Impacto de prótesis valvular pulmonar en la función ventricular derecha y eventos cardiacos en pacientes con tetralogía de Fallot: análisis retrospectivo / Impact of pulmonary valve replacement on ventricular function and cardiac events in patients with tetralogy of Fallot. A retrospective cohort study

Introducción y objetivos: Evaluar el impacto del recambio valvular pulmonar (RVP) en pacientes con tetralogía de Fallot reparada (TFr) en la evolución de los volúmenes y función b-ventricular, y en los eventos adversos.MétodosSe identificó adultos con TFr del registro SACHER. Se evaluó los datos seriados de cardiorresonancia magnética, ecocardiografía, capacidad de ejercicio y fracción aminoterminal del propéptido natriurético cerebral (tipo B) (NT-proBNP). El objetivo primario fue la fracción de eyección del ventrículo derecho (FEVD) medida por cardiorresonancia. Los objetivos secundarios fueron volúmenes biventriculares, capacidad de ejercicio, valores de NT-proBNP y tiempo hasta eventos adversos (arritmia auricular o ventricular, endocarditis). Se analizó las asociaciones entre el RVP previo y las trayectorias longitudinales de los resultados funcionales, y el tiempo hasta los eventos cardiacos adversos con modelos lineales de efectos mixtos y modelos de riesgos proporcionales de Cox, respectivamente.ResultadosSe analizó a 308 pacientes (153 con y 155 sin RVP) con 887 visitas de estudio. No se asoció el RVP de manera significativa con la trayectoria de la FEVD (CE=-1,33; IC95%, –5,87-3,21; p=0,566). Se asoció el RVP previo con menor volumen telediastólico del ventrículo derecho, pero no tuvo efecto significativo en la fracción de eyección del ventrículo izquierdo, capacidad de ejercicio o valores de NT-proBNP. Se asoció el RVP previo con un riesgo incrementado de arritmias auriculares (HR=2,09; IC95%, 1,17-3,72; p=0,012) y endocarditis infecciosa (HR=12,72; IC95%, 4,69-34,49; p<0,0001), pero no con un riesgo aumentado de arritmias ventriculares sostenidas (HR=0,64; IC95%, 0,18-2,27; p=0,490).ConclusionesNo se asoció el RVP previo de manera significativa con la trayectoria de la FEVD, pero sí con un riesgo aumentado de arritmias auriculares y endocarditis infecciosa. (AU)

Introduction and objectives: Our aim was to assess the impact of prosthetic pulmonary valve replacement (PVR) in patients with repaired tetralogy of Fallot (rTOF) on changes in biventricular volumes and function and on adverse cardiac events.MethodsAdults with rTOF were identified from the SACHER-registry. Data from serial cardiac magnetic resonance imaging, echocardiography, exercise capacity and n-terminal pro b-type natriuretic peptide (NT-proBNP) were collected. The primary endpoint was right ventricular ejection fraction (RVEF) as measured by cardiac magnetic resonance. Secondary endpoints were biventricular volumes, left ventricular ejection fraction, exercise capacity and NT-proBNP levels, and time to adverse cardiac outcomes (atrial and ventricular arrhythmia, endocarditis). Associations between previous PVR and longitudinal changes in functional outcomes and time to adverse cardiac outcomes were analyzed using linear mixed-effects models and Cox proportional hazards models, respectively.ResultsA total of 308 patients (153 with and 155 without PVR) with 887 study visits were analyzed. Previous PVR was not significantly associated with changes in RVEF (CE, -1.33; 95%CI, -5.87 to 3.21; P=.566). Previous PVR was associated with lower right ventricular end-diastolic volume but had no significant effect on left ventricular ejection fraction, exercise capacity, or NT-proBNP-levels. Previous PVR was associated with an increased hazard of atrial arrhythmias (HR, 2.09; 95%CI, 1.17-3.72; P=.012) and infective endocarditis (HR, 12.72; 95%CI, 4.69-34.49; P<.0001) but not with an increased hazard of sustained ventricular arrhythmias (HR, 0.64; 95%CI, 0.18-2.27; P=.490).ConclusionsPrevious PVR was not significantly associated with changes in RVEF but was associated with an increased risk of atrial arrhythmias and infective endocarditis. (AU)

Impact of pulmonary valve replacement on ventricular function and cardiac events in patients with tetralogy of Fallot. A retrospective cohort study.

