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Congenital heart defects (CHD) are the most common congenital anomalies in liveborn children. In contrast to syndromic CHD (SCHD), the genetic basis of isolated CHD (ICHD) is complex, and the underlying pathogenic mechanisms appear intricate and are incompletely understood. Next to rare Mendelian conditions, somatic mosaicism or a complex multifactorial genetic architecture are assumed for most ICHD. We performed exome sequencing (ES) in 73 parent–offspring ICHD trios using proband DNA extracted from cardiac tissue. We identified six germline de novo variants and 625 germline rare inherited variants with ‘damaging’ in silico predictions in cardiac-relevant genes expressed in the developing human heart. There were no CHD-relevant somatic variants. Transmission disequilibrium testing (TDT) and association testing (AT) yielded no statistically significant results, except for the AT of missense variants in cilia genes. Somatic mutations are not a common cause of ICHD. Rare de novo and inherited protein-damaging variants may contribute to ICHD, possibly as part of an oligogenic or polygenic disease model. TDT and AT failed to provide informative results, likely due to the lack of power, but provided a framework for future studies in larger cohorts. Overall, the diagnostic value of ES on cardiac tissue is limited in individual ICHD cases.

Background: The population of adults with tetralogy of Fallot (TOF) or pulmonary atresia with ventricular septal defect (PA/VSD) is growing and aging. Data regarding older patients are scarce. Prognostic outcome parameters in adults with TOF or PA/VSD &ge, 40 years were studied. Methods: This was a retrospective study of patients &ge, 40 years of age during the study period (January 2005&ndash, March 2018). Major adverse cardiac events (MACE) were a combined primary endpoint including death from any cause, prevented sudden cardiac death, pacemaker implantation, arrhythmia, and new-onset heart failure. Additionally, MACE II (secondary endpoint) was a combination of death from any cause and prevented sudden cardiac death. Results: 184 (58.7% female, mean age 45.3 &plusmn, 7.2 years) patients were included (159 (86.4%) TOF and 25 (13.6%) PA/VSD). During a median follow-up of 3.1 years (IQR: 0.6&ndash, 6.5), MACE occurred in 35 and MACE II in 13 patients. On multivariable analysis, New York Heart Association class [HR: 2.1, 95% CI: 1.2&ndash, 3.6, p = 0.009] emerged as an independent predictor for MACE, and age at corrective surgery [HR: 13.2, 95% CI: 1.6&ndash, 107.1, p = 0.016] for MACE II. Conclusions: Adults with TOF or PA/VSD &ge, 40 years are burdened with significant morbidity and mortality. New York Heart Association class and age at corrective surgery were independent predictors of outcome.

Background: Pulmonary valve replacement is very common among patients with congenital heart disease. The Carpentier Edwards Perimount valve (Edwards Lifesciences, Irvine, Calif), which was originally designed for the aortic position is among the most implanted valves. We aim to describe the follow-up of this valve in the pulmonary position.Methods: Patients with a Perimount valve implanted between 2003 and 2013 in the University Medical Center Groningen were followed for the primary end point reintervention, defined as surgical or transcatheter valve replacement. Secondary end point was the occurrence of valve failure, defined as significant valvular regurgitation or stenosis. Explanted valves were histologically examined.Results: Forty-five patients (median age at operation 27.8 years, 55.6% women) had a mean follow-up duration of 5.8 +/- 3.3 years. There were 7 reinterventions (5 surgical and 2 transcatheter). Freedom from reintervention was respectively 95% +/- 4% and 83% +/- 8% at 5- and 10- years of follow-up. Freedom from valve failure was 75% +/- 4% at 2 years, 65% +/- 8% at 5 years of follow-up and 57% +/- 10% at 10 years of follow-up. Morphology evaluation (n = 4) showed stiffened valves in the open position, with extensive fibrous tissue overgrowth on the leaflets and a variable proliferation of myofibroblasts.Conclusions: The Perimount valve has adequate function in the pulmonary valve position at 5 years of follow-up, although after 10 years of follow-up valve failure and reinterventions are common. Explanted valves show retraction and stiffening of the leaflets due to a fibrotic layer on both sides of the leaflet.

