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Introduction:Thrombocytopaenia is common in adults with cyanotic heart disease. Our aim was to explore potential mechanisms for thrombocytopaenia in these vulnerable patients.Methods:Adults with cyanotic heart defects were identified from our clinical database. Haemoglobin levels, platelet counts, and resting oxygen saturations were determined at baseline and during follow-up. Associations between patient characteristics and cardiac physiology with these parameters at baseline and during follow-up were analysed using regression models. Survival estimates were determined by the Kaplan–Meier method.Results:We included 79 patients (mean age 32.2 ± 12.4, 48 (61%) Eisenmenger syndrome, 20 (25%) Down syndrome). Mean oxygen saturation was 84.1 ± 5.9%; 38 (48%) had thrombocytopaenia. There was a strong inverse correlation between platelet count and haemoglobin level (R = −0.655, R2 = 0.429, p < 0.0001) and a weaker but significant positive correlation between platelet count and oxygen saturation (R = 0.345, R2 = 0.119, p = 0.002). There was a significant inverse correlation between decrease in platelet count and increase in haemoglobin level during follow-up (R = −0.401, R2 = 0.161, p = 0.001) but not to changes in oxygen saturation (R = 0.043, R2 = 0.002, p = 0.726). Survival estimates were lower for patients with thrombocytopaenia at baseline (log-rank test p < 0.0001).Conclusions:Our findings suggest a direct inverse correlation between platelet counts and haemoglobin levels in adults with cyanotic heart disease. Further studies are required to explore the mechanisms of thrombocytopaenia in cyanotic heart disease and its potential role as an independent marker of risk.

Background The arterial switch operation (ASO) for repair of transposition of the great arteries (TGA) requires transection of the great arterial trunks and re-implantation of the coronary arteries into the neoaortic root resulting in cardiac sympathetic denervation which may affect myocardial blood flow (MBF) regulation. The aims of the present study were to evaluate sympathetic (re-)innervation in young adults after ASO and its impact on MBF. Methods Twelve patients (age 22.5 ± 2.6 years) after ASO for TGA in the neonatal period and ten healthy controls (age 22.0 ± 1.7 years) were included. Positron emission tomography (PET) was used for measuring cardiac sympathetic innervation with [11C]meta-hydroxyephedrine (mHED) and MBF with [15O]H2O PET at rest, during adenosine stimulation, and during sympathetic stimulation with cold pressor test. Cold pressor-induced MBF response capacity was calculated as maximal global MBF over peak rate-pressure product multiplied by 10′000. Results Global [11C]mHED uptake was significantly lower in patients compared to controls (7.0 ± 2.3 versus 11.8 ± 2.1%/min, p Conclusions With only partial sympathetic re-innervation of the coronary arteries, maximal dilator capacity of the coronary microvasculature and cold pressor-induced MBF response capacity remain substantially impaired in young adults after ASO compared to healthy controls.

Background: Left ventricular noncompaction cardiomyopathy (LVNC CMP) is a genetic cardiomyopathy. Genotype-phenotype correlation and clinical outcome of genetic variants in pediatric and adult LVNC CMP patients are still unclear.Methods: The retrospective multicenter study was conducted in unrelated index patients with LVNC CMP, diagnosed between the years 1987 and 2017, and all available family members. All index patients underwent next-generation sequencing for genetic variants in 174 target genes using the Illumina TruSight Cardio Sequencing Panel. Major adverse cardiac events (MACE) included mechanical circulatory support, heart transplantation, survivor of cardiac death, and/or all-cause death as combined endpoint.Results: Study population included 149 LVNC CMP patients with a median age of 27.8 (9.2–44.8) years at diagnosis; 58% of them were symptomatic, 18% suffered from non-sustained and sustained arrhythmias, and 17% had an implantable cardioverter defibrillator (ICD) implanted. 55/137 patients (40%) were ≤ 18 years at diagnosis.A total of 134 variants were identified in 87/113 (77%) index patients. 93 variants were classified as variant of unknown significance (VUS), 24 as likely pathogenic and 15 as pathogenic. The genetic yield of (likely) pathogenic variants was 35/113 (31%) index patients. Variants occurred most frequently in MYH7 (n=19), TTN (n = 10) and MYBPC3 (n = 8). Altogether, sarcomere gene variants constituted 42.5% (n = 57) of all variants. The presence or absence of (likely) pathogenic variants or variants in specific genes did not allow risk stratification for MACE.Reduced left ventricular (LV) systolic function and increased left ventricular end-diastolic diameter (LVEDD) were risk factors for event-free survival in the Kaplan-Meier analysis. Through multivariate analysis we identified reduced LV systolic function as the main risk factor for MACE. Patients with reduced LV systolic function were at a 4.6-fold higher risk for MACE.Conclusions: Genetic variants did not predict the risk of developing a MACE, neither in the pediatric nor in the adult cohort. Multivariate analysis emphasized reduced LV systolic function as the main independent factor that is elevating the risk for MACE. Genetic screening is useful for cascade screening to identify family members at risk for developing LVNC CMP.

Background Patients with unrepaired cyanotic congenital heart disease (CHD) suffer from aggravated hypoxemia during exercise. We tested the hypothesis that supplemental oxygen improves exercise performance in these patients. Methods In this randomized, sham-controlled, single-blind, cross-over trial cyanotic CHD-patients underwent four cycle exercise tests to exhaustion, while breathing either oxygen-enriched (FiO2 0.50, oxygen) or ambient air (FiO2 0.21, air) using incremental (IET) or constant work-rate (CWRET) exercise test protocols (75% of maximal work rate achieved under FiO2 0.21). Pulmonary gas-exchange, electrocardiogram, arterial blood gases, oxygen saturation (SpO2), cerebral and quadriceps muscle tissue oxygenation (CTO and QMTO) by near-infrared spectroscopy were measured. Results We included seven patients with cyanotic CHD (4 Eisenmenger syndrome, 3 unrepaired cyanotic defects, 4 women) median (quartiles) age 36 (32;50) years, BMI 23 (20;26) kg/m2 and SpO2 at rest 87 (83;89) %. When comparing supplemental oxygen with air during exercise, maximal work-rate in IET increased from 76 (58;114) watts to 83 (67;136) watts, median difference 9 (0;22) W (p = 0.046) and CWRET-time increased from 412 s (325;490) to 468 s (415;553), median increase 56 (39;126) s (p = 0.018). In both IET and CWRET SpO2 was significantly higher and ventilatory equivalent for carbon dioxide significantly lower at end-exercise with oxygen compared to air, whereas CTO and QMTO did not significantly differ. Conclusions Patients with cyanotic CHD significantly improved their exercise performance, in terms of maximal work-rate and endurance time along with an improved arterial oxygenation and ventilatory efficiency with supplemental oxygen compared to air.

