Arrhythmia Burden Among Adult Patients With Congenital Heart Disease: A Population-Based Study.

BACKGROUND: A significant percentage of patients with congenital heart disease surviving into adulthood will develop arrhythmias. These arrhythmias are associated with an increased risk of adverse events and death. We aimed to assess arrhythmia prevalence, risk factors, and associated health care usage in a large national cohort of patients with adult congenital heart disease. METHODS AND RESULTS: Adults with a documented diagnosis of congenital heart disease, insured by Clalit and Maccabi health services between January 2007 and December 2011, were included. We assessed the associations between arrhythmia and subsequent hospitalization rates and death with mixed negative binomial and Cox proportional hazard models, respectively. Among 11 653 patients with adult congenital heart disease (median age, 47 years [interquartile range, 31-62]), 8.7% had a tachyarrhythmia at baseline, 1.5% had a conduction disturbance, and 0.5% had both. Among those without a baseline arrhythmia, 9.2% developed tachyarrhythmias, 0.9% developed a conduction disturbance, and 0.3% developed both during the study period. Compared with no arrhythmia (reference group), arrhythmia in the previous 6 months was associated with a higher multivariable adjusted hospitalization rate, 1.33-fold higher than the rate of the reference group (95% CI, 1.00-1.76) for ventricular arrhythmia, 1.27-fold higher (95% CI, 1.17-1.38) for atrial arrhythmias, and 1.33-fold higher (95% CI, 1.04-1.71) for atrioventricular block. Atrial tachyarrhythmias were associated with an adjusted mortality hazard ratio (HR) of 1.65 (95% CI, 1.44-2.94), and ventricular tachyarrhythmias with a >2-fold increase in mortality risk (HR, 2.06 [95% CI, 1.44-2.94]). CONCLUSIONS: Arrhythmias are significant comorbidities in the adult congenital heart disease population and have a significant impact on health care usage and survival.

Long-Term Outcomes and Characteristics Associated With Mortality of Adult Patients Post Fontan Surgery: 27-Year Single-Center Experience.

Data on the characteristics and long-term outcomes of patients who underwent Fontan surgery and surviving into adulthood are limited. We aimed to describe our center's long-term experience with this unique patient population. Included were adult patients who had undergone Fontan surgery and were followed up at our Adult Congenital Heart Disease clinic between the years 1994 and 2021. We describe cardiac and noncardiac morbidities, medical treatment, laboratory data, echocardiographic characteristics, and all-cause mortality. The primary outcome was a composite of heart failure hospitalizations or death. A total of 107 patients who underwent Fontan surgery were followed up during the study period; 46.7% were male. The mean age at time of Fontan was 7.4 ± 6.2 years and the mean age at the last follow-up or at the time of an outcome event was 35.0 ± 8.0 years (range 21.1 to 62.8). At the last documented follow-up, 74.7% of the cohort were in New York Heart Association functional class I/II. The common morbidities included atrial arrythmias (37%) and stroke (17%). The primary outcome occurred in 17.7%. By the end of the study period, 9.3% of the patients in the cohort died. In a multivariate logistic regression analysis, controlling for gender, age, and Fontan type, worse functional class at the last follow-up (New York Heart Association III/IV vs I/II) was significantly associated with the risk of the primary outcome (odds ratio 34.57, 95% confidence interval 6.728 to 177.623, p <0.001). In conclusion, long-term outcomes of patients surviving into adulthood with a Fontan circulation is encouraging. Most of these patients achieve good functional cardiovascular status, despite the complex anatomy and a substantial burden of co-morbid conditions, specifically, atrial arrythmias and thrombotic events. Functional class was independently associated with heart failure hospitalizations and mortality.

Transcatheter Interventions for Atrioventricular Dysfunction in Patients with Adult Congenital Heart Disease: An International Case Series.

