Judith Bouchardy

Unrestrictive Aortopulmonary Window Extreme Presentation as Non-Eisenmenger in a 30-Year-Old Patient

A 30-year-old woman was referred for management of an aortopulmonary window. Her history was notable for chronic atrial fibrillation treated by amiodarone and Coumadin anticoagulation. Peripheral oxygen saturation was 95%. A chest x-ray film showed cardiomegaly, bilateral prominent hilar vascularization, and interstitial edema (Figure 1). The echocardiogram showed a large, 15-mm aortopulmonary (AP) window, ≈25 mm above the aortic valve annulus between the ascending aorta and main pulmonary artery (type I) with an unrestrictive, exclusively left-right shunt and a peak gradient of 30 mm Hg (Figure 2). There was no aortic coarctation or interruption of the aortic arch, and the main pulmonary artery (3.3 cm) was dilated to a size equal to the aortic root, with dilated branch pulmonary arteries (2.3 cm each). The left atrium was severely dilated (45 cm2), as was the left ventricle (end-diastolic diameter, 7.5 cm; indexed, 5.2 cm/m2). There was moderate mitral regurgitation (regurgitation volume, 26.6 mL; proximal isovelocity surface area convergence radius, 6.8 mm) attributable to annular dilatation. The biventricular systolic function was normal. The right ventricular systolic pressure was estimated at 63.3 mm Hg by the gradient of the tricuspid regurgitation jet. Cardiac MRI confirmed these findings (Figure 3 …

Effect of phosphodiesterase-5 inhibition with Tadalafil on SystEmic Right VEntricular size and function – A multi-center, double-blind, randomized, placebo-controlled clinical trial – SERVE trial - Rational and design

BACKGROUND Patients with a systemic right ventricle (RV) have a compromised late outcome caused by ventricular dysfunction. Standard medical heart failure therapy has not been shown to improve RV function and survival in these patients. Phosphodiesterase (PDE)-5 inhibition increases contractility in experimental models of RV hypertrophy, but not in the normal RV. In clinical practice, the effects of PDE-5 inhibition on systemic RV function and exercise capacity in adults with a systemic RV have not been tested. METHODS The SERVE protocol is a double-blind, randomized placebo-controlled multicenter superiority trial to study the effect of PDE-5 inhibition with Tadalafil on RV volumes and function in patients with either D-transposition of the great arteries repaired with an atrial switch procedure or with congenitally corrected transposition of the great arteries. Tadalafil 20mg or placebo will be given over a study period of 3years. The primary endpoint is the change in mean end-systolic RV volumes from baseline to study end at 3years of follow-up (or at the time of permanent discontinuation of the randomized treatment if stopped before 3- years of follow-up), and will be measured by cardiovascular magnetic resonance imaging (CMR) or by cardiac computed tomography in patients with contraindications for CMR. Secondary endpoints are changes in RV ejection fraction, VO2max and NT-proBNP. CONCLUSION The objective of this study is to assess the effect of PDE-5 inhibition with Tadalafil on RV size and function, exercise capacity and neurohumoral activation in adults with a systemic RV over a 3-year follow-up period.

EXPRESS: The impact of trisomy 21 on treatment modalities and outcome in adults with congenital heart disease in Switzerland

Trisomy 21 (T21) is associated in 40–45% of cases with heart defects, most commonly shunt lesions. These defects, if not repaired, can lead to irreversible shunt-induced pulmonary hypertension (i.e. Eisenmenger syndrome [ES]). In ES patients, intracardiac repair is no longer possible, but selective pulmonary vasodilators may increase exercise capacity and improve prognosis. This study aimed to estimate the prevalence of cardiac defects and ES in adult T21 patients and to assess the impact of T21 on treatment modalities and outcome in ES patients. A questionnaire was sent to 6906 Swiss physicians inviting them to indicate the number of adults with T21 under their care (survey report). We also analyzed all adults with ES (with and without T21) included in the Swiss Adult Congenital HEart disease Registry (SACHER) and studied the impact of T21 on the use of selective pulmonary vasodilators and survival. In the survey, 348 physicians cared for 695 adult T21 patients. Overall, 24% of T21 survey patients were known to have a cardiac defect, one in four with a defect had developed ES and 13% of those with ES were on specific pulmonary vasodilators. In SACHER, ES was present in 2% of adults with congenital heart disease and selective pulmonary vasodilators were used in 68% of ES patients with T21. In SACHER, survival during follow-up was worse with higher nt-proBNP levels (hazard ratio [HR] = 1.15 per 1000 units, 95% confidence interval [CI] = 1.02–1.29) and lower left ventricular ejection fraction (HR = 1.07 per percent decrease, 95% CI = 1.01–1.13). Age at inclusion and T21 did not affect survival. The prevalence of cardiac defects in adults with T21 in Switzerland is half the prevalence in children. T21 is over-represented among adults with ES. Raised awareness of the therapeutic options for T21 patients with ES is warranted.