Aims In adults with congenital heart disease (CHD) heart failure is one of the leading causes of morbidity and mortality but experience with and reported outcome of cardiac resynchronization therapy (CRT) is limited. We investigated the efficacy of CRT in adults with CHD.Methods and results This was a retrospective study including 48 adults with CHD who received CRT since 2003 in four tertiary referral centres. Responders were defined as patients who showed improvement in NYHA functional class and/or systemic ventricular ejection fraction by at least one category. Ventricular function was assessed by echocardiography and graded on a four point ordinal scale. Median age at CRT was 47 years (range 18-74 years) and 77% was male. Cardiac diagnosis included tetralogy of Fallot in 29%, (congenitally corrected) transposition of great arteries in 23%, septal defects in 25%, left sided lesions in 21%, and Marfan syndrome in 2% of the patients. The median follow-up duration after CRT was 2.6 years (range 0.1-8.8). Overall, 37 out of 48 patients (77%) responded to CRT either by improvement of NYHA functional class and/or systemic ventricular function. There were 11 nonresponders to CRT. Of these, three patients died and four underwent heart transplantation.Conclusion In this cohort of older CHD patients, CRT was accomplished with a success rate comparable to those with acquired heart disease despite the complex anatomy and technical challenges frequently encountered in this population. Further studies are needed to establish appropriate guidelines for patient selection and long term outcome.

BACKGROUND: Conflicting results have been reported regarding employment status and work ability in adults with congenital heart disease (CHD). Since this is an important determinant for quality of life, we assessed this in a large international adult CHD cohort. METHODS: Data from 4028 adults with CHD (53% women) from 15 different countries were collected by a uniform survey in the cross-sectional APPROACH International Study. Predictors for employment and work limitations were studied using general linear mixed models. RESULTS: Median age was 32 years (IQR 25-42) and 94% of patients had at least a high school degree. Overall employment rate was 69%, but varied substantially among countries. Higher education (OR 1.99-3.69) and having a partner (OR 1.72) were associated with more employment; female sex (OR 0.66, worse NYHA functional class (OR 0.67-0.13), and a history of congestive heart failure (OR 0.74) were associated with less employment. Limitations at work were reported in 34% and were associated with female sex (OR 1.36), increasing age (OR 1.03 per year), more severe CHD (OR 1.31-2.10), and a history of congestive heart failure (OR 1.57) or mental disorders (OR 2.26). Only a university degree was associated with fewer limitations at work (OR 0.62). CONCLUSIONS: There are genuine differences in the impact of CHD on employment status in different countries. Although the majority of adult CHD patients are employed, limitations at work are common. Education appears to be the main predictor for successful employment and should therefore be encouraged in patients with CHD. ispartof: CONGENITAL HEART DISEASE vol:14 issue:3 pages:362-371 ispartof: location:United States status: published

Contains fulltext : 208475.pdf (Publisher’s version ) (Open Access) Tetralogy of Fallot (ToF) is the most common type of cyanotic congenital heart disease. Since the first surgical repair in 1954, treatment has continuously improved. The treatment strategies currently used in the treatment of ToF result in excellent long-term survival (30 year survival ranges from 68.5% to 90.5%). However, residual problems such as right ventricular outflow tract obstruction, pulmonary regurgitation, and (ventricular) arrhythmia are common and often require re-interventions. Right ventricular dysfunction can be seen following longstanding pulmonary regurgitation and/or stenosis. Performing pulmonary valve replacement or relief of pulmonary stenosis before irreversible right ventricular dysfunction occurs is important, but determining the optimal timing of pulmonary valve replacement is challenging for several reasons. The biological mechanisms underlying dysfunction of the right ventricle as seen in longstanding pulmonary regurgitation are poorly understood. Different methods of assessing the right ventricle are used to predict impending dysfunction. The atrioventricular, ventriculo-arterial and interventricular interactions of the right ventricle play an important role in right ventricle performance, but are not fully elucidated. In this review we present a brief overview of the history of ToF, describe the treatment strategies currently used, and outline the long-term survival, residual lesions, and re-interventions following repair. We discuss important remaining challenges and present the current state of the art regarding these challenges.