This study aimed to evaluate age at the first onset of cardiac complications and variation of frequency of complications between different congenital heart defects.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.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 (IR1 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.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.

Adults with congenital heart disease are at risk for persisting executive function deficits, which are known to affect academic achievement and quality of life. Alterations in white -matter microstructure are associated with cognitive impairments in adolescents with congenital heart disease. This study aimed to identify microstructural alterations potentially associated with executive function deficits in adults with congenital heart disease. Diffusion tensor imaging and tract-based spatial statistics were conducted in 45 patients (18 females) and 54 healthy controls (26 females) aged 18–32 years. Fractional anisotropy of white matter diffusion was compared between groups and correlated with an executive function score, derived from an extensive neuropsychological test battery. Patients showed widespread bilateral reduction in fractional anisotropy (P, As more patients with congenital heart disease are surviving into adulthood, interest mounts in the link between congenital heart disease and neurodevelopment across the lifespan. This is the first study in adults with congenital heart disease, demonstrating widespread alterations in white matter microstructure and an association with executive function deficits., Graphical Abstract Graphical Abstract

Background: The purpose of this study was to investigate whether patients with adult congenital heart disease (ACHD) benefit from exercise-based cardiac rehabilitation (CR) short- and long-term with regard to improvement of cardiorespiratory fitness. Methods: Cardiopulmonary exercise tests (CPET) completed by ACHD patients between January 2000 and October 2019 were analysed retrospectively. Linear mixed models were performed for peak oxygen consumption (VO2) with patients as random effect and age, sex, disease classification, preceding surgery (≤3 months) and preceding CR (≤4 weeks for short term and >4 weeks for long term) as fixed effects. Results: 1056 CPETs of 311 ACHD patients with simple (7), moderate (188) or great (116) complexity heart defects were analysed. The 59 patients who completed a CR (median age 27 yrs, 38% females) increased peak VO2 from before to after CR by a median of 2.7 (IQR –0.6 to 5.5) ml/kg/min. However, in the multivariate mixed model, peak VO2 was non-significantly increased short-term after CR (β 0.8, 95%CI –0.7 to 2.4), not maintained long-term after CR (β 0.0, 95%CI –1.7 to 1.6) but significantly reduced after surgery (β –5.1, 95%CI –7.1 to –3.1). The 20 CR patients after surgery increased their peak VO2 by 6.2 (IQR 3.6–9.5) ml/kg/min, while the 39 CR patients without preceding surgery increased it by 0.9 (IQR –1.5 to 3.1) ml/kg/min. Conclusions: The increase in peak VO2 with CR was mainly due to recovery from surgical intervention. The small independent benefit from CR was not maintained long-term, highlighting the potential to improve current CR concepts in ACHD populations.

BACKGROUND Patients with systemic right ventricle (sRV), including transposition of great arteries (TGA) after atrial switch procedure and congenitally corrected transposition of great arteries (ccTGA), may require anticoagulation for thromboembolism (TE) prevention. In the absence of data on non-vitamin K antagonist oral anticoagulants (NOACs), vitamin K antagonists (VKAs) remain the agent of choice. We investigated the safety, efficacy and feasibility of NOACs treatment in adults with sRV in a worldwide study. METHODS This is an international multicentre prospective study, using data from the NOTE registry on adults with sRV taking NOACs between 2014 and 2019. The primary endpoints were TE and major bleeding (MB). The secondary endpoint was minor bleeding. RESULTS A total of 76 patients (42.5��������10.0���years, 76% male) with sRV (74% TGA, 26% ccTGA) on NOACs were included in the study. During a median follow-up of 2.5���years (IQR1.5-3.9), TE events occurred in 3 patients (4%), while no MB episodes were reported. Minor bleeding occurred in 9 patients (12%). NOAC treatment cessation rate was 1.4% (95%CI:0.3-4%) during the first year of follow-up. All the patients with TE events had a CHA2DS2-VASc score���������2 and impaired sRV systolic function at baseline. The total incidence of major events during follow-up was significantly lower compared to historical use of VKAs or aspirin before study inclusion (1.4% (95%CI:0.29-4%) vs 6,9% (95%CI:2.5-15.2%); p���=���.01). CONCLUSIONS In this prospective study, NOACs appear to be well-tolerated, with excellent efficacy and safety at mid-term in patients with sRV.

Congenital heart disease is the most common birth defect, and patients are at risk for neurodevelopmental impairment and brain abnormalities. Yet, little is known about the link between brain volumes and cognitive function in adults with congenital heart disease. Forty-four patients and 53 controls between 18 and 32 years underwent brain magnetic resonance imaging and cognitive testing, assessed with an intelligence quotient and executive function global score. Associations between brain volumes and cognitive function were calculated using linear models. Cognitive function in patients was within the normal range (intelligence quotient: 97.74 (10.76)). Total brain volume was significantly smaller in patients compared to controls (1067.26 (113.53) vs 1113.04 (97.88) cm3, P < 0.01), irrespective of cardiac factors (heart defect complexity, cyanosis, cardiopulmonary bypass: all P > 0.4). After adjusting for total brain volume, only corpus callosum volume remained significantly smaller (P = 0.03). Smaller total brain volume was associated with poorer overall executive functioning (P = 0.02) and inhibition (P P = 0.03). In adults with congenital heart disease, despite normal intelligence quotient, brain volume alterations persist into adulthood and are related to executive functioning, in particular inhibitory control. Adults coming from low socioeconomic background and with altered brain volumes are especially vulnerable and should thus be followed-up during adulthood to ensure optimal social and educational support.

Learning objectives Simple shunt lesions are among the most common forms of congenital heart disease.1 Depending on location and size of the shunts, haemodynamic effects and presentation vary considerably. For example, while haemodynamically relevant ventricular septal defects (VSDs) nowadays typically are managed during childhood, atrial septal defects (ASDs) often escape diagnosis in childhood and many patients are diagnosed in adult life.2 Therefore, general cardiologists are frequently confronted with diagnosis and management of interatrial communications. This article focuses on anatomy, pathophysiology, natural history and common complications of simple shunt lesions; discusses imaging techniques and invasive procedures to diagnose and manage ASDs and VSDs and provides a practical algorithm on how to manage patients with ASDs with and without pulmonary hypertension. ### Atrial septal defects #### ​Anatomy of ASDs ASD are defined as direct communications on the atrial level. The ostium secundum ASD (figure 1A1) is located within the fossa ovalis but may extend in any direction. In contrast to a patent foramen ovale (PFO), which is a flap-valve of tissue formed by the septum primum and septum secundum, an ostium secundum ASD is characterised by a true tissue defect of variable size. Occasionally, there may be multiple defects or a combination of an ostium secundum ASD in addition to a PFO with or without an associated atrial septal aneurysm. Figure 1 Anatomy and haemodynamic consequences of simple shunt lesions. Panels (1A and 1B) anatomy of secundum atrial septal defects and haemodynamic consequences of relevant left-to-right shunting in interatrial communications. Panels (2A and 2B) anatomy of muscular ventricular septal defects and haemodynamic consequences of relevant left-to-right shunting. Panels (3A and 3B) anatomy of patent ductus arteriosus and the …

