stent grafts for the right ventricular outflow tract stenting. METHODS:Between November 2017 and July 2021, the covered coronary stent graft was used to widen the right ventricular outflow tract in 20 symptomatic patients (pulmonary atresia with ventricular septal defect n = 5, tetralogy of Fallot n = 15). RESULTS:All stent grafts were implanted successfully. The median time of palliation was 156 (43-1578) days. Eleven patients required stent redilation. Fifteen patients required additional stent implantation to relieve a proximal obstruction in the right ventricular outflow tract. There were three complications observed: right ventricular outflow tract perforation (n = 1), stent embolisation (n = 1), and main pulmonary aneurysm (n = 1). Oxygen saturation improved immediately after the procedure. During the follow-up time, all stents were patent, and we observed a significant increase in the diameters of the pulmonary arteries. Sixteen patients had corrective surgery performed with complete and easy removal of the implanted stents. CONCLUSIONS:Stenting of the right ventricular outflow tract with stent grafts was safe and effective and provided a durable method of palliation. Utilisation of the covered coronary stent graft facilitated surgical removal of the implanted stent during the surgical correction.

The number of adults with congenital heart defects (ACHDs) is steadily increasing and is about 360,000 in Germany. Congenital heart defect (CHD) is often associated with pulmonary hypertension (PH), which sometimes develops early in untreated CHD. Despite timely treatment of CHD, PH not infrequently persists, redevelops in older age, and is associated with significant morbidity and mortality. The revised European Society of Cardiology (ESC)/European Respiratory Society (ERS) 2022 guidelines for the diagnosis and treatment of PH represent a significant contribution to the optimized care of those affected. However, the topic of "adults with congenital heart defects" is treated only relatively superficially in this context. After the first part commenting on a broad range of topics like definition, epidemiology, classification, diagnostics, genetics, risk stratification and follow-up, and gender aspects, the second part focuses on supportive therapy, special situations (pregnancy, contraception, non-cardiac surgery), targeted pharmacotherapy, organ transplantation, special management [shunt lesion, left ventricular (LV) disease, univentricular hearts], interventions, intensive care, ACHD follow-up, and future perspective. In the present article, therefore, this topic is commented on from the perspective of congenital cardiology. By examining these aspects in detail, this article aims to fill the gaps in the existing guidelines and provide a more thorough understanding from the perspective of congenital cardiology.