Background: Adult congenital heart disease (ACHD) guidelines advise life-long, regular, follow up in predefined intervals for ACHD patients. However, limited data exist to support this position. We examine, herewith, compliance to scheduled outpatient clinic appointments and its impact on outcome. Methods and results: We examined 4461 ACHD patients (median age at entry 26.4 years, 51% female) and their follow up records at our tertiary centre between 1991 and 2008. Clinic attendance was quantified from electronic hospital records. For survival analysis we employed the last clinic attendance before 2008 as starting of follow-up. Overall 23% of scheduled clinic appointments were not attended. The main predictors of clinic non-attendance (CNA) were younger age, non-Caucasian ethnicity, lower socioeconomic status, number of previous CNAs and the lack of planned additional investigation/s (e.g. echocardiography) scheduled on the same day. During a cumulative follow-up time of 48,828 patient-years, 366 (8.2%) patients died. Both, the number of CNAs (HR = 1.08, 95% CI 1.05–1.12 per CNA, P < 0.001) and the ratio of CNA to follow up period (HR = 1.23, 95% CI 1.04–1.44 per CNA/year, P = 0.013) emerged as predictors of mortality independent of adjustment for patients' age, disease complexity, functional class and socioeconomic status. Conclusions: Patient adherence to scheduled ACHD outpatient-clinics is associated with better survival. Identifying patients at an increased risk of CNA in a single tertiary centre is feasible. Our data provides previously lacking evidence supporting the practice of periodic assessment of ACHD patients at tertiary clinics. Non-attenders should be specifically targeted and receive counselling to modulate their increased risk of death.

Introduction: There is a dearth of literature on tetralogy of fallot (TOF) in children in Sub-Saharan Africa. This study up aims to describe the prevalence, clinical profile and associated cardiac anomaly of children diagnosed with TOF documented over an eight year period in a tertiary hospital in South Western Nigeria. Methods: A prospective review of all consecutive cases of TOF diagnosed with echocardiography at the Lagos State University Teaching Hospital (LASUTH) between January 2007 and December 2014. Data were analyzed using SPSS version 20. Tables and charts were used to depict those variables. Descriptive statistic are presented as percentages or means and standard deviation. Means of normally distributed variables were compared using the student t-test and proportions using chi-square test. Skewed distribution were analyzed using appropriate non-parametric tests. Level of significance set at P < 0.05. Result: The prevalence of TOF among children presenting at LASUTH at the study period was 4.9 per 10 000 while its prevalence among those with congenital heart disease was 16.9%. There was a male predominance and most children presented within 1-5 years of age. Chromosomal abnormalities such as Down syndrome, Turners syndrome and CATCH 22 syndrome were documented in some subjects. Some of the subjects had atypical presentation. Conclusion: TOF is as common in Nigeria as other parts of the world, there is a need to established cardiac centers to salvage these children. Collaboration from developed countries will be helpful in this resource limited region.

The World Pulmonary Hypertension Symposium in 2013 (Nice, France) introduced a new entity in the classification for pediatric and adult patients called “segmental pulmonary hypertension (PH).”1 Segmental PH was described in the international 2015 guidelines as PH “observed in discrete lung areas perfused by aortopulmonary collaterals in congenital heart diseases such as pulmonary or tricuspid atresia,”2 while the proceedings of the Nice World Symposium1 defined this as “PH in one or more lobes of one or both lungs.” Others have defined segmental PH more broadly as PH that does not follow a homogeneous distribution, with some parts of the pulmonary vasculature being exposed to higher pressures than others.3 This entity was included under the umbrella of World Heart Organization group 5 (PH caused by unclear or multifactorial mechanisms), because little is known about its pathophysiology and response to pulmonary arterial hypertension (PAH) therapies.1, 2 Segmental PH is most commonly encountered in patients with congenital heart disease (CHD) and carries notable similarities to PAH (Group 1.4.4, PAH associated with CHD) and group 4 of the PH classification (Group 4.2.4 PH in patients with congenital pulmonary artery [PA] stenoses), yet there is no systematic description of the broad spectrum of conditions encompassed by this entity or its distinct pathophysiological features and how these may affect management. We present herewith a consensus statement on segmental PH, including a working definition, range of conditions that may be classified under this entity, description of pathophysiology in terms of pulmonary vasculature, cardiovascular anatomy, and management principles.