OBJECTIVES: The aim of the study was to assess indications, procedural success, complications, echocardiographic, and clinical outcomes of percutaneous pulmonary valve implantation (PPVI) in adult patients with congenital heart disease (CHD). BACKGROUND: PPVI offers a non-surgical treatment option for failing prosthetic conduits in pulmonary position. However, efficacy and clinical outcomes after PPVI are still underreported. METHODS: From January 2008 to March 2016, 25 adult CHD patients with right ventricular outflow tract (RVOT) stenosis and/or pulmonary regurgitation underwent PPVI in our institution. Clinical and echocardiographic data was collected at baseline, at 12 months of follow-up and yearly afterwards. RESULTS: Tetralogy of Fallot and repaired pulmonary atresia were among the most prevalent underlying congenital defects. Twenty-one (84%) received a Medtronic Melody® and four (16%) patients an Edwards Sapien valve prosthesis. The PPVI procedure was successful in all 25 patients. Pre-stenting was performed in all but two (8%) patients. PPVI reduced peak-to-peak pulmonary valve gradient from 43 (IQR 28-60) mmHg to 16 (IQR 14-22) mmHg (P

Highlights • Congenital heart disease (CHD) patients are at risk for developmental impairments. • CHD patients have a higher rate of motor impairments compared to controls. • Fractional anisotropy of the corticospinal tract (FA CST) is lower in CHD patients. • Lower FA CST is associated with poorer motor function in patients with complex CHD. • Altered primary motor pathway development may lead to motor impairments in CHD., Congenital heart disease (CHD) patients are at risk for neurodevelopmental impairments, including altered motor function. However, little is known about the neuroanatomical correlates of persistent motor deficits in CHD. Thus, we examined the link between corticospinal tract (CST) microstructure and motor function in adolescent and adult CHD patients compared to healthy controls. This study investigated 89 CHD patients (N(adolescents) = 47, N(adults) = 42, mean age = 19.9 years) and 97 age-matched healthy controls (N(adolescents) = 44, N(adults) = 53, mean age = 20.6 years). Diffusion tensor imaging was conducted and fractional anisotropy (FA) of the left and right CST was extracted for each participant. Fine (pegboard) and pure motor (repeated finger, hand and foot movements) performance was evaluated with a standardized test battery. FA and motor performance were correlated and the effect of CHD complexity was tested using multivariate linear regression. Clinically relevant motor impairments (>2SD below normative mean) were evident in 24% of patients and 9% of controls. On average, motor performance was lower in CHD patients compared to controls, particularly in those with more complex CHD (fine motor: p = 0.023; pure motor: p

Pulmonary autograft replacement (Ross procedure) is used as an alternative to prosthetic aortic valve replacement patients with aortic valve disease. There are limited data on incidence and risk factors for dilatation and dysfunction of the neo-aortic after the Ross procedure. Ross procedure was performed in 100 patients at our institution between 1993 and 2011. In 76 patients, complete follow-up data were available. Their median age at surgery was 16 (0.4-58) years (76 % males; 95 % with congenital aortic valve disease). Median follow-up duration was 5.2 years (0.3-16.0 years). We analyzed their clinical and echocardiographic follow-up to identify possible risk factors for neo-aortic root dilatation and dysfunction. Ross procedure included reduction plasty of the native ascending aorta in 25 % of patients. During follow-up, 21 patients (28 %) developed neo-aortic root dilatation, 38 patients (50 %) dilatation oft the native ascending aorta and 7 patients (9 %) at least moderate neo-aortic regurgitation. Univariate risk factors for neo-aortic root dilatation were preoperative aortic regurgitation (p = 0.04), concomitant reduction plasty of the ascending aorta (p = 0.009) and a longer duration of follow-up (p = 0.005). Younger age at surgery was associated with dilatation of the ascending aorta (p = 0.03). Reoperation on the neo-aortic root because of severe dilatation was necessary in 6 patients (8 %), where 2 patients had at least moderate neo-aortic root regurgitation. Neo-aortic root and aortic dilatation are common after the Ross procedure. This is often combined with neo-aortic valve dysfunction. Close follow-up of these patients is mandatory.

OBJECTIVE High altitude-related hypoxia induces pulmonary vasoconstriction. In Fontan patients without a contractile subpulmonary ventricle, an increase in pulmonary artery pressure is expected to decrease circulatory output and reduce exercise capacity. This study investigates the direct effects of short-term high altitude exposure on pulmonary blood flow (PBF) and exercise capacity in Fontan patients. METHODS 16 adult Fontan patients (mean age 28±7 years, 56% female) and 14 matched controls underwent cardiopulmonary exercise testing with measurement of PBF with a gas rebreathing system at 540 m (low altitude) and at 3454 m (high altitude) within 12 weeks. RESULTS PBF at rest and at exercise was higher in controls than in Fontan patients, both at low and high altitude. PBF increased twofold in Fontan patients and 2.8-fold in the control group during submaximal exercise, with no significant difference between low and high altitude (p=0.290). A reduction in peak oxygen uptake at high compared with low altitude was observed in Fontan patients (22.8±5.1 and 20.5±3.8 mL/min/kg, p

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

Hypoplastic left heart syndrome (HLHS) is a high-risk condition among the wider spectrum of single-ventricle physiology lesions, and few survivors have reached adulthood.1 As HLHS is one of the most common diagnoses for children undergoing Fontan palliation,2 identification of risk factors for adverse outcomes in this emerging population is of importance. We report results from a multicenter observational study that characterizes adults with Fontan palliation for underlying HLHS at entry into adulthood and defines factors associated with adverse outcomes. Adults (≥18 years by July 2014) with HLHS were studied. The diagnosis of HLHS was restricted to patients with mitral stenosis or atresia, aortic stenosis or atresia, and a diminutive left ventricle. Excluded were patients with other forms of dominant right ventricular lesions with univentricular physiology managed with a Norwood procedure (ie, unbalanced atrioventricular septal defect or double-outlet right ventricle) or those with heart transplantation. Available pediatric and adult cardiovascular data were reviewed. The primary end point (Fontan-specific major adverse cardiovascular event) was defined as death, transplantation listing, hospitalization (>24 hours) for heart failure requiring intravenous diuretics, sustained ventricular …

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 CHA DS -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)], CHA DS -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, CHA DS -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.