INTRODUCTION AND OBJECTIVES: Our aim was to assess the impact of prosthetic pulmonary valve replacement (PVR) in patients with repaired tetralogy of Fallot (rTOF) on changes in biventricular volumes and function and on adverse cardiac events. METHODS: Adults with rTOF were identified from the SACHER-registry. Data from serial cardiac magnetic resonance imaging, echocardiography, exercise capacity and n-terminal pro b-type natriuretic peptide (NT-proBNP) were collected. The primary endpoint was right ventricular ejection fraction (RVEF) as measured by cardiac magnetic resonance. Secondary endpoints were biventricular volumes, left ventricular ejection fraction, exercise capacity and NT-proBNP levels, and time to adverse cardiac outcomes (atrial and ventricular arrhythmia, endocarditis). Associations between previous PVR and longitudinal changes in functional outcomes and time to adverse cardiac outcomes were analyzed using linear mixed-effects models and Cox proportional hazards models, respectively. RESULTS: A total of 308 patients (153 with and 155 without PVR) with 887 study visits were analyzed. Previous PVR was not significantly associated with changes in RVEF (CE, -1.33; 95%CI, -5.87 to 3.21; P=.566). Previous PVR was associated with lower right ventricular end-diastolic volume but had no significant effect on left ventricular ejection fraction, exercise capacity, or NT-proBNP-levels. Previous PVR was associated with an increased hazard of atrial arrhythmias (HR, 2.09; 95%CI, 1.17-3.72; P=.012) and infective endocarditis (HR, 12.72; 95%CI, 4.69-34.49; P<.0001) but not with an increased hazard of sustained ventricular arrhythmias (HR, 0.64; 95%CI, 0.18-2.27; P=.490). CONCLUSIONS: Previous PVR was not significantly associated with changes in RVEF but was associated with an increased risk of atrial arrhythmias and infective endocarditis.

Determinants of Advanced Liver Fibrosis in Adult Patients After Fontan Palliation: Usefulness of Ultrasound Transient Elastography.

BACKGROUND: Fontan-associated liver disease is an increasing concern. Our aim was to assess prevalence and predictors of advanced liver fibrosis with a specific focus on utility of liver stiffness measurement by ultrasound transient elastography. METHODS: A total of 97 adult Fontan patients (55% male, median age: 23.1 years, interquartile range [IQR]: 18.7-30.6); 92 (95%) were evaluated with transient elastography, and 50 (52%) underwent transjugular liver biopsy. Advanced liver fibrosis was defined as congestive hepatic fibrosis score 3 or 4. RESULTS: Only 4 patients (4%) had liver stiffness values < 10 kilopascal (kPa). Liver-stiffness measurements correlated weakly with peak oxygen uptake on exercise testing and Fontan pressure but not with Model for End-Stage Liver Disease excluding INR (MELD-XI) score or spleen size. Serial follow-up liver stiffness measurements in 73 clinically stable patients showed large variability among individual patients. Advanced liver fibrosis was present in 35 of 50 (70%) patients on liver biopsy and was associated to MELD-XI-Score ≥ 11 and splenomegaly but not to liver-stiffness measurements. Advanced liver fibrosis was not associated with patient age or time since Fontan operation but with younger age at completion of Fontan (3.7 years, IQR: 2.3-6.3 vs 6.8 years; IQR: 3.5-12.1; P = 0.037). CONCLUSIONS: In our cohort, advanced liver fibrosis was present in the majority of adult Fontan patients. Liver stiffness as measured by transient elastography was not associated with the degree of liver fibrosis. Because of its high variability on serial measurements, it seems not to be useful for clinical decision making. The unexpected finding that younger age at completion of Fontan was associated with advanced liver fibrosis merits further evaluation.

Barlow disease: effect of mitral valve repair on ventricular arrhythmias in 82 patients in a retrospective long-term study.