INTRODUCTION: A substantial proportion of patients with adult congenital heart disease (ACHD) suffer from worsening valvular dysfunction in adulthood. Transcatheter valve interventions can offer a therapeutic alternative to surgery for those at high surgical risk. There is emerging but limited data on transcatheter interventions for atrioventricular (AV) valve dysfunction in patients with ACHD. METHODS: We compiled an international collaborative multi-center registry focusing on adult patients with congenital heart disease undergoing transcatheter AV valve interventions (repair or replacement). Included were patients from three international centers who underwent procedures between 2016 and 2022. Demographic, clinical, and procedural data were compiled. RESULTS: Nine patients with ACHD underwent AV valve interventions. The median age was 48 years (IQR (37; 56), 55% women). At baseline, seven patients (78%) were in NYHA functional class III and two (22%) were in NYHA functional class II. The diagnosis of ACHD varied. Three valve interventions were performed on the subpulmonary AV valve and six on the systemic AV valve. The primary valvular pathology was regurgitation (six patients, 78%). Five procedures were valve-in-valve interventions, and four procedures were transcatheter edge-to-edge repair procedures. There were no major complications or peri-procedural complications or peri-procedural mortality. One patient developed a suspected non-obstructive thrombus on the valve that was medically treated. One patient did not improve clinically following the procedure and underwent a heart transplant, one patient died 6 months following the procedure due to a cardiovascular implantable electronic device infection. At one year, six patients were in NYHA functional class I, and one patient was in NYHA functional class III. In conclusion, transcatheter AV heart valve interventions are feasible and safe procedures in carefully selected ACHD patients. These procedures can offer an effective treatment option in these younger patients with high surgical risk.

Self-Reported Mental and Physical Measures in Adult Fontan Patients.

Introduction: The Fontan procedure is a palliative operation for patients with single functional ventricles, arising from a heterogeneous group of heart defects. There is a considerable gap in evidence regarding the self-reported physical and mental health of these patients surviving to adulthood. Methods and Results: We administered the PROMIS® Global Short Form (v 1.2) to Fontan patients during their scheduled clinic visits during 2017−2018. The raw PROMIS scores were subsequently converted to standardized T-scores, where the mean performance was 50 for the general population. We used Cronbach's alpha to assess reliability, with >0.8 considered good. A total of 42 patients were included. The median age was 30 (IQR: 24−34) years and 59% (95% CI: 43−74%) were female. The median time from birth to operation was 4.5 (IQR: 3−8) years, with 55% having an extracardiac Fontan. The questionnaire had good internal reliability with an alpha of 0.87. Seventy-one percent of respondents rated their overall health as "excellent" or "good". The mean T-score for physical health was 46.6, lower than the age-group mean (51.6, p < 0.001). The mean T-score for mental health was 53.3, higher than the age-group mean (48.5, p < 0.001). T-scores showed strong correlation with each other (r = 0.7) and weak correlation with age and time from procedure. There was no association of T-score with diagnosis or operation type. Conclusions: Adult Fontan patients report better mental health despite worse reporting physical health compared with the age group means. Patient-reported measures can provide clinically meaningful insights about the care of patients with complex congenital heart disease.

Heartmate 3 as a bridge to heart transplantation in a patient with congenitally corrected transposition of the great arteries: a case report.

BACKGROUND: We report the first use of Heartmate 3 (HM3) in a Congenitally corrected Transposition of the Great Arteries (ccTGA) as a Systemic Ventricular Assist Device (SVAD) to treat HF. CASE PRESENTATION: A 55 years old man with a Congenitally corrected Transposition of the Great Arteries (ccTGA) a rare condition in which Heart Failure (HF) is a common presentation in adult life and survival without heart transplantation is hardly an option. Systemic Ventricular Assist Device (SVAD) can be an option if an organ does not become available. We present the first ever implantation of HM3 LVAD (Abbott Inc, Chicago IL) implanted to this patient as a bridge to transplantation, demonstrating the safety and feasibility of the procedure. Due to the unique mediastinal configuration, 3D cardiac CT reconstruction should be used for planning the procedure-intra ventricular placement of the inflow as well as mediastinal placemat of the outflow and pump. CONCLUSIONS: This successful first use of HM3 as a SVAD for ccTGA patients, opens a novel treatment option for these patients as a bridge for heart transplant or as definitive treatment.

Complex Catheter-Based Structural Heart Reconstruction in a Patient With Tricuspid Atresia and Björk Palliative Conduit.

Björk conduit failure is a common reason for reintervention after a Björk modification of the Fontan procedure. We describe a first performed in human percutaneous procedure for the treatment of a failing Björk circuit in an adult with congenital heart disease and complex anatomic features. (Level of Difficulty: Advanced.).

Management of ascending aorta perforation during transseptal puncture for left atrial appendage closure: a case report.

BACKGROUND: An 82-year-old female with a history of atrial fibrillation and repeated episodes of major bleeding on direct oral anticoagulant therapy, with a high risk for thromboembolism and was referred for left atrial appendage closure. CASE SUMMARY: During the procedure, an unrecognized puncture of the aorta by the transseptal puncture (TSP) needle and inadvertent advancement of the sheath resulted in ascending aorta perforation. This perforation was closed percutaneously using an Amplatzer™ Duct Occluder (ADO). Reversal of heparinization with protamine sulphate was given to avoid intractable bleeding. However, this resulted in thrombus formation and subsequent embolization causing an ST-elevation myocardial infarction. This was treated with balloon dilatation and thrombus aspiration with subsequent Thrombolysis in Myocardial Infarction 3 flow. DISCUSSION: Inadvertent ascending aorta perforation is a rare yet serious complication that can occur during TSP. Percutaneous closure using an ADO is a viable management option. The reversal of heparin carries a risk of thrombus formation and should be avoided in cases where there is no evidence of overt bleeding.

