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Background Patients with a univentricular heart form a morphological heterogenous group of patients at the most severe end of the congenital heart disease (CHD) spectrum. Over the past decades, more awareness and knowledge has been raised on the genetic contributions to CHD. To date, only a limited number of genes have been identified in the hypoplastic heart, mainly in left-sided hypoplasia. There is still much more to be elucidated in this field. Case summary Here, we present a follow-up report of a case of an adult patient after Fontan palliation, born with a.o. tricuspid atresia with hypoplastic right ventricle and pulmonary stenosis. This patient encountered a myriad of late sequalae involving multiple organ systems during the course of his young adult life, including refractory protein losing enteropathy (PLE). Concomitant extracardiac anomalies, in addition to the complex CHD and its complications, prompted for genetic evaluation. Whole exome sequencing showed a variant of uncertain significance in the BRAF gene [NM_004333.4:c.1897T > C p.(Tyr633His)], associated with Noonan spectrum disorders, that is also infamous for lymphoedema and PLE. The variant regards an evolutionarily highly conserved amino acid and is assumed pathogenic according to all prediction programmes. The mutation was most likely de novo. Discussion Genetic screening can provide new insights in the complex and varied phenotype of the (adult) Fontan patient and in the myriad of complications encountered. Adult CHD cardiologists should be aware of genetic syndromes underlying a CHD, concomitant extracardiac anomalies, and a complex clinical course with a broad spectrum of late sequelae.

Aims Patients with a systemic right ventricle (sRV) in the context of transposition of the great arteries (TGA) after atrial switch or congenitally corrected TGA are prone to heart failure and arrhythmias. This study evaluated feasibility, patient adherence, and satisfaction of a smart technology-based care pathway for heart failure treatment optimization in these patients. Methods and results Patients with symptomatic sRV failure eligible for initiation of sacubitril/valsartan were provided with four smartphone compatible devices (blood pressure monitor, weight scale, step counter, and rhythm monitor) and were managed according to a smart technology-based care pathway. Biweekly sacubitril/valsartan titration visits were replaced by electronical visits, patients were advised to continue measurements at least weekly after titration. Data of 24 consecutive sRV patients (median age 47 years, 50% female) who participated in the smart technology-based care pathway were analysed. Median home-hospital distance was 65 km (maximum 227 km). Most patients (20, 83.3%) submitted weekly measurements; 100% submitted prior to electronical visits. Titration conventionally occurs during a hospital visit. By implementing eHealth smart technology, 68 such trips to hospital were replaced by virtual visits facilitated by remote monitoring. An eHealth questionnaire was completed by 22 patients (92%), and 96% expressed satisfaction. After titration, 30 instances of remote adjustment of heart failure medication in addition to scheduled outpatient clinic visits occurred, one (4%) heart failure admission followed, despite ambulant adjustments. Five patients (21%) sent in rhythm registrations (n = 17), of these 77% showed sinus rhythm, whereas supraventricular tachycardia was detected in the remaining four registrations. Conclusion These data suggest that implementation of a smart technology-based care pathway for optimization of medical treatment sRV failure is feasible with high measurement adherence and patient satisfaction.

Background Patients with transposition of the great arteries (TGA) after atrial switch or congenitally corrected TGA (ccTGA) are prone to systemic right ventricular (sRV) failure. Atrioventricular (AV)-conduction disturbances and tricuspid regurgitation aggravate the course of sRV dysfunction. Timely tricuspid valve (TV) surgery stabilizes sRV function. However, TV surgery is an independent risk for AV-block and ventricular pacing in non-congenital cardiothoracic surgery patients. Chronic subpulmonary ventricular pacing-induced dyssynchrony further contributes to sRV failure, potentially reducing the beneficial effects of the tricuspid valve surgery. Purpose The aim of this study is to explore the incidence, timing and functional consequences of AV-conduction block requiring ventricular pacing after TV surgery in sRV patients. Methods Consecutive adolescent and adult patients with a sRV who underwent TV surgery in the period 1989–2020 and follow-up at our tertiary care center were included in this observational cohort study. Patients who were Results Data of 28 patients (54% female, 57% ccTGA) was analysed (Figure). The mean age at surgery was 38±13 years, 5 patients (18%) received chronic ventricular pacing preoperatively. Mean follow-up was 9.7±6.8 years, during which 7 patients (25%) died and 3 (11%) underwent ventricular assist device implantation (VAD). Two patients died awaiting VAD/HTx, one patient died awaiting CRT upgrade. Seven (25%) patients underwent a re-operation, of which 3 (11%) TV replacement, 3 (11%) VAD and 1 (4%) pulmonary valve replacement. Of the 23 patients at risk of developing AV-block, 11 (48%) developed an indication for chronic ventricular pacing, of which 6 within 24 months postoperatively (4 before hospital discharge). Of the 21 patients with a device, 7 (25%) had successful resynchronization therapy (2 before TV surgery). Patients with chronic ventricular pacing had a wider QRS-duration (mean 121 ms vs 194 ms in those without pacing, p Conclusions Patients with a failing sRV who undergo TV surgery are prone to AV-conduction abnormalities with 48% of this group developing an indication for chronic ventricular pacing during follow-up. Pacing-induced dyssynchrony can further contribute to sRV dysfunction. Implantation of an epicardial sRV lead at the time of TV surgery for future CRT may be considered to attenuate the detrimental effects of subpulmonary ventricular pacing in this heart failure prone patient group with complex anatomy, limiting transvenous possibilities. Funding Acknowledgement Type of funding sources: None.

Background In patients with heart failure with low ejection fraction (EF) (≤35%) sacubitril/valsartan is proven to be beneficial. We aimed to assess the effects of sacubitril/valsartan in adult congenital heart disease patients with failing systemic right ventricle (sRV) in the setting of congenitally corrected transposition of the great arteries (TGA) or TGA after atrial switch. Purpose To evaluate the feasibility and effect of treatment with sacubitril/valsartan in patients with heart failure in the setting of a sRV on optimal medical heart failure treatment. Methods Data of patients with sRV failure (estimated RVEF ≤35%) treated with sacubitril/valsartan were analyzed. Patients were clinically evaluated at baseline and at six months after initiation of the highest tolerated dose. Results Fourteen patients completed six-month follow-up thus far, of which 6 female (42.8%) and 2 (14.3%) with congenitally corrected transposition of the great arteries (TGA). After 6 months, 9 patients (64.3%) were using the highest dose (97/103 mg twice daily) of sacubitril/valsartan. NT-proBNP was significantly lower after 3 months and after 6 months compared with baseline (64% of baseline, p=0.006 and 53% of baseline, p=0.001, respectively). The kidney function did not change significantly (creatinine at baseline 83.6±12.0 and at 6 months 88.5±13.87, p=0.141) and serum potassium remained within normal limits (4.28±0.36 and 4.49±0.30, p=0.007). There was no significant decrease in systolic blood pressure (p=0.960). The echocardiographic sRV fractional area change (FAC) improved (p=0.002) and Global Longitudinal Strain (GLS) showed a trend towards improvement (p=0.058). During the 6 months of treatment, the exercise capacity remained stable, there was no increase in diuretic use, no serious adverse events and no heart failure related admissions occurred. Conclusion Treatment of sRV heart failure patients with sacubitril/valsartan leads to a significant reduction in NT-proBNP and significant increase in FAC. All patients remained clinically stable and no heart failure related admissions or serious adverse events occurred. Changes after 6 months Funding Acknowledgement Type of funding source: None