BACKGROUND In biventricular hearts the filling and contractility of one ventricle affects the performance of the other. In this study, we compared right ventricular systolic function and exercise capacity in patients with a subaortic right ventricle (RV) in relation to the presence of a left ventricular outflow tract obstruction (LVOTO). METHODS Retrospective chart review of adults with congenitally corrected transposition of the great arteries (ccTGA) or with a previous atrial switch procedure for complete TGA (D-TGA). A LVOTO was defined by a peak instantaneous systolic gradient>20mmHg. Right and left ventricular ejection fraction (EF) were measured by cardiac magnetic resonance imaging (CMR), and exercise capacity as the predicted peak oxygen consumption (peak VO2) on a cycle ergometer. RESULTS We identified 79 clinically stable adults (age 33±10years, 70% male). Nine patients (11%) had cc-TGA and 70 patients had (89%) D-TGA. Thirteen patients (16%) had a LVOTO with a mean peak instantaneous systolic gradient of 43±22mmHg. Patients with a LVOTO had higher left (68±7% vs. 60±9%, p=0.01) and right ventricular EF (52±8 vs. 46±9%, p=0.05) by CMR compared to patients without LVOTO. In a multivariate regression analysis with left ventricular EF and LVOTO as predictors, only left ventricular EF was independently associated with right ventricular EF (correlation coefficient 0.41, p

Background Progress in management of congenital heart disease has shifted mortality largely to adulthood. However, adult survivors with complex congenital heart disease are not cured and remain at risk of premature death as young adults. Thus, our aim was to describe the evolution and mortality risk of adult patient cohorts with complex congenital heart disease. Methods Among 12 644 adults with congenital heart disease followed at a single center from 1980 to 2009, 176 had Eisenmenger syndrome, 76 had unrepaired cyanotic defects, 221 had atrial switch operations for transposition of the great arteries, 158 had congenitally corrected transposition of the great arteries, 227 had Fontan palliation, and 789 had repaired tetralogy of Fallot. We depict the 30-year evolution of these 6 patient cohorts, analyze survival probabilities in adulthood, and predict future number of deaths through 2029. Results Since 1980, there has been a steady increase in numbers of patients followed, except in cohorts with Eisenmenger syndrome and unrepaired cyanotic defects. Between 1980 and 2009, 308 patients in the study cohorts (19%) died. At the end of 2009, 85% of survivors were younger than 50 years. Survival estimates for all cohorts were markedly lower than for the general population, with important differences between cohorts. Over the upcoming two decades, we predict a substantial increase in numbers of deaths among young adults with subaortic right ventricles, Fontan palliation, and repaired tetralogy of Fallot. Conclusions Anticipatory action is needed to prepare clinical services for increasing numbers of young adults at risk of dying from complex congenital heart disease.

INTRODUCTION: Left ventricular non-compaction cardiomyopathy (LVNC) is a rare cardiomyopathy, originally described as an isolated disease without other structural cardiac abnormalities. The aim of this study was to explore the prevalence of LVNC among adults with different types of congenital heart disease. METHODS: From our databases we identified adults with congenital heart disease who fulfilled diagnostic criteria for LVNC. We report frequencies of associated congenital cardiac defects and the prevalence of LVNC among patients with different congenital heart defects. RESULTS: From a total of 202 patients with LVNC, 24 patients (12%; mean age 32±11years, 19 males) had additional congenital cardiac defects. Associated defects were left ventricular outflow tract abnormalities in 11 patients (46%), including 7 uni- or bicuspid aortic valves; two aortic coarctations; one diffuse aortic hypoplasia and one subaortic stenosis, Ebstein anomaly in 6 patients (25%), tetralogy of Fallot in two (8%), and double outlet right ventricle in one patient (4%). In our cohort, the prevalence of LVNC was highest among patients with Ebstein anomaly (6/40, 15%), followed by aortic coarctation (2/60, 3%), tetralogy of Fallot (3/129, 2%) and uni- or bicuspid aortic valves (7/963, 1%). CONCLUSION: In adults, various forms of congenital heart disease are associated with LVNC, particularly stenotic lesions of the left ventricular outflow tract, Ebstein anomaly, and tetralogy of Fallot. In the future, studying these patients in more depth may provide a better understanding of the interplay between genetic and hemodynamic factors that lead to the phenotype of LVNC.

Published reference values for echocardiographic measurements of right-heart dimensions and function do not stratify for gender and body size. The aim of this study was therefore to assess the impact of gender and biometric characteristics on right-heart dimensions and function.From the echocardiography database at a tertiary care center, 1,625 subjects (mean age, 44 ± 14 years; 47% men) with normal echocardiographic findings between 2000 and 2009 were identified. Gender differences and association with body surface area were assessed retrospectively for right atrial long-axis and short-axis dimensions, right ventricular short-axis dimension, end-diastolic and end-systolic right ventricular area, right ventricular fractional area change, and tricuspid annular plane systolic excursion. The impact of normal values stratified for gender and body surface area was tested in 24 patients with moderate-sized to large atrial septal defects.All dimensional right-heart measurements were significantly lower in women. Differences became smaller when measurements were indexed for body surface area, but significant differences persisted, particularly for right ventricular end-diastolic area (7.9 ± 1.6 vs 8.7 ± 1.8 cm(2)/m(2), P.001) and right ventricular end-systolic area (4.0 ± 1.2 vs 4.7 ± 1.4 cm(2)/m(2), P.001). Fractional area change and tricuspid annular plane systolic excursion indexed to body surface area were significantly higher in women (50 ± 7% vs 46 ± 9% and 14 ± 3 vs 12 ± 2 mm/m(2), respectively, P.001 for both comparisons). The use of upper reference ranges for end-diastolic right ventricular area stratified for gender and body surface area improved the detection of enlarged right ventricles in patients with moderate-sized to large atrial septal defects (92% vs 54%, P.007).Gender and body surface area are important determinants of right ventricular dimensions and systolic function as measured on two-dimensional echocardiography. The investigators thus propose the use of measurements indexed to body surface area, with upper and lower reference ranges stratified for gender.

