Morbidity and mortality in adults with a Fontan circulation beyond the fourth decade of life.

AIMS: To evaluate the late outcomes of adults (above 35 years) with a Fontan-type circulation, for whom current data on morbidity and mortality are lacking. METHODS AND RESULTS: Data were collected retrospectively on consecutive patients with Fontan circulation above the age of 35 years followed in three European specialist centres. Overall, 115 Fontan patients were included [median age 35 (range 35-48) years, 47.8% female]. The most common underlying congenital heart disease diagnosis was tricuspid atresia (n = 58, 50.4%), and the age at first Fontan completion was 9.1 (interquartile range 5.0-15.8) years. Almost two-thirds (61.7%) of patients had undergone an atriopulmonary Fontan, and 23.5% had received a total cavopulmonary connection. One-third required repeat surgery or intervention. Most patients (55.9%) were in New York Heart Association functional class II or class I (30.6%), 76 (66.1%) patients had experienced at least one arrhythmia, and eight (7.0%) protein-losing enteropathy. At a median follow-up of 5.0 (2.4-10.3) years, 15 (13.0%) patients were referred for transplantation assessment and 19 (16.5%) patients died, mainly from heart failure (84.2%). Univariable predictors of death or transplantation included lower serum albumin level [hazard ratio (HR) 1.09 per g/L decrease, 95% confidence interval (CI): 1.04-1.15, P = 0.0009], prior heart failure admission (HR 4.28, 95% CI:1.75-10.44, P = 0.001), prior atrial tachycardia or flutter (HR 3.02, 95% CI: 1.23-7.38, P = 0.02), and baseline pulmonary vasodilator therapy (HR 8.59, 95% CI:1.05-70.13, P = 0.04). Lower serum albumin and prior atrial tachycardia or flutter remained significant on bivariable analysis. CONCLUSION: Our study highlights the significant morbidity and mortality in older adults with a Fontan-type circulation, emphasizing the need for lifelong specialist surveillance with frequent risk stratification, close monitoring, and early consideration for transplantation assessment.

This study sheds light on the complex medical journey of adults living with the outcomes of Fontan surgery­a procedure performed in early childhood. These individuals have reached the milestone of their forties and beyond, yet they confront an array of significant health challenges that necessitate lifelong, individualized congenital heart disease care. The key findings are as follows: While adults with Fontan circulation are living longer, they are at high risk of death, mainly due to heart failure. They also face a host of other health issues, including the need for additional surgeries or interventions. Nearly two-thirds have experienced some form of heart rhythm problem, and a substantial number eventually require evaluation for a heart transplant.Heart transplants within this group were rare, which may be linked to the various barriers to transplantation in the Fontan population. Moreover, those with multiple indicators of advanced disease have a heightened risk of life-threatening events, reinforcing the critical need for personalized and continuous specialist care designed to meet their distinct health requirements.

Infective endocarditis in adults with congenital heart disease: Contemporary management and related outcomes in Central and South-Eastern European region.

BACKGROUND: Infective endocarditis (IE) remains major cause of morbidity and mortality in adult congenital heart disease (ACHD). Limited data exists on ACHD with IE in Central and South-Eastern European (CESEE) countries. The aim of this study is to characterize contemporary management and assess outcomes of ACHD with IE in CESEE region. METHODS: Data on ACHD patients with IE from 9 tertiary centres in 9 different CESEE countries between 2015 and 2020 was included. Baseline demographics, clinical presentation, indication for surgery, outcomes, hospital and all-cause-1-year mortality were studied. RESULTS: A total of 295 ACHD patients (mean age 40 ± 14 years) with IE were included. Median time from symptoms onset to establishing diagnosis was 25 (11-59) days. The majority of patients (203, 68.8%) received previous empiric oral antibiotic therapy. The highest incidence of IE was observed on native and left sided valves, 194(65.8%) and 204(69.2%), respectively. More than half had a vegetation size ≥10 mm (164, 55.6%); overall 138 (46.8%) had valve complications and 119 (40.3%) had heart failure. In-hospital mortality was 26 (8.8%). CONCLUSION: There is clear delay in establishing IE diagnosis amongst ACHD patients in CESEE countries. Adequate diagnosis is hampered by common prescription of empiric antibiotics before establishing formal diagnosis. Hence, patients commonly present with associated complications requiring surgery. Hospital treatment and survival are, nevertheless, comparable to other Western European countries. Improved awareness and education of patients and medical profession regarding IE preventive measures, risks, signs, and symptoms are urgently needed. Empiric antibiotic prescription before blood cultures are taken must be omitted.

Eisenmenger Syndrome: JACC State-of-the-Art Review.