BACKGROUND: Patients (pt) with mitral valve prolapse (MVP) due to Barlow disase (BD) have an increased incidence of ventricular arrhythmias (VA; including ventricular tachycardias VT) and sudden cardiac death (SCD). Data on the effect of MV repair on VA are scarce. METHODS: Pre- and postoperative VA in severe mitral regurgitation (MR) with MVP due to BD undergoing surgical mitral valve repair were analyzed. Patients with degenerative mitral valve disease not fulfilling BD criteria were excluded. Information was from charts, ECG/Holter ECG and/or pacemaker/ implantable cardioverter defibrillator (ICD) data. SCD, sustained VT>30 sec and/or ventricular fibrillation necessitating an ICD-shock were considered major events. Event probability was calculated using the Kaplan-Meier estimator throughout the follow-up period of 20.7 years. RESULTS: There were 82 pts (61% males), mean age at surgery 62±14 years. Bileaflet MVP was present in 54%, mitral annular dysjunction (MAD) in 37% and left ventricular ejection fraction (LVEF) <50% in 12%. MV repair included ring annuloplasty in all and artificial chords in 48%. Mean follow-up was 3.1 years (0.2 to 14.2 years). Postoperative rhythm surveillance by Holter ECG and/or pacemaker was available in 67%. A VA load of ≥10% and/or any VT was noted in 26% before and 32% after surgery (P=0.44). Postoperative VA load was not predicted by MAD, artificial chords, LVEF of <50%, age at surgery >50 years and/or residual ≥moderate MR (all P<0.05), it correlated only with bileaflet MVP (P=0.009). Major events occurred in 3 pts: SCD in 2 pts and ICD for sustained polymorphic VT in 1 pt (incidence 1.2%/year). The event probability of receiving a SCD or an ICD-shock was 4.9%. CONCLUSIONS: VA burden does not seem to change after MV repair in MVP due to BD. The occurrence of major arrhythmic events can not be predicted reliably, thus, patients with MVP due to BD may need lifelong postoperative follow-up, especially in bileaflet MVP which was an independent risk factor for increased VA burden in this retrospective long-term study in a small but well selected patient group.

Impact of a structured patient education programme on early diagnosis of prosthetic pulmonary valve endocarditis.

BACKGROUND: Infective endocarditis is a major threat after prosthetic pulmonary valve replacement. Early diagnosis may improve outcomes. METHODS: A structured patient education programme for prevention and early diagnosis of infective endocarditis was developed at our institution since 2016. Time delay between onset of symptoms of prosthetic pulmonary valve endocarditis and its diagnosis (defined as initiation of appropriate high-dose intravenous antibiotic treatment) was compared for patients presenting before (cohort 1) and after (cohort 2) initiation of the patient education programme. RESULTS: Between 2008-2019, 26 patients (median age 24.9, range: 16.8-62.0 years, 73% male) were diagnosed with prosthetic pulmonary valve endocarditis, 13 patients (cohort 1) before (1.7 cases/year) and 13 patients (cohort 2) after June 2016 (3.7 cases/year). There were no differences in baseline characteristics or clinical presentation between the study cohorts. Overall, the median delay between onset of symptoms and diagnosis of infective endocarditis was 6 days (range: 0-133 days) with a significantly longer delay among patients in cohort 1, compared to cohort 2 (25 days, range: 5-133 days versus 3 days, range: 0-13 days, p < 0.0001). A delay of >7 days was documented in 11/13 patients (85%) in cohort 1 as compared to 1/13 (8%) in cohort 2 (p < 0.001). Need for urgent valve replacement or permanent deterioration of prosthetic valve function was higher in cohort 1, compared to cohort 2 (11/13, 85% versus 5/13, 39%; p = 0.041). CONCLUSIONS: Prosthetic pulmonary valve endocarditis is increasingly recognised. A structured patient education programme may improve early diagnosis and clinical outcomes.

Left ventricular hypertrophy in athletes, a case-control analysis of interindividual variability.