Background The risk of adverse events in patients with left ventricular non-compaction cardiomyopathy (LVNC) is substantial. This study was designed to determine the prognostic value of NT-proBNP, left ventricular ejection fraction (LVEF), NYHA class, and exercise capacity in LVNC patients. Methods Cox regression analyses were performed for evaluating the prognostic value of NT-proBNP, LVEF, NYHA class, and exercise capacity on the occurrence of death or heart transplantation. 153 patients were included. Results During 1013 person-years (longest follow-up 18.5years) 23 patients (15%) died or underwent heart transplantation. We observed a significant relationship of NT-proBNP (adjusted HR 2.44, 95% CI 1.45–4.09, for every NT-proBNP doubling, p =0.0007) and LVEF (adjusted HR for age 60years: 2.68, 95% CI 1.62–4.41, p =0.0001) with the risk of death or heart transplantation. Combined covariate analysis indicated a strong influence of NT-proBNP (adjusted 2.89, 95% CI 1.33–6.26, p =0.007), whereas LVEF was no longer significant (adjusted HR 0.82, 95% CI 0.42–1.67, p =0.66) demonstrating a favorable prognostic power of NT-proBNP over LVEF. An increase in NYHA class was associated with a worse outcome, and exercise capacity revealed a trend in the same direction. For all the abovementioned analyses, similar results were obtained when assessing the values at first presentation. Conclusion This study provides evidence that an increase in NT-proBNP is a strong predictor of outcome in patients with LVNC. The prognostic power of NT-proBNP is at least as good as that of LVEF, indicating that routine NT-proBNP measurement may improve risk assessment in LVNC.

We report a rare case of Takayasu's arteritis with isolated pulmonary artery stenosis in the presence of active hepatitis B and latent Mycobacterium tuberculosis infection in a middle-aged Asian woman who initially presented with severe dyspnea on exertion and recurrent syncope, occasional burning chest pains, and fatigue. Therapy of the active hepatitis B and latent M. tuberculosis infection together with a course of methotrexate led to a slight reversal of the symptoms, as angioplasty with or without stenting was not an option. The constellation described here hints at the possible link between hepatitis B and M. tuberculosis infection and the development of Takayasu's arteritis. The case also supports the little evidence available indicating that treatment of active hepatitis B infection could positively influence the course of Takayasu's arteritis.

INTRODUCTION: Clinical manifestations of hypertrophic cardiomyopathy (HCM) range from asymptomatic disease to early-onset heart failure and sudden cardiac death (SCD). Risk stratification for SCD remains imperfect and novel risk markers are needed. The aim of our study was to evaluate the association of elevated high-sensitivity cardiac troponin T levels (hs-cTnT) with the severity of disease expression and adverse events in patients with HCM. METHODS: All patients followed-up at a dedicated HCM clinic at a tertiary care centre between April 2012 and March 2014 were analysed. The clinical care track for these patients includes 12-lead ECG, blood work-up, echocardiography, Holter ECG, exercise stress testing and cardiovascular magnetic resonance imaging (CMR). Clinical data were obtained from medical records. RESULTS: Of 91 HCM patients (77% males, mean age at follow up 51 ± 16 years), 46 (51%) had elevated hs-cTnT levels (>0.014 ng/ml). Patients with elevated hs-cTnT levels had greater maximum wall thickness (23 ± 7 mm vs 19 ± 3 mm, p = 0.001), more often had myocardial fibrosis (96% vs 54%, p

Incomplete information on characteristics of prosthetic heart valves (PHV) may lead to inappropriate choices for PHV implantation (patient-prosthesis-mismatch) or erroneous interpretation of PHV function after implantation. No single and easy accessible source provides all relevant information on PHV. The aim of this study was to provide a comprehensive overview of available data for the majority of PHVs and annuloplasty rings. Information was collected by reviewing articles published on www.pubmed.org up to December 2014 and by written contact to all PHV manufacturers. Four areas of interest were defined: (1) PHV image, (2) in vivo transvalvular gradients, (3) effective orifice area (EOA) calculators and (4) PHV dimensions. Available information was classified as complete (all categories), partial (two or three categories) or minimal (one category). 108 PHV (including homografts) and 34 annuloplasty rings systems were identified. The information on PHV was complete, partial or minimal in 19.5, 61.0 and 19.5% of PHV, respectively. In 91.6% a picture of the valve could be obtained, whereas normative data for transvalvular gradients and EOA calculators were available in 63.0 and 25.0% of all PHV, respectively. The available data was summarized on a new open access webpage ( www.valveguide.ch ). There is a lack of accessible data on PHV dimensions, normal transvalvular gradients and effective orifice area calculators, although such information is of crucial importance for proper PHV assessment.

Left ventricular noncompaction (LVNC) is characterized by a two-layered myocardium consisting of a noncompacted inner and a compacted outer layer. The ratio of the thicknesses of these two layers is a major diagnostic criterion, which is, however, often difficult to apply in clinical practice.Transthoracic echocardiography was performed in 41 patients with LVNC, 41 patients with moderate or severe aortic valve stenosis (AVS), and 41 age-matched normal controls. The maximal systolic thicknesses of "noncompacta" and "compacta" were measured in standard short-axis views at the apical or midventricular level, in the segment with most prominent recesses (in patients with LVNC) or trabeculation (in patients with AVS and controls).The mean maximal systolic thickness of noncompacta was 1.8 ± 0.4 cm in patients with LVNC compared with 0.2 ± 0.1 cm in controls and 0.6 ± 0.02 cm in patients with AVS (P.0001). The mean maximal systolic thickness of compacta was lower in patients with LVNC (0.5 ± 0.1 cm) compared to controls (1.2 ± 0.2 cm; P.0001) and patients with AVS (1.6 ± 0.06 cm; P.0001). The maximal systolic thickness of compacta was ≤8.1 mm in patients with LVNC compared with8.1 mm (P.0001) in controls and8.1 mm in patients with AVS (P.0001). The ratio of the maximal systolic thickness of the indexed basal septum to that of the compacta was ≥0.64/m(2) in patients with LVNC compared to ≤0.62/m(2) in controls and ≤0.96/m(2) in patients with AVS.Maximal systolic compacta thickness8 mm is specific for LVNC and allows the differentiation of LVNC from normal hearts as well as those with myocardial thickening due to AVS. This observation may be particularly useful as an additional diagnostic criterion for preventing the overdiagnosis of LVNC.

Aims Supravalvar aortic stenosis is a rare form of left ventricular outflow tract obstruction that is often progressive in childhood. Little data are available on outcomes in the adult population. Our aim was to define cardiac outcomes in adults with supravalvar aortic stenosis. Methods and results This is a multicentre retrospective study of cardiac outcomes in adults (≥18 years) with supravalvar aortic stenosis. We examined: (i) adverse cardiac events (cardiovascular death, myocardial infarction, stroke, heart failure, sustained arrhythmias, and infective endocarditis) and (ii) the need for cardiac surgery in adulthood. One hundred and thirteen adults (median age at first visit 19 years; 55% with Williams–Beuren syndrome; 67% with surgical repair in childhood) were identified. Adults without Williams–Beuren syndrome had more severe supravalvar aortic stenosis and more often associated left ventricular outflow tract obstructions ( P < 0.001). In contrast, mitral valve regurgitation was more common in patients with Williams–Beuren syndrome. Eighty-five per cent of adults (96/113) had serial follow-up information (median follow-up 6.0 years). Of these patients, 13% (12/96) had an adverse cardiac event and 13% (12/96) had cardiac operations (7 valve repair or replacements, 4 supravalvar aortic stenosis repairs, 1 other). Cardiac surgery was more common in adults without Williams–Beuren syndrome ( P = 0.007). Progression of supravalvar aortic stenosis during adulthood was rare. Conclusion Adults with supravalvar aortic stenosis remain at risk for cardiac complications and reoperations, while progression of supravalvar aortic stenosis in adulthood is rare. Valve surgery is the most common indication for cardiac surgery in adulthood.