Although major breakthroughs in the field of pediatric cardiology, cardiac surgery, intervention, and overall care improved the outlook of congenital heart disease, Eisenmenger syndrome (ES) is still encountered and remains a complex clinical entity with multisystem involvement, including secondary erythrocytosis, increased thrombotic and bleeding diathesis, high arrhythmogenic risk, progressive heart failure, and premature death. Clearly, care for ES is best delivered in multidisciplinary expert centers. In this review, we discuss the considerable recent progress in understanding the complex pathophysiology of ES, means of prognostication, and improvement in clinical outcomes achieved with pulmonary arterial hypertension-targeted therapies. Additionally, we delineate areas of uncertainty in various aspects of care, discuss gaps in current evidence, and review current status in less privileged countries and propose initiatives to reduce disease burden. Finally, we propose the application of emerging technologies to enhance the delivery and quality of health care related to ES and beyond.

Atrial septal defect in adulthood: a new paradigm for congenital heart disease.

Atrial septal defects (ASDs) represent the most common congenital heart defect diagnosed in adulthood. Although considered a simple defect, challenges in optimal diagnostic and treatment options still exist due to great heterogeneity in terms of anatomy and time-related complications primarily arrhythmias, thromboembolism, right heart failure and, in a subset of patients, pulmonary arterial hypertension (PAH). Atrial septal defects call for tertiary expertise where all options may be considered, namely catheter vs. surgical closure, consideration of pre-closure ablation for patients with atrial tachycardia and suitability for closure or/and targeted therapy for patients with PAH. This review serves to update the clinician on the latest evidence, the nuances of optimal diagnostics, treatment options, and long-term follow-up care for patients with an ASD.

Emergency department management of patients with adult congenital heart disease: a consensus paper from the ESC Working Group on Adult Congenital Heart Disease, the European Society for Emergency Medicine (EUSEM), the European Association for Cardio-Thoracic Surgery (EACTS), and the Association for Acute Cardiovascular Care (ACVC).

Adult congenital heart disease (ACHD) patients represent a growing population with increasing use of acute emergency department (ED) care. Providing comprehensive ED care necessitates an understanding of the most common clinical scenarios to improve morbidity and mortality in this population. The aim of this position document is to provide a consensus regarding the management of the most common clinical scenarios of ACHD patients presenting to the ED.

Adult congenital heart disease: Past, present and future.

The diagnosis and management of congenital heart disease (CHD), the most common inborn defect, has been a tremendous success story of modern medicine. In the 1950s, survival of children born with CHD was only approximately 15%, whereas nowadays more than 90% of these children survive well into adulthood. Consequently, the prevalence of patients with CHD has shifted away from infancy and childhood towards adulthood. Adult CHD cardiology is now encompassing not only young or middle-aged adults but also patients with CHD over 60 years old. Many adult patients are afflicted by residual haemodynamic lesions and also face additional opportunities and/or challenges such as pregnancy, acquired heart disease, non-cardiac pathology etc., necessitating integrated care and all medical disciplines. We are faced with a "tsunami" in terms of adult CHD numbers, disease heterogeneity and complexity of work and interventions needed. We need to secure resources, welcome more people in our field, learn from "marching with our patients", and educate better patients, public and ourselves so that every single patient with CHD, born anywhere in the world, may reach their full life potential.

Systemic Right Ventricle in Adults With Congenital Heart Disease: Anatomic and Phenotypic Spectrum and Current Approach to Management.

The systemic right ventricle (SRV) is commonly encountered in congenital heart disease representing a distinctly different model in terms of its anatomic spectrum, adaptation, clinical phenotype, and variable, but overall guarded prognosis. The most common clinical scenarios where an SRV is encountered are complete transposition of the great arteries with previous atrial switch repair, congenitally corrected transposition of the great arteries, double inlet right ventricle mostly with previous Fontan palliation, and hypoplastic left heart syndrome palliated with the Norwood-Fontan protocol. The reasons for the guarded prognosis of the SRV in comparison with the systemic left ventricle are multifactorial, including distinct fibromuscular architecture, shape and function, coronary artery supply mismatch, intrinsic abnormalities of the tricuspid valve, intrinsic or acquired conduction abnormalities, and varied SRV adaptation to pressure or volume overload. Management of the SRV remains an ongoing challenge because SRV dysfunction has implications on short- and long-term outcomes for all patients irrespective of underlying cardiac morphology. SRV dysfunction can be subclinical, underscoring the need for tertiary follow-up and timely management of target hemodynamic lesions. Catheter interventions and surgery have an established role in selected patients. Cardiac resynchronization therapy is increasingly used, whereas pharmacological therapy is largely empirical. Mechanical assist device and heart transplantation remain options in end-stage heart failure when other management strategies have been exhausted. The present report focuses on the SRV with its pathological subtypes, pathophysiology, clinical features, current management strategies, and long-term sequelae. Although our article touches on issues applicable to neonates and children, its main focus is on adults with SRV.