Long-term outcomes of catheter-based intervention for clinically significant paravalvular leak.

BACKGROUND: In most centres, clinically significant percutaneous paravalvular leak (PVL) closure following valve replacement surgery is reserved for those considered high-risk for surgery. There is a paucity of data regarding the long-term outcomes of these patients. AIMS: Our goals were to assess the long-term outcomes of patients undergoing percutaneous PVL closure. METHODS: A total of 100 consecutive transcatheter PVL closure procedures (74 mitral, 26 aortic) were performed in 95 patients between February 2005 and August 2019 at our hospital. Data collected included procedural success rates, indication-specific outcomes and mortality. RESULTS: Mean follow-up was 5.6±6.1 years, mean age 62.6±15.2 years, and 45.4% were female. The device was successfully implanted in 88 procedures (88.0%). Patients who presented with heart failure (n=57) had a significant improvement in NYHA classification (29.2% Class III/IV versus 100.0%, p<0.001). For patients who presented with haemolytic anaemia (n=38), haemoglobin increased (11.94±1.634 vs 9.72±1.49, p<0.001) and LDH levels were reduced (1,354.90±1,225.55 vs 2,039.40±1,347.20, p<0.001) following the procedure. Rates of mortality were 3.8% at 90 days, 15.6% after 1 year, and 27.2% after 5 years. CONCLUSIONS: For patients who are deemed intermediate- to high-risk for repeat surgery, transcatheter PVL closure shows reasonable clinical success rates, with a significant improvement in symptoms, and a relatively low rate of periprocedural complications.

Health Service Utilization Patterns Among Adults With Congenital Heart Disease: A Population-Based Study.

Background Several studies have examined hospitalizations among patients with adult congenital heart disease (ACHD). Few investigated other services or utilization patterns. Our aim was to study service utilization patterns and predictors among patients with ACHD. Methods and Results We identified 11 653 patients with ACHD aged ≥18 years (median, 47 years), through electronic records of 2 large Israeli healthcare providers (2007-2011). The association between patient, disease, and sociogeographic characteristics and healthcare resource utilization were modeled as recurrent events accounting for the competing death risk. Patients with ACHD had high healthcare utilization rates compared with the general population. The highest standardized service utilization ratios (SSRs) were found among patients with complex congenital heart disease including primary care visits (SSR, 1.53; 95% CI, 1.47-1.58), cardiology outpatient visits (SSR, 5.17; 95% CI, 4.69-5.64), hospitalizations (SSR, 6.68; 95% CI, 5.82-7.54), and days in hospital (SSR, 15.37; 95% CI, 14.61-16.12). Adjusted resource utilization hazard increased with increasing lesion complexity. Hazard ratios (HRs) for complex versus simple disease were: primary care (HR, 1.14; 95% CI, 1.06-1.23); cardiology outpatient visits (HR, 1.40; 95% CI, 1.24-1.59); emergency department visits (HR, 1.19; 95% CI, 1.02-1.39); and hospitalizations (HR, 1.75; 95% CI, 1.49-2.05). Effects attenuated with age for cardiology outpatient visits and hospitalizations and increased for emergency department visits. Female sex, geographic periphery, and ethnic minority were associated with more primary care visits, and female sex (HR versus men, 0.89 [95% CI, 0.84-0.94]) and periphery (HR, 0.72 [95% CI, 0.58-0.90] for very peripheral versus very central) were associated with fewer cardiology visits. Arab minority patients also had high hospitalization rates compared with the majority group of Jewish or other patients. Conclusions Healthcare utilization rates were high among patients with ACHD. Female sex, geographic periphery, and ethnicity were associated with less optimal service utilization patterns. Further research should examine strategies to optimize service utilization in these groups.

Depression and anxiety are associated with high health care utilization and mortality among adults with congenital heart disease.