This editorial refers to ‘Preoperative thresholds for mid-to-late haemodynamic and clinical outcomes after pulmonary valve replacement in tetralogy of Fallot’[†][1], by J.P. Bokma et al ., on page 829. Tetralogy of Fallot (TOF) is the most common cyanotic heart defect (CHD), accounting for 3–5% of all infants born with a CHD.1 Survival prospects without intervention are bleak, and

Purpose of review Adult survivors with congenital heart disease (CHD) are a novel group of adults with chronic disease. Due to the nature of their surgical repair, the majority is not cured. This review focuses on changing demographics and mortality of adults with CHD, available knowledge and data on end-of-life (EOL) and palliative care in this patient group and outlines needs for future clinical practice and research. Recent findings Recent findings underscore that survival to adulthood has become the rule for the majority of patients born with CHD. Many remain at increased risk of premature death from their disease. Chronic circulatory failure has been identified as one of the leading causes of death and, thus, patients may benefit from incorporation of palliative care principles in their management. Recent studies show that this practice has not yet been widely adopted. Nonetheless a survey of adult outpatients has shown that many patients prefer to be involved in EOL decisions early in the course of their disease. Summary More research is needed to learn how we can best implement principles of palliative care in the growing population of adult survivors with CHD. This includes improved communication about EOL issues and a more comprehensive approach for symptom control.

No published studies have evaluated the role of cardiac magnetic resonance (CMR) imaging for the assessment of Ebstein anomaly. Our objective was to evaluate the right heart characteristics in adults with unrepaired Ebstein anomaly using contemporary CMR imaging techniques. Consecutive patients with unrepaired Ebstein anomaly and complete CMR studies from 2004 to 2009 were identified (n = 32). Volumetric measurements were obtained from the short-axis and axial views, including assessment of the functional right ventricular (RV) end-diastolic volume (EDV) and end-systolic volume. The volume of the atrialized portion of the right ventricle in end-diastole was calculated as the difference between the total RVEDV and the functional RVEDV. The reproducibility of the measurements in the axial and short-axis views was determined within and between observers. The median value derived from the short-axis and axial views was 136 ml/m(2) (range 59 to 347) and 136 ml/m(2) (range 63 to 342) for the functional RVEDV, 153 ml/m(2) (range 64 to 441) and 154 ml/m(2) (range 67 to 436) for the total RVEDV, 49% (range 32% to 46%) and 50% (range 40% to 64%) for the functional RV ejection fraction, respectively. The axial measurements demonstrated lower intraobserver and interobserver variability than the short-axis approach for all values, with the exception of the intraobserver functional RVEDV and interobserver total RVEDV for which the limits of agreement and variance were not significantly different between the 2 views. In conclusion, measurements of right heart size and systolic function in patients with Ebstein anomaly can be reliably achieved using CMR imaging. Axial imaging appeared to provide more reproducible data than that obtained from the short-axis views.

In patients with heart failure from acquired cardiomyopathy, respiratory and skeletal muscle weakness is common and is an independent predictor for adverse events. Despite a different underlying pathology, many young adults with congenital heart disease (CHD) develop a syndrome comparable to heart failure from acquired cardiomyopathy and may be at risk for a similar skeletal muscle weakness.To assess respiratory and skeletal muscle strength in adults with complex CHD.Respiratory and skeletal muscle function was assessed in 51 adults; 41 with complex CHD (16 tetralogy of Fallot, 11 univentricular anatomy with Fontan operation and 14 with subaortic right ventricles) and 10 controls. Maximal inspiratory (MIPs) and expiratory (MEPs) pressures, handgrip strength, lung volumes and aerobic capacity (peak VO₂) were measured. Results In patients with CHD (age 34 ± 13 years), average% predicted MIPs, MEPs and handgrip strength were lower than in controls (77 ± 27% vs 106 ± 28%, 85 ± 32% vs 116 ± 41% and 72 ± 15% vs 93 ± 14%, respectively, p ≤ 0.01). There was no significant difference in muscle weakness between CHD subgroups. In 39% of patients with CHD, the handgrip strength, and in 22%, respiratory muscle strength was70% predicted. These patients had a significantly lower peak VO₂ (50 ± 12% vs 64 ± 14% predicted, p=0.008).Respiratory and skeletal muscle weakness is common in young adults with complex CHD and similar to that found in older adults with advanced heart failure from acquired heart disease.

Background: Surgical palliation of hypoplastic left heart syndrome (HLHS) has only been possible for the past few decades. Prior to this, without heart transplantation, HLHS was universally fatal in infancy. The oldest survivors of palliated HLHS are only now entering adulthood and limited data are available regarding their welfare. Methods: For this multi-center, cross-sectional, observational study, 6 adult congenital heart disease (ACHD) centers contributed data regarding all HLHS patients aged >18 years followed at their institution. HLHS was defined as a dominant right ventricle (RV) and diminutive left ventricle with a combination of mitral valve disease (stenosis [MS] or atresia [MA]) and aortic valve disease (stenosis [AS] or atresia [AA]). Patients with single RV physiology without hypoplasia of left heart inlet and outlet structures were excluded. All available clinical data, including cardiac imaging, cardiac catheterization results and exercise tests were reviewed. Results: The study included 53 HLHS adults (65% male) with mean age 21.8±3.6 years. Underlying cardiac anatomy was AA&MA (n=21, 41%), AS&MS (n=19, 37%), AS&MA (n=10, 20%), and AA&MS (n=1, 2%). Stage 1 Norwood was completed at age 6.0±4.4 days, Glenn shunt at age 10.8±8.7 months and Fontan at age 3.3±2 years. Stage 1 cardiopulmonary bypass and circulatory arrest times were 94±46 and 59±2 minutes respectively. The mean duration of follow-up in an ACHD center was 3.4±2.5 years. After age 18 years, major adverse events had occurred in 15/53 patients (28%). These mutually exclusive events were: death (n=3, 6%), transplant (n=1, 2%), protein losing enteropathy (n=2, 4%), stroke (n=2, 4%), symptomatic ventricular tachycardia (n=1, 2%), heart failure requiring admission for intravenous therapy (n=3, 6%) and major cardiac surgery (n=3, 6% [aortic valve replacement n=1, tricuspid valve replacement n=2]). Conclusions: Young adults with a Fontan palliation for HLHS are at high risk of major adverse cardiac events. It is essential that close attention is paid to successful transition of this vulnerable population into adult care and that these patients remain under vigilant specialist follow-up through adult life.