Anticoagulation practices in adults with congenital heart disease and atrial arrhythmias in Switzerland

BACKGROUND In adults with congenital heart disease (CHD) and atrial arrhythmias, recommendations for thromboprophylaxis are vague and evidence is lacking. We aimed to identify factors that influence decision-making in daily practice. METHODS From the Swiss Adult Congenital HEart disease Registry (SACHER) we identified 241 patients with either atrial fibrillation (Afib) or atrial flutter/intraatrial reentrant tachycardia (Aflut/IART). The mode of anticoagulation was reviewed. Logistic regression models were used to assess factors that were associated with oral anticoagulation therapy. RESULTS Compared with patients with Aflut/IART, patients with Afib were older (51 ± 16.1 vs 37 ± 16 years, P < .001) and had a higher CHA2 DS2 -VASc (P < .001) and HAS-BLED scores (P = .005). Patients with Afib were more likely on oral anticoagulation than patients with Aflut/IART (67% vs 43%, P < .001). In a multivariate logistic regression model, age [odds ratio (OR) 1.03 per year, 95%CI (1.01-1.05), P = .019], atrial fibrillation [OR 2.75, 95%CI (1.30-5.08), P = .007], non-paroxysmal atrial arrhythmias [OR 5.33, 95%CI (2.21-12.85)], CHA2 DS2 -VASc-Score >1 [OR 2.93, 95%CI (1.87-4.61), P < .001], and Fontan palliation [OR 17.5, 95%CI (5.57-54.97), P < .001] were independently associated with oral anticoagulation treatment, whereas a HAS-BLED score >1 was associated with absence of thromboprophylaxis [OR 0.32, 95%CI (0.17-0.60), P < .001]. CONCLUSIONS In this multicenter study, age, type, and duration of atrial arrhythmias, CHA2 DS2 -VASc and HAS-BLED scores as well as a Fontan palliation had an impact on the use of thromboprophylaxis in adult CHD patients with atrial arrhythmias. In daily practice, anticoagulation strategies differ between patients with Afib and those with Aflut/IART. Prospective observational studies are necessary to clarify whether this attitude is justified.

Patterns of incidence rates of cardiac complications in patients with congenital heart disease

BACKGROUND This study aimed to evaluate age at the first onset of cardiac complications and variation of frequency of complications between different congenital heart defects. METHODS The analysis included participants of the Swiss Adult Congenital Heart Disease Registry (SACHER). For this study, cardiac complications up to the time of inclusion in SACHER were analysed. Complications included atrial fibrillation, atrial flutter, supraventricular tachycardia, ventricular tachycardia, complete heart block, heart failure, stroke, endocarditis, myocardial infarction, and pulmonary hypertension. Incidence rates (IR; incidence rate per 1000 patient-years) for different age categories and diagnosis groups were analysed. RESULTS Of 2731 patients (55% male, mean age 34 ± 14 years, 92,349 patient-years), a total of 767 (28%) had experienced at least 1 cardiac complication. The majority of complications (550; 72%) occurred in adulthood (> 18 years). Apart from perioperative stroke (IR: 1.77 in age group ≤ 4 years) and complete heart block (IR: 2.36 in age group ≤ 4 years), IR were much lower in childhood (IR < 1 for all complications between 5 and 17 years). Incidence of cardiac complications increased during adult life with highest IR for atrial fibrillation and atrial flutter in the age group ≥ 50 years (IR: 17.6 and 9.7, respectively). There were important variations of the distribution of complications among different diagnosis groups. CONCLUSIONS Cardiac complications are frequent in congenital heart disease. Apart from perioperative stroke and complete heart block, IR are low in childhood but the incidence increases during adult life. These data underscore the need of lifelong follow-up and may help for better allocation of resources maintaining follow-up.

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.