Swiss Adult Congenital HEart disease Registry (SACHER) - rationale, design and first results.

BACKGROUND: In 2013, a prospective registry for adults with congenital heart disease (CHD) was established in Switzerland, providing detailed data on disease characteristics and outcomes: Swiss Adult Congenital HEart disease Registry (SACHER). Its aim is to improve the knowledge base of outcomes in adults with CHD. The registry design and baseline patient characteristics are reported. METHODS: All patients with structural congenital heart defects or hereditary aortopathies, followed-up at dedicated adult CHD clinics, are asked to participate in SACHER. Data of participants are pseudonymised and collected in an electronic, web-based, database (secuTrial®). Collected data include detailed diagnosis, type of repair procedures, previous complications and adverse outcomes during follow-up. RESULTS: From May 2014 to December 2016, 2836 patients (54% male, mean age 34 ± 14 years), with a wide variety of congenital heart lesions, have been enrolled into SACHER. Most prevalent were valve lesions (25%), followed by shunt lesions (22%), cyanotic and other complex congenital heart disease (16%), diseases affecting the right heart, i.e., tetralogy of Fallot or Ebstein anomaly (15%), and diseases of the left ventricular outflow tract (13%); 337 patients (12%) had concomitant congenital syndromes. The majority had undergone previous repair procedures (71%), 47% of those had one or more reinterventions. CONCLUSION: SACHER collects multicentre data on adults with CHD. Its structure enables prospective data analysis to assess detailed, lesion-specific outcomes with the aim to finally improve long-term outcomes.

Impact of growing cohorts of adults with con-genital heart disease on clinical workload: a 20-year experience at a tertiary care centre.

BACKGROUND: Population based studies show a steady increase in adult patients with congenital heart defects. The aim of this study was to assess the evolution of such a patient cohort and its burden on clinical care at a dedicated tertiary care centre. METHODS: All patients with congenital heart disease followed up by a dedicated multidisciplinary team at our institution were identified (n = 1725). Disease characteristics, the increase in patient numbers and interventions and the increase in selected complications were analysed and compared between the first (1996-2005) and second (2006-2015) decades of the study period. RESULTS: Between the two decades of the study period, the number of patients in follow-up increased by 109%, the number of patients who died or underwent transplantation more than doubled and the number of outpatient visits increased by 195%. One fourth of all patients underwent at least one surgical procedure and 14% had at least one percutaneous intervention. The increase in surgical procedures between the two decades was 27% and the increase in percutaneous interventions 159%. Between the two decades the number of patients requiring direct current cardioversion increased from 32 to 95 (+197%), the number of patients requiring admission for infective endocarditis increased from 7 to 29 (+314%) and the number of women followed up during pregnancy increased from 18 to 115 (+539%). CONCLUSION: As a result of the increasing number and complexity of adult survivors with congenital heart disease more resources will be needed to cope with the demands of this novel cohort of complex patients in adult cardiology.

Burden and impact of congenital syndromes and comorbidities among adults with congenital heart disease.

BACKGROUND: Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. METHODS: Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed. RESULTS: Within the study cohort, 232 patients (13%) had a genetic syndrome, 51% at least one comorbidity and 23% ≥2 comorbidities. Most prevalent comorbidities were systemic arterial hypertension (11%), thyroid dysfunction (9%), psychiatric disorders (9%), neurologic disorders (7%), chronic lung disease (7%), and previous stroke (6%). In contrast to higher congenital heart defect complexity, the presence of comorbidities had no impact on living circumstances but patients with comorbidities were less likely to work full-time. Atrial arrhythmias were more common among patients with moderate/great disease complexity and those with comorbidities but were less common among patients with congenital syndromes (p<0.01 for all comparisons). Patients with ≥2 comorbidities had lower survival estimates compared to those with ≤1 comorbidity (p=0.013). CONCLUSION: Congenital syndromes and comorbidities are highly prevalent in adults with congenital heart disease followed at specialist centers and add to the overall complexity of care. The presence of these additional factors has an impact on living circumstances, is associated with arrhythmias and needs to be further explored as prognostic markers.