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.

Marked advances in the diagnosis and treatment of congenital heart disease (CHD) and other pediatric-onset cardiac conditions have significantly increased survival, such that the majority of patients are now expected to reach adulthood. However, childhood mortality will not completely disappear and there continues to be a subgroup of patients with complex heart disease who will die in childhood. In addition, CHD, particularly of moderate to great complexity, remains a chronic medical condition associated with premature mortality in adulthood. Patients with congenital and pediatric heart disease have end-of-life (EOL) care considerations unique from those of adult patients dying of acquired heart disease. Though EOL considerations certainly vary between neonates, children and adolescents, and adults, an emphasis on communication and interdisciplinary care is recommended in order to improve advance care planning and EOL care for this deserving group of patients.

Impaired left ventricular (LV) myocardial deformation is associated with adverse outcome in patients with severe aortic stenosis (AS). The aim of this retrospective study was to assess the impact of transcatheter aortic valve implantation (TAVI) on the recovery of myocardial mechanics and the influence of postprocedural aortic regurgitation (AR).Speckle-tracking echocardiography was used to assess multidirectional myocardial deformation (longitudinal and circumferential strain) and rotational mechanics (apical rotation and twist) before and at midterm follow-up after TAVI. Predictors of myocardial recovery, defined as a ≥20% relative increase in the magnitude of global longitudinal strain compared with baseline, were examined.Sixty-four patients (median age, 83 years; interquartile range, 77-86 years) with severe AS and high surgical risk (mean European System for Cardiac Operative Risk Evaluation score, 20 ± 13%) were evaluated. Overall, LV longitudinal deformation was impaired at baseline compared with controls. At 5 ± 3 months after TAVI, LV longitudinal deformation had significantly improved only in the group of patients with baseline LV ejection fractions (LVEF) ≤ 55%: global longitudinal strain from -9.7 ± 3.7% to -11.8 ± 3.2% (P = .05), longitudinal strain rate from -0.44 ± 0.14 sec(-1) to -0.57 ± 0.16 sec(-1) (P = .001), and early diastolic strain rate from 0.38 ± 0.17 sec(-1) to 0.49 ± 0.18 sec(-1) (P = .01). In patients with normal LVEFs, LV twist was supraphysiologic at baseline and normalized after TAVI (from 16.1 ± 6.9° to 11.9 ± 6.2°, P = .004). In patients with baseline LVEFs ≤ 55%, circumferential deformation was impaired before TAVI and improved after TAVI. Baseline LVEF (odds ratio, 0.56 per 10% increment; P = .02) and global longitudinal strain (odds ratio, 0.65 per absolute 1% increment; P.001) were significant predictors of myocardial recovery. LV mass, volumes, and longitudinal strain failed to favorably remodel in patients with post-TAVI important AR (defined as new mild post-TAVI AR or moderate or severe post-TAVI AR [either preexisting or new AR]).TAVI restores LV function toward more physiologic myocardial mechanics in both normal- and depressed-LVEF groups. Patients with lower systolic function derive the most benefit in terms of longitudinal reverse remodeling. Postprocedural AR adversely affects LV structural and functional remodeling.

We report the case of a young patient with repaired Ebstein’s anomaly who developed severe tachycardia-induced cardiomyopathy and a large apical thrombus as a consequence of sustained atrial flutter with a 2:1 conduction. In spite of a dramatic course in hospital with prolonged mechanical resuscitation and extracorporeal membrane oxygenation, she survived and made a rapid and full recovery. This remarkable case underlines that atrial arrhythmias, the most common complication in adults with congenital heart disease, may have devastating outcomes when timely recognition is missed and treatment delayed—thus, emphasizing the importance of good patient education.

A 47-year-old man with a history of systemic hypertension and type 2 diabetes mellitus was admitted to our centre in cardiogenic shock. He experienced rapidly progressive shortness of breath for the past 3 weeks. The ECG on admission showed atrial flutter with 2:1 conduction and a ventricular rate of 142 b.p.m. ( Panel A ). Transoesophageal echocardiography prior to cardioversion ( Panels B and C , …

Due to impressive improvements in surgical repair options, even patients with complex congenital heart disease (CHD) may survive into adulthood and have a high risk of end-stage heart failure. Thus, the number of patients with CHD needing heart transplantation (HTx) has been increasing in the last decades. This paper summarizes the changing etiology of causes of death in heart failure in CHD. The main reasons, contraindications, and risks of heart transplantation in CHD are discussed and underlined with three case vignettes. Compared to HTx in acquired heart disease, HTx in CHD has an increased risk of perioperative death and rejection. However, outcome of HTx for complex CHD has improved over the past 20 years. Additionally, mechanical support options might decrease the waiting list mortality in the future. The number of patients needing heart-lung transplantation (especially for Eisenmenger’s syndrome) has decreased in the last years. Lung transplantation with intracardiac repair of a cardiac defect is another possibility especially for patients with interatrial shunts. Overall, HTx will remain an important treatment option for CHD in the near future.

Isolated left ventricular noncompaction is a rare form of primary cardiomyopathy. Although increasingly diagnosed, data on the outcomes are limited. To define the predictors of adverse outcomes, we performed a retrospective analysis of a prospectively defined cohort of consecutive patients (age >14 years) diagnosed with left ventricular noncompaction at a single center. The baseline characteristics included presentation with a cardiovascular complication (i.e., decompensated heart failure, systemic embolic event, or sustained ventricular arrhythmia). The primary end point was survival free from cardiovascular death or transplantation. The predictors of survival were evaluated using the Kaplan-Meier method and Cox proportional hazards analysis. A total of 115 patients were included, 77% of whom were symptomatic at diagnosis. Compared to the asymptomatic patients, the symptomatic patients were significantly older and had larger left ventricular cavities and worse left ventricular ejection fraction. Of the 115 patients, 49 (43%) presented with a cardiovascular complication. During a median follow-up of 2.7 years (range 0.1 to 19.4), none of the asymptomatic patients died or underwent transplantation compared to 31% (27 of 88) of the symptomatic patients (p = 0.001). The major determinants of cardiovascular death or transplantation were presentation with a cardiovascular complication (hazard ratio 20.6, 95% confidence interval 4.9 to 87.5, p

A 66-year-old man with Kartagener's syndrome, situs inversus totalis, and recurrent supraventricular tachycardia and a 49-year-old man with atrial fibrillation and drug-refractory rapid ventricular rate response were referred for catheter ablation. In the first case, the mirrored anatomy of the right atrium was reconstructed using three-dimensional electroanatomical mapping, which guided successful ablation of a typical atrioventricular nodal reentrant tachycardia. In the second case, computerized tomography showed the presence of left atrial isomerism with interruption of the inferior vena cava and azygous continuation into the superior vena cava, guiding advancement of the ablation catheter for access into the positionally right atrial ablation site. These cases illustrate the role of imaging in patients with unusual anatomy of the cardiac chambers and major blood vessels guiding optimal catheter access for catheter ablation.