Introduction : La tétralogie de Fallot (TF) est la cardiopathie congénitale la plus fréquente avec environ 1 nouveau-né tous les 2900 atteint. Grâce au développement de la chirurgie correctrice dans les années 50, l’espérance de vie des patients a beaucoup augmenté. Cependant, l’apparition de complications ou la persistance de séquelles est loin d’être rare. La plus fréquente d’entre elle est l’insuffisance pulmonaire (IP), pouvant conduire à la dilatation du ventricule droit (VD), à une dysfonction systolique et à des troubles du rythme, particulièrement ventriculaires. Objectifs : Le but de cette étude est de suivre l’évolution à court et moyen terme du volume du VD et de la fonction du VD après un remplacement de valve pulmonaire (RVP) dans une cohorte de patients adultes ayant bénéficié d’une opération correctrice de TF dans l’enfance. Méthode : Les sujets de cette étude ont été identifiés via la base de données du département de chirurgie cardiaque du Centre Hospitalier Universitaire Vaudois (CHUV). Les patients opérés entre le 1er août 2012 et 30 septembre 2016 ont été inclus. Les rapports opératoires et lettres de sorties ont été utilisés pour identifier les complications précoces. Les IRM pré et postopératoires ont été étudiées pour déterminer l’évolution des volumes télédiastoliques indexés du VD et de la fraction d’éjection du ventricule droit (FEVD). Résultats : 19 patients avec une TF corrigée ont bénéficié d’un RVP entre août 2012 et septembre 2016 par un seul opérateur (Prof. René Prêtre, CHUV). 17 remplacements de valve native et 2 changements de prothèse valvulaire ont été effectués sur 14 hommes et 5 femmes. Tous les patients avaient bénéficié d’un patch transannulaire lors de la correction initiale. L’âge moyen au moment du RVP était de 35 ans ± 11 ans. Une seule réopération précoce à J8 en raison d’un épanchement péricardique a été identifiée. A notre connaissance, aucun patient n’a bénéficié d’une réintervention sur la prothèse valvulaire. Sur les examens IRM effectués 20 ± 14 mois après le RVP, le volume télédiastolique indexé duVDestpasséde160±37ml/m2 à101±32ml/m2,p=0,00079. Conclusion : Le RVP permet la réduction significative du volume du VD chez les patients ayant bénéficié d’une opération correctrice pour une tétralogie de Fallot, avec un faible taux de réopération post- opératoire. Dans le futur, la modification des techniques opératoires tel que l’utilisation d’un abord transatrial au lieu d’une ventriculotomie ou l’utilisation limitée des patchs transannulaires devrait permettre de diminuer le nombre de cas d’insuffisance valvulaire pulmonaire.