BACKGROUND: A variability in cardiac remodeling is observed in athletes regardless of age, sex, body size and sport participated. We sought to investigate whether other individual characteristics could affect the extent of Left ventricular hypertrophy (LVH). METHODS: From 2120 consecutive Olympic athletes, those with LVH (defined as LV Wall thickness ≥ 13 mm) were matched 1:1 by age, gender, body surface area and type of sport with non-LVH Athletes. Clinical and Echocardiographic variables were compared. RESULTS: 48 athletes with LVH (2.3%) and 48 matched non-LVH athletes were identified. LVH Athletes had higher body weight (90 ± 18 vs 81 ± 11Kg; p = 0.006) body mass index (26 ± 2 vs 24 ± 2 Kg/m2; p < 0.001) and body fat percentage (15 ± 7% vs 12 ± 4%; p = 0.016) compared to non-LVH Athletes. They also had higher systolic (123 ± 1 vs 116 ± 11 mmHg; p = 0.002) and diastolic blood pressure (76 ± 8 vs 71 ± 9 mmHg; p = 0.002). On exercise testing, LVH Athletes reached a lower index workload (3.7 ± 0.9 vs 4.1 ± 0.8 W/Kg; p = 0.013) and a higher peak diastolic blood pressure (79 ± 10 vs 74 ± 11 mmHg; p = 0.012) than those without LVH. Binary logistic regression analysis showed that diastolic blood pressure (OR 1.052; 95% CI from 1.011 to 1.130; p = 0.020) and BMI (OR 1.220; 95% CI from 1.016 to 1.465; p = 0.033) had the strongest association with LVH as categorical variable. CONCLUSIONS: Our study showed that increased blood pressure at rest and during exercise, together with larger body weight, body mass and fat percentage are associated with a higher degree of LVH, which is not associated with a greater physical performance and therefore possibly disproportionate to the sport activity.

High Variability of Right Ventricular Volumes and Function in Adults with Severe Pulmonary Regurgitation Late After Tetralogy of Fallot Repair.

Our aim was to assess changes of right ventricular end-diastolic volumes (RVEDVi) and right ventricular ejection fraction (RVEF) in asymptomatic adults with repaired tetralogy of Fallot, with native right ventricular outflow tract and severe pulmonary regurgitation by serial cardiac magnetic resonance imaging (CMR). The study included 23 asymptomatic adults who underwent ≥3 CMR studies (total of 88 CMR studies). We compared changes in RVEDVi and RVEF between first and last study (median follow-up: 8.8 years, interquartile range: 6.3 to 13.1 years) and between all study pairs. Variability of measurements between study pairs (65 consecutive and 139 nonconsecutive CMR study pairs) were assessed using Bland-Altman analysis and intraclass correlation coefficients. On average, there were no significant changes of RVEDVi or RVEF over the study period (change in RVEDVi: +0.4 ± 17.8 ml/m2, change in RVEF: -1.0 ± 5.5%). Assessment of variability of measurements between study pairs demonstrated no systematic change in RVEDVi and RVEF between study pairs with limits of agreement within the range of previously published studies (RVEDVi -29.1 to +27.2 ml/m2; RVEF -11.5% to 10.2%). High intraclass correlation coefficients for RVEDVi (0.943, 95% CI 0.906 to 0.965, p <0.001) and RVEF (0.815, 95% CI 0.697 to 0.887, p <0.0001) indicate high reliability of reported measurements. In conclusion, in asymptomatic adults with repaired tetralogy of Fallot with native right ventricular outflow tracts and severe pulmonary regurgitation, CMR measurements of RV volumes and RVEF remain stable during follow-up with variability between CMR studies in individual patients, as expected for interobserver and interstudy variability. Measurements derived from a single CMR study or changes occurring between 2 CMR studies should be used with caution for clinical decision-making.

Athletes and Hypertension.