Body mass index in adult congenital heart disease.

OBJECTIVE: Abnormal body mass index (BMI) is associated with higher mortality in various cardiovascular cohorts. The prognostic implications of BMI in adults with congenital heart disease (ACHD) are unknown. We aim to assess the distribution of BMI and its association with symptoms and survival in the ACHD population. METHODS: We included 3069 ACHD patients (median age 32.6 years) under follow-up at our institution between 2001 and 2015. Patients were classified based on BMI as underweight (<18.5), normal weight (18.5-25), overweight (25-30) or obese (>30), and symptoms, exercise capacity and mortality were assessed. RESULTS: Overall, 6.2% of patients were underweight, 51.1% had normal weight, 28.2% were overweight and 14.6% were obese. Higher BMI values were associated with lower all-cause and cardiac mortality on univariable Cox analysis, and this effect persisted after adjustment for age, defect complexity, cyanosis and objective exercise capacity. Higher BMI was especially associated with better prognosis in symptomatic ACHD patients (HR 0.94 (95% CI 0.90 to 0.98), p=0.002) and those with complex underlying cardiac defects (HR 0.96 (95% CI 0.91 to 0.997), p=0.048) In patients with a complex cardiac defect who had repeated weight measurements, weight loss was also associated with a worse survival (HR 1.82 (95% CI 1.02 to 3.24), p=0.04). CONCLUSIONS: ACHD patients with a higher BMI had a lower mortality. The association between BMI and mortality was especially pronounced in symptomatic patients with complex underlying cardiac defects, suggesting that cardiac cachexia may play a role. Indeed, weight loss in complex ACHD patients was linked to an even higher mortality.

Early mortality and concomitant procedures related to Fontan conversion: Quantitative analysis.

BACKGROUND: The Fontan palliation is associated with numerous complications during long-term. The Fontan conversion operation has been advocated as an option to avoid some of these problems by converting classical Fontan types to modern forms of the circulation. Early mortality of Fontan conversion, however, remains unclear as available reports include limited numbers of patients and the results are heterogeneous. METHODS: We reviewed all original articles from 1994 to 2016 reporting Fontan conversion operations. Reports were analysed with specific reference to patient demographics, patient number, concomitant arrhythmia surgery, pacemaker implantation and early mortality. RESULTS: Overall, 37 Fontan conversion studies with a total of 1182 patients were analysed, including 35 single-centre studies and 2 registers. In the 35 single-centre studies the average age at the time of conversion was 21.6years (range 10.2-30.9years). Concomitant arrhythmia operation was performed in 71.6% of patients and concomitant pacemaker implantation procedure was performed in 59.3% of patients. Early mortality varied greatly between publications ranging from 0 to 21%. Based on a random and a fixed effect model mean mortality was 5.3% and 6.2%, respectively. Lower mortality was observed in series including younger patients at the time of conversion (average age<20years, 4.6%) and in the highest volume centre (1.4%). CONCLUSION: Fontan conversion carries a substantial mortality risk. However, results vary between centres. Overall, the combination with arrhythmia surgery seems to be associated with lower early mortality especially when patients are referred at an earlier age and are treated at highly experienced centres.

Interactions of MinK and e-NOS gene polymorphisms appear to be inconsistent predictors of atrial fibrillation propensity, but long alleles of ESR1 promoter TA repeat may be a promising marker.

Interactions of MinK and e-NOS Gene Polymorphisms Appear to Be Inconsistent Predictors of Atrial Fibrillation Propensity, but Long Alleles of ESR1 Promoter TA Repeat May Be a Promising Marker. We analyzed minK, e-NOS and ESR1 gene polymorphisms in 40 patients with atrial fibrillation (AF) without major structural heart disease compared to 35 healthy controls. A missense polymorphism in the minK gene with A/G substitution at nucleotide 112 causing serine (S) to glycine (G) change, 786 T/C polymorphism in the 5' flanking region of e-NOS gene and TA polymorphism in the regulatory region of estrogen receptor ESR1 gene with long (> or = 19 TA repeats) and short alleles were examined. Only a slight increase in minK G allele frequency, but with marked excess in AG/TT combination of minK and e-NOS polymorphisms was found in the AF group. The interpretation remains tentative due to small groups precluding statistical significance of differences, possible lab flaws and inconsistencies with earlier data. However, ESR1 long allele homozygotes were strikingly more frequent in the AF than in control group, reaching statistical significance surprisingly in males (p < 0.02). Functional activity of estrogen receptors may be more critical in males than in females with abundance of circulating estrogen. Contrasting the intricate complexity of genetic polymorphisms influencing cardiac rhythm with our modest research, we would limit the conclusion to the plea for further research of ESR1 role in AF.