Objectives The objectives of this study were to examine: 1) B-type natriuretic peptide (BNP) response to pregnancy in women with heart disease; and 2) the relationship between BNP levels and adverse maternal cardiac events during pregnancy. Background Pregnancy imposes a hemodynamic stress on the heart. BNP might be a useful biomarker to assess the ability of the heart to adapt to the hemodynamic load of pregnancy. Methods This was a prospective study of women with structural heart disease seen at our center. Serial clinical data and plasma BNP measurements were obtained during the first trimester, third trimester, and after delivery (>6 weeks). Results Seventy-eight pregnant women were studied; 66 women with heart disease (age 31 ± 5 years), and 12 healthy women (age 33 ± 5 years). During pregnancy, the median peak BNP level was higher in women with heart disease compared with control subjects (median 79, interquartile range 51 to 152 pg/ml vs. median 35, interquartile range 21 to 43 pg/ml, p < 0.001). In women with heart disease, those with subaortic ventricular dysfunction had higher BNP levels (p = 0.03). A BNP >100 pg/ml was measured in all women with events during pregnancy (n = 8). Sixteen women had increased BNP levels during pregnancy but did not have clinical events. None of the women with BNP ≤100 pg/ml had events. BNP ≤100 pg/ml had a negative predictive value of 100% for identifying events during pregnancy. Conclusions Many pregnant women with heart disease have increased BNP levels during pregnancy. Incorporating serial BNP levels in into clinical practice can be helpful, specifically in adjudicating suspected adverse cardiac events during pregnancy. © 2010 American College of Cardiology Foundation.

The right ventricular (RV) systolic function is important for decision making in adults with repaired tetralogy of Fallot (rTOF). Our aim was to assess regional RV systolic function and its impact on global RV systolic function by echocardiography.In 101 adults with rTOF, regional RV systolic function on echocardiography was compared to 50 individuals with structurally normal hearts. In patients with rTOF, the impact of echocardiographic measures of regional RV systolic function on global RV-ejection fraction as measured by cardiac magnetic resonance imaging (CMR-RVEF) was determined.Compared to normals, patients with rTOF had impaired systolic function of the RV outflow tract. Patients with rTOF and normal CMR-RVEF compensate this loss of RV outflow tract function with increased contractions of the RV-body, measured as fractional area change on short axis (30±12% versus 19±7%, p0.0001) and on 4-chamber views (42±7% versus 38±8%, p=0.06). In contrast, patients with rTOF and abnormal global CMR-RVEF showed significantly lower systolic function of the RV-body compared to normal controls (fractional area change on 4-chamber view: 31±6% versus 38±8%, p0.0001). A simple regression model, incorporating fractional shortening of RV outflow tract and fractional area change on 4-chamber view allows accurate echocardiographic estimation of the CMR-derived RVEF.Patients with repaired tetralogy of Fallot have markedly different regional systolic RV-function compared to normals, even when the global RV systolic function is preserved. The systolic function of the RV outflow tract and of the RV body are both important determinants of global systolic RV function in these patients. Their prognostic significance needs to be determined.

Aims To determine pregnancy outcome and risk factors for adverse events in women with congenital heart disease (CHD) and residual haemodynamic right ventricular (RV) outflow tract (RVOT) lesions. Methods and results Pregnancy outcome data for women with CHD and residual RVOT lesions have been recorded since 2001. There were 76 pregnancies in 47 women that continued beyond 24 weeks gestation. At conception 20% had RVOT obstruction, 32% had pulmonary regurgitation (PR) and 49% had mixed RVOT obstruction and PR. Moderate-to-severe PR was present in 30 (39%) and RVOT obstruction ≥30 mmHg in 12 (16%) of pregnancies. Seven pregnancies (9%) were complicated by right heart failure (RHF). No arrhythmias were documented. Predictors for RHF were moderate-to-severe PR in combination with at least one additional risk factor (twin pregnancy, branch pulmonary artery stenosis, RV systolic dysfunction, RV hypertrophy). All patients responded to diuretic treatment and had a good pregnancy outcome without foetal complications. Conclusion In patients with CHD and residual RVOT lesions, the outcome of pregnancy is good. Patients with moderate-to-severe PR were at risk for symptomatic RHF only if additional risk factors were present. When treated by a multidisciplinary team, maternal and foetal outcome was good. The general recommendation that pulmonary valve replacement should be undertaken prior to pregnancy in patients with moderate-to-severe PR and RV dilatation needs to be reconsidered.

Background The aim of this study was to develop a mathematical model using two-dimensional echocardiographic parameters to estimate right ventricular end-diastolic volume (RVEDVi) in adults with repaired tetralogy of Fallot. Methods Linear regression equations were used to examine the relationship between two-dimensional echocardiographic and cardiac magnetic resonance (CMR) imaging measures of RVEDVi. Imaging studies in 101 adults were used to create and validate the model. The ability of the model to detect changes in CMR RVEDVi was tested in 57 adults with serial studies. Results The optimal model to quantitate CMR RVEDVi included two-dimensional echocardiographic right ventricular end-diastolic area measured in the apical four-chamber view, indexed to body surface area (AreaDi) (CMR RVEDVi=11.5 + [7 × AreaDi]). The model reliably allowed the detection of stable and changing CMR RVEDVi (κ = 0.84 and κ = 0.82, respectively, P Conclusion Quantitative assessment of right-ventricular volumes by echocardiography is feasible and may be used for serial follow-up in patients with contraindications for CMR.

A routine chest X-ray in a 78-year-old female patient suggested a retained vascular catheter in the right ventricle (RV). On transthoracic echocardiography, a prominent linear echo was found in the RV and the patient was referred for cardiac computed tomography and magnetic resonance imaging. Although neither of these tests showed evidence of a retained foreign body in the RV, they could not clarify the nature of the linear structure within the RV cavity. Finally, transesophageal echocardiography, using a matrix array three-dimensional probe solved the mystery: the linear structure in question within the RV was a large papillary muscle with attachments to the anterior leaflet of the tricuspid valve and an unusual origin from the interventricular septum.