PURPOSE OF REVIEW: We reviewed most current medical literature in order to describe the epidemiology, clinical manifestation, outcome, and management of hypertension in athletes. RECENT FINDINGS: An estimated quarter of the world's population is suffering from hypertension and this prevalence is also reflected in athletes and in individuals involved in leisure time sport activities. Several studies found an inverse relationship between physical activity and blood pressure. Therefore, physical exercise is recommended to prevent, manage, and treat hypertension. On the other hand, the prevalence of hypertension may vary by sport and in some cases may even be higher in athletes competing in certain disciplines than in the general population. Hypertension is the most common medical condition in athletes and may raise concerns about its management and the individual's eligibility for competitive sports. A thorough clinical evaluation should be performed to correctly diagnose or rule out hypertension in athletes, describe the individual's risk profile, rule out secondary causes, and detect possible hypertension-mediated organ damage caused by hypertension at an early stage. Based on most recent clinical research and international consensus documents, we propose a diagnostic algorithm as well the non-pharmacological and pharmacological management of hypertension in athletes. Although elevated blood pressure levels are less common in the active population, athletes are not protected from hypertension. A thorough diagnostic approach may help to identify individual at risk for adverse cardiovascular events and to address the optimal treatment as well as sport recommendations.

The very low risk of myocarditis and pericarditis after mRNA COVID-19 vaccination should not discourage vaccination.

The benefits of vaccination - regarding COVID-19 infection and transmission, as well as COVID-associated complications - clearly outweigh the potential risk of vaccine-associated inflammation of the heart and other adverse events. Given the current state of knowledge, the outcome of myocarditis and pericarditis following vaccination is generally good. This review aims to guide physicians in the early diagnosis and management of suspected myocarditis following mRNA COVID vaccination. The initial work-up should include detailed history, a 12-lead electrocardiogram and serological biomarkers (high-sensitivity cardiac troponin T/I, natriuretic peptides and markers of inflammation) in accordance with the assessments recommended in current clinical practice guidelines for patients presenting with acute chest pain. In patients with suspected myocarditis, further assessment with transthoracic echocardiography and cardiovascular magnetic resonance imaging should be undertaken to confirm peri-/myocarditis and to distinguish the findings from other diseases with similar presentation. Patients with mRNA vaccine-associated myocarditis should be followed-up at least once to exclude chronic myocardial inflammation and deterioration of left ventricular ejection fraction. Consultation with an expert such as an immunologist with experience in vaccination regarding further mRNA vaccinations is advised in all patients with mRNA vaccine-associated perimyocarditis. Reporting of mRNA vaccine-associated myocarditis to Swissmedic is mandatory. Cohort studies prospectively follow-up on young adult and paediatric populations following immunisation with an mRNA COVID vaccine to monitor cardiac and immune parameters would generate valuable knowledge to better understand pathogenesis and risk factors for vaccine-associated perimyocarditis.

Cardiovascular surgery in Turner syndrome - early outcome and long-term follow-up.

BACKGROUND: Cardiovascular disease is the leading cause of death in patients with Turner syndrome (TS), and cardiovascular surgery is frequently required for management of these patients. TS is associated with medical comorbidities than can complicate the care of this patient population. AIM: To describe the cardiovascular surgical outcomes of patients with TS. METHODS: A retrospective case series was compiled of 51 consecutive TS patients who had at least one cardiovascular surgery at Mayo Clinic Rochester from 1977-2017. The baseline clinical data of these patients were reviewed including demographics, medical comorbidities, congenital heart disease history, and medications. Echocardiographic reports were analyzed in detail. Operative reports and surgical hospital courses were reviewed. Long-term mortality was determined using medical records and the Social Security Death Index. Survival analysis was performed with the Kaplan Meier method. RESULTS: The cohort comprised 51 TS patients, average age at the time of surgery at Mayo Clinic was 28 (8-41) years, and 23 (45%) patients were under the age of 18. At the time of first Mayo Clinic surgery, 18 (35%) patients had previously undergone cardiac surgery at another institution. The most common procedures were repair of aortic coarctation in 14 (28%) patients, aortic valve replacement in 6 (12%) patients, and composite aortic root/ascending aorta replacement in 7 (14%) patients, with 7 patients undergoing repair of more than one lesion. Aortic dissection required operative intervention in 5 patients. After initial Mayo Clinic surgery, subsequent operations were required in 6 (13%) patients. Average hospital length of stay was 6 ± 2 d. There were 4 (8%) early surgical deaths. Freedom from death was 97% and 89% at 10 and 20 years, and the freedom from reoperation was 93% and 81% at 10 and 20 years. CONCLUSION: Cardiovascular surgery is associated with 8% early mortality given the medical complexity of TS patients. Those who survive to dismissal have good survival. Later cardiovascular reoperations are not rare.

Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing.

INTRODUCTION: Marfan syndrome (MFS) and related connective tissue disorders (CTDs) are increasingly recognised. Genetic testing has greatly improved the diagnostic outcome/power over the last two decades. In this study we describe a multicentre cohort of adults with MFS and related CTDs, with a particular focus on results from genetic testing. METHODS: All patients with MFS and related CTDs were identified from the databases of five centres in the canton of Zurich. Echocardiographic and clinical findings including systemic Marfan score, use of medication and genetic results were retrospectively analysed. MFS was diagnosed using the revised Ghent criteria (including FBN1 genetic testing if available); other CTDs (Loeys-Dietz syndrome) were diagnosed by genetic testing only. RESULTS: A cohort of 103 patients were identified (62 index patients, 41 relatives of family members): 96 patients with MFS and 7 patients with other CTD, 54 males (52%), median age 23 years (range 1–75). The median systemic Marfan score was 5 (range 0–18). Only 40 patients (40/103, 39%) fulfilled criteria for systemic involvement (≥7 points). A history of aortic dissection was present in 14 out of 103 patients (14%). Echocardiographic data were available for all: aortic root enlargement (Z-score ≥2 in adults, Z-score ≥3 in children) was found in 49 patients (48%) and mitral valve prolapse in 64 (62%). Genetic testing had been performed in 80 patients (78%); FBN1 mutations were present in 69 patients (86%); other pathogenic mutations could be identified in seven patients (9%); no disease-causing mutation was found in four patients, three of them fulfilling the Ghent criteria of MFS. Of the mutation-positive patients, 33 had a systemic score of ≥7 and 43 had a systemic score of ≥5. Revised Ghent criteria were fulfilled in 70 patients: in 69 patients with FBN1 mutations and 1 patient with another CTD. Recommended treatment (beta-blocker, angiotensin receptor blocker) was taken by 63% of patients. CONCLUSIONS: In this cohort a high percentage of patients fulfilling the revised Ghent criteria for MFS underwent genetic testing, often leading to or confirming the diagnosis of MFS. Other CTDs could be discriminated best by genetic testing. With respect to the diagnosis of MFS and related CTDs, the usefulness of the systemic score is limited, showing the importance of genetic testing, which enabled definitive diagnosis in 95% of tested patients. Patient education on medical treatment still has to be improved. (Trial registration no: KEK-ZH-Nr. 2013-0241).

Cerebrovascular accidents in Ebstein's anomaly.

INTRODUCTION: Mechanisms and risk factors for cerebrovascular accidents (CVAs) in Ebstein's anomaly (EA) are not well understood; hence, we aimed to clarify these in a large cohort of EA patients. METHODS: Patients with a confirmed diagnosis of EA were retrospectively reviewed. Baseline characteristics were compared between patients with and without a prior history of CVA using logistic regression modeling. Cox regression analysis was used to identify predictors of CVA following initial evaluation. CVA incidence from birth and following tricuspid valve surgery were estimated using the Kaplan-Meier method. RESULTS: Nine hundred sixty-eight patients (median age 21.1 years, 41.5% male) were included, in which, 87 patients (9.0%) had a history of CVA (54 strokes, 33 transient ischemic attacks; 5 associated with brain abscesses) prior to their initial evaluation. The odds of atrial septal defect/patent foramen ovale (odds ratio [OR] 4.91; 95% CI 2.60-21.22; p = .0002) and migraines/headaches (OR 2.38; 95% CI 1.40-4.04; p = .0013) but not atrial arrhythmias (OR 0.75; 95% CI 0.44-1.30; p = .31) were significantly higher among patients with prior CVA following multivariable adjustment. Seventeen patients experienced CVA following initial evaluation; no examined variables including atrial arrhythmias (HR 2.38; 0.91-6.19; p = .076) were predictive of CVA risk. The 10-year, 50-year, and 70-year incidences of CVA were 1.4%, 15.9%, and 23.5%, respectively, with paradoxical embolism heavily implicated. CONCLUSION: Patients with EA are at substantive risk for CVA. Histories of migraines/headaches and interatrial shunts should prompt concern for paradoxical embolic CVAs. This has significant implications for all patients with atrial-level shunting.