BACKGROUND: The significance of depression/anxiety among ACHD patients in terms of health care utilization is unknown and data on the association with mortality are scarce. METHODS: Analyses comprised 8334 ACHD patients, age ≥ 18 years, insured by a large healthcare organization (2007-2011). Depression/anxiety were determined by diagnoses and treatments recorded in the organization database. Adjusted utilization relative rates (RRs) were estimated with negative binomial models and mortality hazard ratios (HRs) with the Cox proportional hazard model. RESULTS: ACHD patients with depression/anxiety (N = 2950, 35%) were more likely to be older (mean ±â€¯SD: 54 ±â€¯17 vs. 45 ±â€¯18 years), women (61% vs. 45%), and have comorbidities than counterparts without depression/anxiety. Following multivariable adjustment, patients with depression/anxiety had more primary care and cardiology clinic visits, more emergency department visits and more hospitalizations. RRs (95% confidence interval) were: 1.31 (1.27-1.35); 1.07 (1.01-1.13); 1.60 (1.46-1.77); and 1.18 (1.08-1.29) respectively, for diagnosis before the study period, and 1.36 (1.31-1.42); 1.22 (1.14-1.30); 1.43 (1.24-1.60) and 1.47 (1.33-1.64), respectively, for diagnosis during the study. Stratifying by age, the highest adjusted primary care and cardiology visit RRs were found among 18-24 years old patients and the lowest among patients ≥65 years. Between 2007 and 2017, 905 patients died. Depression/anxiety were associated with increased mortality risk with adjusted HRs: 1.10 (95% CI: 0.94-1.29) for past diagnosis and 1.40 (1.17-1.67) for study period depression/anxiety diagnosis. CONCLUSIONS: Depression/anxiety in ACHD patients is associated with increased health-care utilization and a higher risk of death. The efficacy of addressing patients' psychosocial needs in optimizing health-care utilization and improving prognosis needs further evaluation.

Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations.

MYH7-related disease (MRD) is the most common hereditary primary cardiomyopathy (CM), with pathogenic MYH7 variants accounting for approximately 40% of familial hypertrophic CMs. MRDs may also present as skeletal myopathies, with or without CM. Since pathogenic MYH7 variants result in highly variable clinical phenotypes, from mild to fatal forms of cardiac and skeletal myopathies, genotype-phenotype correlations are not always apparent, and translation of the genetic findings to clinical practice can be complicated. Data on genotype-phenotype correlations can help facilitate more specific and personalized decisions on treatment strategies, surveillance, and genetic counseling. We present a series of six MRD pedigrees with rare genotypes, encompassing various clinical presentations and inheritance patterns. This study provides new insights into the spectrum of MRD that is directly translatable to clinical practice.

[Posture-dependent refractory hypoxemia].

Patent foramen ovate is a common finding in the general population. However, interatrial right to left shunt causing severe hypoxemia in the absence of pulmonary hypertension is a rare finding. The authors describe two such patients suffering from severe hypoxemia refractory to oxygen supplementation. The first, a 57-year-old mate, developed severe hypoxemia several months after right pneumonectomy. The second patient, an 83 year old lady was found with severe hypoxemia after an unrelated fall and the degree of hypoxemia was posture related. Regular transthoracic Doppler echocardiography did not explain the hypoxemia in either patient. One hundred percent oxygen breathing test suggested large right to Left anatomic shunt in both patients. Doppler echocardiography with intravenous agitated saline injection demonstrated the existence of interatrial right to left blood shunting in both patients in the absence of elevated systolic pulmonary artery pressure. Both patients underwent right heart catheterization. Pulmonary arterial hypertension was ruled out and the interatrial shunt was successfully occluded percutaneously by an Amplatzer device. In both patients, hypoxemia resolved immediately after the occlusion of the interatrial shunt and their quality of life improved remarkably. In cases of unexplained refractory hypoxemia, in the absence of acute lung disease, and especially if related to upright posture, one should consider platypnea-orthodeoxia syndrome and its most common cause, a right to left interatrial shunt. This can nowadays be successfully treated percutaneously.

Lung function and cardiopulmonary exercise capacity in patients with corrected tetralogy of Fallot.

BACKGROUND: Since surgical repair of tetralogy of Fallot was introduced, follow-up studies have shown that the majority of patients lead active lives and have no subjective exercise limitation. OBJECTIVES: To examine lung function, cardiopulmonary functional capacity and echo-Doppler assessment of pulmonary pressure in adult patients 20 years after repair of TOF. METHODS: Unselected consecutive patients performed full lung function testing, progressive cardiopulmonary exercise, and echo-Doppler assessments of pulmonary pressure. RESULTS: Fifty consecutive patients (33 men, 17 women) aged 29 +/- 11 years who underwent surgical repair of TOF at age 10.1 +/- 10.9 years were enrolled. Patients after TOF showed no restriction (forced expiratory vital capacity 80%, total lung capacity 91%) and had normal oxygen saturation (97%) and 6 minute walking distance (600 meters). Echocardiography showed normal pulmonary pressure and left ventricular ejection function (62%). Cardiopulmonary exercise testing showed mild limitation of exercise capacity with oxygen uptake at maximal effort of 75-78% predicted. CONCLUSIONS: After corrections of TOF the study patients had normal lung function and pulmonary arterial pressure but mild limitation in their exercise capacity.