Aims Sudden cardiac death (SCD) is a major cause of mortality in adults with congenital heart disease (CHD). Several risk factors for SCD including conduction disturbances and ventricular dysfunction have been described previously. However, electrocardiogram (ECG) and echocardiographic parameters may change over time, and the predictive value of such temporal changes, rather than their point estimates, for SCD remains unknown.Methods and results This was a retrospective case-control study in adults with CHD and proven or presumed SCD and matched controls. Data were obtained from three databases including 25 000 adults with CHD. Sequential measurements were performed on electrocardiograms and echocardiograms. Ventricular function was assessed by echocardiography and graded on a four-point ordinal scale: 1, normal [ejection fraction (EF) >= 50%]; 2, mildly impaired (EF 40-49%); 3, moderately impaired (EF 30-39%); and 4, severely impaired (EF, = 5 ms/year was associated with an increased risk of SCD [OR 1.9, 95% confidence interval (CI) 1.1-3.3, P = 0.013]. Change from any baseline systemic ventricular function (normal, mild, or moderately impaired) to severe ventricular dysfunction over time was associated with the highest risk of SCD (OR 16.9, 95% CI 1.8-120.1, P = 0.008).Conclusion In adults with CHD, QRS duration and ventricular dysfunction progress over time. Progression of QRS duration and the rate of impairment of ventricular function served to identify those at increased risk of SCD.

Background— Pulmonary insufficiency is the nexus of late morbidity and mortality after transannular patch repair of tetralogy of Fallot. This study aimed to establish the feasibility of implantation of the novel Medtronic Harmony transcatheter pulmonary valve (hTPV) and to assess its effect on pulmonary insufficiency and ventricular function in an ovine model of chronic postoperative pulmonary insufficiency. Methods and Results— Thirteen sheep underwent baseline cardiac magnetic resonance imaging, surgical pulmonary valvectomy, and transannular patch repair. One month after transannular patch repair, the hTPV was implanted, followed by serial magnetic resonance imaging and computed tomography imaging at 1, 5, and 8 month(s). hTPV implantation was successful in 11 animals (85%). There were 2 procedural deaths related to ventricular fibrillation. Seven animals survived the entire follow-up protocol, 5 with functioning hTPV devices. Two animals had occlusion of hTPV with aneurysm of main pulmonary artery. A strong decline in pulmonary regurgitant fraction was observed after hTPV implantation (40.5% versus 8.3%; P =0.011). Right ventricular end diastolic volume increased by 49.4% after transannular patch repair (62.3–93.1 mL/m 2 ; P =0.028) but was reversed to baseline values after hTPV implantation (to 65.1 mL/m 2 at 8 months, P =0.045). Both right ventricular ejection fraction and left ventricular ejection fraction were preserved after hTPV implantation. Conclusions— hTPV implantation is feasible, significantly reduces pulmonary regurgitant fraction, facilitates right ventricular volume improvements, and preserves biventricular function in an ovine model of chronic pulmonary insufficiency. This percutaneous strategy could potentially offer an alternative for standard surgical pulmonary valve replacement in dilated right ventricular outflow tracts, permitting lower risk, nonsurgical pulmonary valve replacement in previously prohibitive anatomies.

Contains fulltext : 51420.pdf (Publisher’s version ) (Closed access) AIMS: To investigate outcome and complications of implantable cardioverter defibrillators (ICDs) in adults with congenital heart disease (CHD) and to identify predictors of (in-) appropriate shocks. METHODS AND RESULTS: Sixty-four CHD patients >/= 18 years at first ICD implantation [63% tetralogy of Fallot (TOF) and age at implantation 37 +/- 13 years] were identified using the Dutch adult CHD registry and a Belgian tertiary care centre database. Median follow-up duration was 3.7 years. Early complications included pocket haematoma (n = 3), lead failure (n = 2), and pneumothorax (n = 2). Late complications occurred in 11 (17%) patients, including lead failure (n = 6) and and electrical storm (n = 3). Overall, 30 device-related re-interventions were performed in 20 patients (31%), including four premature generator changes and seven lead replacements. Half of the patients received one or more shocks, and 46 shocks in 15 patients (23%) were classified as appropriate. One hundred and sixty shocks in 26 patients (41%) were classified as inappropriate. No predictors of (in-)appropriate shocks were identified, except TOF being associated with less appropriate shocks than patients with other CHD (HR 0.29, P = 0.02). CONCLUSION: The ICD provided effective therapy in a quarter of adults with CHD with low complication rates. The incidence of inappropriate shocks, however, appeared to be excessive and warrants further attention.