Long-Term Outcomes in Patients With Turner Syndrome: A 68-Year Follow-Up.

Background Turner syndrome ( TS ) is the most common sex chromosome abnormality in women and is associated with increased morbidity and mortality. We describe long-term outcomes in a large cohort of patients with TS . Methods and Results Retrospective review of patients with TS followed at Mayo Clinic Rochester from 1950 to 2017 was performed. Clinical, imaging, surgical, and genetic data were analyzed. Survival analysis was performed with the Kaplan-Meier method using age- and sex-matched Olmsted County residents as the reference group. The study cohort comprised 317 patients with TS . Average age at diagnosis was 9 (range, 2-12) years, genetic testing was performed in 202 (64%), and pure monosomy X was present in 75 (37%). Congenital heart disease occurred in 131 (41%), with the most frequent lesions being bicuspid aortic valve (n=102, 32%) and coarctation of the aorta (n=43, 14%). Ascending aortic dilation was common, with mean aortic root size index 2 cm/m2, and aortic dissection occurred in 6 (2%) patients. The average follow-up was 11 (range, 2-26) years, yielding 3898 patient-years, and during this period 46 (14%) patients died; mean age at the time of death was 53±17 years. Patients with TS had reduced survival compared with the control group (82% versus 94% at 30 years; P<0.001), and the leading causes of death were cardiovascular disease, liver disease, and malignancy. Conclusions Patients with TS have reduced survival compared with age-matched controls, and cardiovascular disease is the major cause of death. Further studies are required to determine if targeted cardiovascular risk factor modification will result in improved survival in this population.

High blood pressure response to exercise predicts future development of hypertension in young athletes.

Aims: Due to superior exercise performance, athletes show higher blood pressure (BP) at peak exercise compared to untrained individuals. Thus, higher reference values for peak exercise systolic and diastolic BP were reported specifically for athletes. However, the prognostic significance of high blood pressure response (HBPR) to exercise has not yet been clarified in this population. Methods and results: One hundred and forty-one normotensive athletes with HBPR to exercise were compared to 141 normotensive athletes with normal blood pressure response (NBPR) to exercise, matched for gender, age, body size, and type of sport. All athletes were followed up for 6.5 ± 2.8 years. Over follow-up, no cardiac events occurred; 24 athletes were diagnosed essential hypertension (8.5%). Specifically, 19 (13.5%) belonged to the HBPR compared with 5 (3.5%) in the NBPR group (P = 0.003). Kaplan-Meier analysis confirmed that the incidence of hypertension during follow-up was higher in the HBPR group (log-rank χ2P-value = 0.009). Multivariable analysis by Cox proportional hazard survival model showed that resting BP and HBPR at baseline evaluation were the strongest predictors of incident hypertension (χ2 for the model 30.099; P < 0.001). Specifically, HBPR was associated with a hazard ratio of 3.6 (95% confidence interval 1.3-9.9) of developing hypertension. Over follow-up exercise capacity, as well as morphologic and functional cardiac parameters in athletes from both groups did not change significantly. Conclusion: The present study showed that an exaggerated BP response to exercise increased the risk for incident hypertension in highly trained and normotensive athletes over a middle-term period.

[The Old-Age Heart]. / Das Herz im Alter.

The Old-Age Heart Abstract. Knowledge of cardiovascular changes in old age and their therapeutic options is important. Old age can lead to hypertrophy of the left ventricle, diastolic dysfunction, heart valve changes and pulmonary hypertension. Patients often develop arterial hypertension. Valvular changes are common in people over 100 years of age (aortic stenosis and mitral insufficiency). The risk of coronary heart disease is 35 % for men and 24 % for women. In old age, sinus node dysfunction and atrial fibrillation are common. 25 % of all strokes are cardiac embolisms in atrial fibrillation. Cardiac interventions in the elderly are increasingly frequent and include coronary catheter revascularization or valve interventions (percutaneous aortic valve replacement or MitraClip). Optimal therapy in old age includes not only cardiovascular interventions also include drugs and a lifestyle modification and mainly serves to improve the quality of life.