Percutaneous closure of perivalvular leaks with Amplatzer occluders: feasibility, safety, and shortterm results.

BACKGROUND AND AIM OF THE STUDY: Perivalvular leak (PVL) may have significant hemodynamic and/or hematological consequences, and re-do surgery is associated with considerable mortality and morbidity. Herein are reviewed the short-term results of percutaneous closure of PVLs using the Amplatzer occluder. METHODS: Eleven patients (five males, six females; mean age 59.7 +/- 7.3 years; range: 46-67 years) were referred for percutaneous closure of PVL using the Amplatzer occluder. Patients presented with congestive heart failure (n = 2), hemolysis (n = 1), or both (n = 8). The average number of previous heart operations was 2.4 +/- 1.3 per patient; seven patients had undergone two or more operations. The procedure was performed under general anesthesia, with fluoroscopic and transesophageal echocardiographic guidance. Antegrade and retrograde approaches were used for the mitral and aortic leaks, respectively. RESULTS: The PVLs were in the mitral position (n = 8), aortic position (n = 1), or both (n = 2). Device deployment was achieved in 11 (91.7%) of 12 attempted valves (10 patients, 90.9%). Failure to cross the leak with the wire occurred in one patient, and interruption of mitral leaflet movement occurred in two patients. Leakage was decreased in six patients (60%), but residual leak was observed at 10 of the 11 sites. Hemolysis was reduced in four patients, increased in four, and remained unchanged in two. An improved NYHA functional class of one grade was noted in five patients. One patient required a second operative session to seal a residual leak. CONCLUSION: Percutaneous closure of PVL using the Amplatzer occluder is feasible, but technically demanding. Although symptoms were improved, there was an inconsistent effect on hemolysis. At present, the Amplatzer occluder should be reserved for poor surgical candidates.

Initial experience with the Amplatzer membranous septal occluder in adults.

OBJECTIVES: Most perimembranous ventricular septal defects (pmVSD) that are still patent in adult life are small, hemodynamically and clinically unimportant, and do not require any intervention. However, surgery in adulthood for those that need to be closed carries significant morbidity. A trans-catheter technique for closing pmVSDs has been developed, and this paper describes our initial experience using the Amplatzer membranous septal occluder (AMSO). PATIENTS/METHODS: Twelve patients, 9 female and 3 male, median age 34.5 years (range: 21-67) underwent catheterization for attempted pmVSD closure. Ten of the defects were native and 2 were post-operative residual defects. Transcatheter VSD closure was performed as previously described, under general anesthesia and with trans-esophageal echocardiographic (TEE) monitoring. Patients had a moderate to large left to right shunt (mean Qp/Qs = 2.0+/-0.4) with mild left heart volume overload and near normal pulmonary pressure. All 10 native pmVSDs were closed successfully, 9 with AMSO and one with an Amplatzer muscular VSD occluder, after failure to implant the AMSO. There was one post procedural complication--self-limiting retroperitoneal bleeding. Three patients had a residual leak. Attempted VSD closure in the 2 patients with post surgery residual shunt was unsuccessful. CONCLUSION: We conclude that transcatheter mVSD closure with the AMSO is an efficient and safe alternative to surgery in carefully selected adult patients with native pmVSDs.

Stroke in congenital heart disease and patent foramen ovale.

Congenital heart disease is usually regarded as an esoteric field of medicine, dealt with primarily by dedicated specialists. However, over the last two decades, increased attention has been given by the medical profession, the media and the general public to the possible association between a minor and common congenital heart defect, namely patent foramen ovale, and stroke. In recent months, unusual and unfortunate circumstances have made this topic one of the most fiercely debated medical issues in Israel. It is the belief of the authors of this paper that the association of PFO and stroke can be better understood if the PFO is viewed as part of the broader context of congenital heart disease, and as such it will be presented. Paradoxical embolism is a mechanism of stroke unique to congenital heart disease. The direction and volume of shunted blood in various conditions have a central role in determining the risk of stroke, as will be explained. With this basic knowledge in mind, we shall critically assess the potential role of PFO in stroke patients, suggesting that each case be evaluated individually using the above-mentioned principles. Conditions that enhance the formation of clot or other embolic material will be discussed briefly. The review will conclude with the various treatment options and our center's own experience with this challenging topic.