International audience; BACKGROUND: Percutaneous pulmonary valve implantation (PPVI) using Melody valve made of bovine jugular vein is safe and effective. However, infective endocarditis has been reported for unclear reasons. We sought to assess the impact of valvular substrates on selective bacterial adhesion. METHODS: Three valved stents (Melody valve, homemade stents with bovine and porcine pericardium) were tested in-vitro for bacterial adhesion using Staphylococcus aureus and Streptococcus sanguinis strains. RESULTS: Bacterial adhesion was higher on bovine jugular venous wall for S. aureus and on Melody valvular leaflets for S. sanguinis in control groups and significantly increased in traumatized Melody valvular leaflets with both bacteria (traumatized vs non traumatized: p=0.05). Bacterial adhesion was lower on bovine pericardial leaflets. CONCLUSION: Selective adhesion of S. aureus and S. sanguinis pathogenic strains to Melody valve tissue was noted on healthy tissue and increased after implantation procedural steps.

OBJECTIVES: Treatment of pulmonary atresia with ventricular septal defect (PA + VSD) has evolved during recent decades, but it still remains challenging. This study evaluated 41-year experience of outcome, survival and treatment of PA + VSD patients. METHODS: Patient records and angiograms of 109 patients with PA + VSD born in Finland between 1970 and 2007, and treated at the Children's Hospital, Helsinki University Central Hospital, were retrospectively analysed in this nationwide study. RESULTS: Of the 109 patients, 66 (61%) had simple PA + VSD without major aortopulmonary collateral arteries (MAPCAs). Although we observed no difference in overall survival between those with or without MAPCAs, the patients without MAPCAs had better probability to achieve repair (64 vs 28%, P

Background— Adult congenital heart disease (ACHD) patients have ongoing morbidity and reduced long-term survival. Recently, the importance of specialized follow-up at tertiary ACHD centers has been highlighted. We aimed to assess survival prospects and clarify causes of death in a large cohort of patients at a single, tertiary center. Methods and Results— We included 6969 adult patients (age 29.9±15.4 years) under follow-up at our institution between 1991 and 2013. Causes of death were ascertained from official death certificates. Survival was compared with the expected survival in the general age- and sex-matched population, and standardized mortality rates were calculated. Over a median follow-up time of 9.1 years (interquartile range, 5.2–14.5), 524 patients died. Leading causes of death were chronic heart failure (42%), pneumonia (10%), sudden-cardiac death (7%), cancer (6%), and hemorrhage (5%), whereas perioperative mortality was comparatively low. Isolated simple defects exhibited mortality rates similar to those in the general population, whereas patients with Eisenmenger syndrome, complex congenital heart disease, and Fontan physiology had much poorer long-term survival ( P Conclusions— ACHD patients continue to be afflicted by increased mortality in comparision with the general population as they grow older. Highest mortality rates were observed among patients with complex ACHD, Fontan physiology, and Eisenmenger syndrome. Our data provide an overview over causes of mortality and especially the spectrum of noncardiac causes of death in contemporary ACHD patients.

Objective: To examine retrospectively the changes in ECG parameters over time and their correlation with other quantitative right ventricular (RV) function parameters in patients with chronic RV pressure overload caused by congenital heart disease.Methods: 48 patients with chronic RV pressure overload caused by the following congenital heart diseases were studied: nine with congenitally corrected transposition of the great arteries (TGA), 12 with surgically corrected TGA, and 27 with a subpulmonary pressure overloaded RV. QRS duration and dispersion were measured manually from standard ECG recorded twice within five years. RV end diastolic volume (EDV) and RV mass were determined by magnetic resonance imaging. Brain natriuretic peptide (BNP) plasma concentrations were measured.Results: QRS duration and QRS dispersion increased in all patient groups during the follow up period. QRS duration increased significantly in the congenitally corrected TGA (p = 0.04) and the subpulmonary pressure overloaded RV groups (p = 0.01). QRS dispersion increased significantly in patients with surgically corrected TGA (p = 0.03) and in the subpulmonary pressure overloaded RV group (p = 0.02). A significant correlation was found between QRS duration and RVEDV (r = 0.71, p Conclusions: ECG parameters worsened gradually in asymptomatic or minimally symptomatic patients with chronic RV pressure overload, regardless of the nature of their congenital heart disease. In all patients, a significant positive correlation was found between QRS duration and RVEDV. In patients with tetralogy of Fallot there was also a correlation between QRS duration and RV mass.