High prevalence of baffle leaks in adults after atrial switch operations for transposition of the great arteries.

AIMS: To determine the prevalence of baffle leaks in adults after atrial switch operations for transposition of the great arteries, as these may predispose to paradoxical embolic events, particularly in patients with transvenous pacemaker or defibrillator leads. METHODS AND RESULTS: We routinely perform contrast echocardiography with agitated saline in all patients after atrial switch operations. For this study, we analysed patients who had saline contrast echocardiography between 2010 and 2012. The presence of baffle leaks and the severity of right-to-left shunting were assessed. We compared baseline characteristics and oxygen saturation at rest and during exercise between patients with and without baffle leaks. A total of 65 patients (56 Senning and 9 Mustard repair) without previously known baffle leaks were included (mean age 32 ± 8 years, 77% males). Right-to-left shunting was identified in 42 patients (65%) and occurred without provocation manoeuvres in 88%. There were no differences in baseline characteristics, echocardiographic findings, or exercise capacity between patients with and without baffle leaks, except for lower oxygen saturation at peak exercise in those with baffle leaks (29% had oxygen saturations below 90% at peak exercise compared to none without baffle leaks, P = 0.011). Four patients with baffle leaks had previous implantation of transvenous pacemaker leads; one of them had suffered a stroke. Two other patients with baffle leaks had a history of potential embolic stroke. CONCLUSIONS: Because of the high prevalence of baffle leaks in adults after atrial switch operations, we propose routine screening with agitated saline contrast, particularly prior to implantation of transvenous pacemaker or defibrillator leads.

Plasma levels of B-type natriuretic peptide in patients with tetralogy of Fallot after surgical repair.

OBJECTIVE: To evaluate the utility of plasma BNP measurement in the long term follow-up of patients with surgically repaired tetralogy of Fallot (TOF). METHODS: From 2002 to 2008, plasma BNP concentration was measured in 130 patients with TOF at the age of mean 16.1+/-7.1 years and mean 13.0+/-6.5 years after surgically repair. BNP levels were compared to age and gender-specific normal values, results of exercise testing, clinical, electrocardiographic, and echocardiographic data. RESULTS: BNP was <200 pg/ml in all and elevated in 60% of patients. Higher values were found in females (p=0.001), in patients waiting for pulmonary valve replacement (p<0.001), and in NYHA class II compared to NYHA I patients (p=0.012) with an inverse correlation between BNP and exercise time (r=-0.59, p<0.001). BNP was correlated with right ventricular dilatation (r=0.29, p=0.005) and severity of both tricuspid (r=0.22, p=0.015) and pulmonary regurgitation (r=0.20, p=0.029). Longitudinal data revealed increasing BNP levels before (p=0.04) and a BNP decrease after pulmonary valve replacement (p=0.03), but no change in patients without surgery. CONCLUSIONS: In patients with surgically repaired TOF, plasma BNP is significantly correlated with right ventricular volume load. In clinical practice a considerable overlap limits the estimation of right ventricular volume load by BNP, but longitudinal evaluation helps to appoint the appropriate timing of pulmonary valve replacement.

A heart within the heart: double-chambered left ventricle.

We describe a rare congenital anomaly in a 49-year-old woman who presented with palpitations and slightly reduced exercise capacity. A double-chambered left ventricle was suspected on echocardiography and confirmed by cardiac computed tomography scanning, cardiac magnet resonance imaging, and invasive angiography.

Pulsating thoracic tumor caused by extragenital endometriosis in a patient with Noonan syndrome.

We present the case of a 36-year-old woman with Noonan syndrome and congenital heart disease in whom extragenital endometriosis caused an extraordinarily large jelly-like paracardiac and abdominal mass. Protrusion through an intercostal space caused a pulsating subcutaneous tumor on the left lateral thoracic wall. The patient never complained of menstruation-related pain. Histology obtained during several prior surgical interventions had been inconclusive. Thus definitive diagnosis was delayed for years. A literature review revealed no known association between Noonan syndrome and endometriosis.