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.

Mid-term Outcome of 100 Consecutive Ross Procedures: Excellent Survival, But Yet to Be a Cure.

The Ross procedure offers excellent short-term outcome but the long-term durability is under debate. Reinterventions and follow-up of 100 consecutive patients undergoing Ross Procedure at our centre (1993-2011) were analysed. Follow-up was available for 96 patients (97%) with a median duration of 5.3 (0.1-17.1) years. Median age of the patient cohort was 15.2 (0.04-58.4) years with 76 males. 93% had underlying congenital aortic stenosis. Root replacement technique was applied in all. The most common valved conduits used for reconstruction of the right ventricular outflow tract were homografts (66 patients) and bovine jugular vein (ContegraR) graft (31 patients). Additional procedures included Ross-Konno procedure (14%), resection of subaortic stenosis/myectomy (11%) and reduction plasty of the ascending aorta (25%). One patient died within the first 30 days (1%). Late deaths occurred in 4 patients (4%) 0.5-4.5 years postoperatively: causes included pulmonary hypertension due to endocardial fibroelastosis (2), subarachnoid haemorrhage (1) and sudden cardiac death (1). Five-year survival was 93.6 (95% CI 88.1-99.1)%. Moderate or severe aortic (autograft) regurgitation needing reoperation occurred in 8 patients with a 5-year freedom from autograft reoperation of 98.5 (95.6-100)%. Five-year freedom from reintervention (surgery or catheter based) on the right ventricular outflow tract conduit was 91.5 (85.5-96.5)%. Univariate predictors of this reinterventions were smaller graft size (p = 0.03) and use of a ContegraR graft (p = 0.04). Ross procedure can be performed with low mortality and good survival in the long term. Most of the reinterventions are related to the neo-right ventricular outflow tract and may be partly attributed to the lack of growth. While the Ross Procedure remains an invaluable option for aortic valve disease in children, new solutions for the neo-pulmonary valve as well as for the less often occurring problems on the autograft are needed.

Sudden death in patients with Ebstein anomaly.

Aims: Ventricular dysfunction or structural alteration of either ventricle is a well-established risk factor for sudden death (SD). Ebstein anomaly (EA) can present with both right and left heart abnormalities; however, predictors of SD have not been described. We therefore sought to characterize the incidence and risk factors of SD among a large cohort of patients with EA. Methods and results: All EA patients who underwent evaluation at a high-volume institution over a 4-decade period were retrospectively reviewed. Clinical variables, cardiovascular surgical procedure(s), and cause of death were recorded. Sudden death incidence from birth and following tricuspid valve (TV) surgery were estimated using the Kaplan-Meier method. Cox regression analysis was used to identify clinical and surgical predictors of SD. The cohort comprised of 968 patients [mean age 25.3 years, 41.5% male; 79.8% severe EA, 18.6% accessory pathway, 0.74% implantable cardioverter-defibrillator (ICD) placement]. The 10-, 50-, and 70-year cumulative incidences of SD from birth were 0.8%, 8.3%, and 14.6%, respectively. Prior ventricular tachycardia [hazard ratio (HR) 6.37, P < 0.001)], heart failure (HR 5.64, P < 0.001), TV surgery (HR 5.94, P < 0.001), syncope (HR 2.03, P = 0.019), pulmonic stenosis (HR 3.42, P = 0.001), and haemoglobin > 15 g/dL (HR 2.05, P = 0.026) were multivariable predictors of SD. In a similar subgroup analysis of patients who underwent TV surgery, all of the above factors except syncope were significantly associated with post-operative SD on multivariable analysis. Conclusion: Patients with EA are at significant risk for SD. Key clinical SD predictors identified can aid in risk stratification and potentially guide primary prevention ICD implantation.

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.