Angela Oxenius

Medical Treatment of Aortic Aneurysms in Marfan Syndrome and other Heritable Conditions

Thoracic aortic aneurysms can be triggered by genetic disorders such as Marfan syndrome (MFS) and related aortic diseases as well as by inflammatory disorders such as giant cell arteritis or atherosclerosis. In all these conditions, cardiovascular risk factors, such as systemic arterial hypertension, may contribute to faster rate of aneurysm progression. Optimal medical management to prevent progressive aortic dilatation and aortic dissection is unknown. β-blockers have been the mainstay of medical treatment for many years despite limited evidence of beneficial effects. Recently, losartan, an angiotensin II type I receptor antagonist (ARB), has shown promising results in a mouse model of MFS and subsequently in humans with MFS and hence is increasingly used. Several ongoing trials comparing losartan to β-blockers and/or placebo will better define the role of ARBs in the near future. In addition, other medications, such as statins and tetracyclines have demonstrated potential benefit in experimental aortic aneurysm studies. Given the advances in our understanding of molecular mechanisms triggering aortic dilatation and dissection, individualized management tailored to the underlying genetic defect may be on the horizon of individualized medicine. We anticipate that ongoing research will address the question whether such genotype/pathogenesis-driven treatments can replace current phenotype/syndrome-driven strategies and whether other forms of aortopathies should be treated similarly. In this work, we review currently used and promising medical treatment options for patients with heritable aortic aneurysmal disorders.

Management and outcome of Ebstein's anomaly in children

OBJECTIVES To assess clinical presentation, treatment, and outcome of children with Ebsteins anomaly. BACKGROUND Data on long-term outcome of children with Ebsteins anomaly are scarce. METHODS Retrospective analysis of all children with Ebsteins anomaly treated between February, 1979 and January, 2009 in a single tertiary institution. Primary outcomes included patient survival and need for intervention, either cardiac surgery or catheter intervention. RESULTS A total of 42 patients were diagnosed with Ebsteins anomaly at a median age of 5 days ranging from 1 day to 11.7 years. Symptoms included cyanosis, heart murmur, and/or dyspnoea. Associated cardiac anomalies occurred in 90% of the patients. Average follow-up was 9.5 plus or minus 7.0 years. The overall mortality rate was 14%. Of the six patients, three died postnatally before treatment. Cardiac surgery and/or catheter-guided interventions were required in 33 patients (79%). Cardiac surgery was performed in 21 (50%) patients at a median age of 9.1 years (range 0.1-16.5 years), including biventricular repair in 13 (62%), one-and-a-half chamber repair in seven (33%), and a staged single-ventricle repair in one. Peri-operative mortality was 4%. Catheter-guided interventions consisted of device closure of an atrial septal defect in three cases and radiofrequency ablation of accessory pathways in nine patients. The estimated 10-year survival was 85.3 plus or minus 5.6%. CONCLUSION In children, Ebsteins anomaly is usually diagnosed in the first year of age. Even though children with Ebsteins anomaly often require an intervention, their peri-operative mortality is low and long-term survival is good. Symptomatic newborns requiring an intervention may have a worse outcome.

Unclear Swelling of the Popliteal Fossa Due to a Giant Pseudoaneurysm Associated with Osteochondroma

13-year-old boy (Videoclip; available at www.jpeds. com) developed mild swelling and pain in the left popliteal fossa with no obvious trauma after a bicycle our. The pain and swelling progressed over the next 2 weeks ntil the patient could no longer perform his daily activities. hysical examination revealed an indurated, 10 7 cm mass n the left popliteal fossa. No sensory or motor deficits were etected, and peripheral pulses were present. The boy’s hisory revealed multiple tibial and fibular osteochondromas. Radiography revealed an osteochondroma arising from he lower femur just above the left knee (Figure, A). Arthrocopy demonstrated normal anatomy of the menisci. A magetic resonance imaging (MRI) scan showed a popliteal artery ass of 5.4 5 10 cm, and an arteriogram showed a ontrast medium jet into a pseudoaneurysm arising from the nterior surface of the popliteal artery with distal patency Figure, B; Videoclip). During surgery, the popliteal artery was exposed hrough a medial, longitudinal incision, and the pseudoaneuysm was resected. The defect in the popliteal artery was losed with a xenopericardial patch. The postoperative course as uneventful, and the patient recovered completely. Osteochondromas are the most frequent benign bone umors, occurring in up to 2% of the population. They evelop in adolescence and may rarely present with vascular omplications, as in our case with unclear swelling of the opliteal fossa, leading to a giant pseudoaneurysm. The popiteal artery is fixed in Hunter’s canal and in its trifurcation, igure. A, Lateral X-ray of the distal femur showing an osteochondroma ( he popliteal artery (arrows) with formation of a giant pseudoaneurysm (aste

Isolation of the right subclavian artery in interrupted aortic arch

A 15-day-old newborn presented with cardiovascular shock. Upon clinical suspicion of congenital heart disease (CHD), medical treatment was initiated. Echocardiography showed a left-sided interrupted aortic arch Type B and a large ventricular septal defect (VSD). Magnetic resonance imaging (MRI) was requested for preoperative exact anatomical delineation of the interrupted aortic arch and of its branches. Additionally, MR angiography depicted an isolated right subclavian …

Atrial Function after the Atrial Switch Operation for Transposition of the Great Arteries: Comparison with Arterial Switch and Normals by Cardiovascular Magnetic Resonance

OBJECTIVES The atria serve as reservoir, conduit, and active pump for ventricular filling. The performance of the atrial baffles after atrial switch repair for transposition of the great arteries may be abnormal and impact the function of the systemic right ventricle. We sought to assess atrial function in patients after atrial repair in comparison to patients after arterial switch repair (ASO) and to controls. METHODS Using magnetic resonance imaging, atrial volumes and functional parameters were measured in 17 patients after atrial switch repair, 9 patients after ASO and 10 healthy subjects. RESULTS After the atrial switch operation, the maximum volume of the pulmonary venous atrium was significantly enlarged, but not of the systemic venous atrium. In both patients groups, independently from the surgical technique used, the minimum atrial volumes were elevated, which resulted in a decreased total empting fraction compared with controls (P < .01). The passive empting volume was diminished for right atrium, but elevated for left atrium after atrial switch and normal for left atrium after ASO; however, the passive empting fraction was diminished for both right atrium and left atrium after both operations (P < .01). The active empting volume was the most affected parameter in both atria and both groups and active empting fractions were highly significantly reduced compared with controls. CONCLUSION Atrial function is abnormal in all patients, after atrial switch and ASO repair. The cyclic volume changes, that is, atrial filling and empting, are reduced when compared with normal subjects. Thus, the atria have lost part of their capacity to convert continuous venous flow into a pulsatile ventricular filling. The function of the pulmonary venous atrium, acting as preload for the systemic right ventricle, after atrial switch is altered the most.

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.

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.

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.

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.