Objective: Life expectancy of patients with congenital heart disease has improved over the past decades, increasing the need for a durable pulmonary prosthetic valve. Biological valves in various forms have become the valve of choice for pulmonary valve replacement (PVR), but structural valve deterioration is unavoidable in the long term. Use of a mechanical valve could be an alternative, but data on long-term outcomes are sparse.Methods: We retrospectively collected and analyzed data on 364 patients with mechanical valves implanted in the pulmonary position between 1965 and 2014. The data originate from medical centers in Barcelona (Spain), Graz (Austria), Groningen (the Netherlands), Munich (Germany), Rochester (United States), Seoul (Republic of Korea), and Tehran (Iran).Results: Median follow-up duration was 4.26 years (range, 0-27 years), mean age at implantation was 27.16 +/- 12.2 years. Tetralogy of Fallot was the most common primary cardiac diagnosis, with a subgroup of 69.8%. Freedom from valvular thrombosis was 91% (95% confidence interval [CI], 87%-94%) at 5 years and 86% (95% CI, 81%-91%) at 10 years post-PVR. With a success rate up to 88%, thrombolysis was a successful therapy. Freedom from reoperation was 97% (95% CI, 94%-99%) at 5 years post-PVR and 91% (95% CI, 85%95%) at 10 years.Conclusions: Mechanical PVR is associated with a limited risk of valvular thrombosis. Thrombolysis was an effective treatment in the majority.

We present the case studies of two adult patients with tetralogy of Fallot who were scheduled for surgery. After addressing the right ventricular outflow tract obstruction, the aorta was opened and the ventricular septal defect was approached in a straightforward manner as it was located just under the overriding aortic valve. The second patient presented with was a situs inversus, dextroapex Fallot. In this setting, the aortic approach simplified the repair expeditiously. After 2 years, both patients are in New York Heart Association class I, with no residual ventricular septal defect, no aortic regurgitation, and complete relief of right ventricular outflow tract obstruction.

Background— The value of implantable cardioverter defibrillators (ICDs) in adults with congenital heart disease (CHD) is unknown. We investigated the long-term outcome after ICD implantation and developed a simple risk stratification score for ICD therapy. Methods and Results— A total of 136 adults with CHD and ICD (mean age±SD, 41±13 years; 67% male) were identified from 10 tertiary referral centers in the Netherlands and Belgium. The indication for ICD implantation was primary prevention in 50% of patients. Diagnoses included tetralogy of Fallot (51%), septal defects (20%), (congenitally corrected) transposition of the great arteries (13%), and other (16%). Thirty-nine patients (29%) received appropriate ICD shocks during a median follow-up of 4.6 years. Secondary prevention indication (hazard ratio [HR], 3.6; 95% CI, 1.3–9.5; P= 0.009), coronary artery disease (HR, 2.7; 95% CI, 1.0–7.2; P= 0.042), and symptomatic nonsustained ventricular tachycardia (NSVT; HR, 9.1; 95% CI, 2.8–29.2; P= 0.001) were associated with appropriate ICD shocks. A risk score was developed to evaluate the likelihood of appropriate ICD shocks. The 8-year survival curve to first appropriate shocks was 94%, 57%, and 26% for low-, intermediate-, and high-risk patients, respectively. In primary prevention, symptomatic NSVTs (HR, 8.0; 95% CI, 2.3–27.1; P= 0.001) and subpulmonary ventricular dysfunction (HR, 3.0; 95% CI, 1.2–12.6; P =0.02) were associated with appropriate shocks in univariable analysis. Inappropriate shocks occurred in 41 patients (30%). In addition, 40 patients (29%) experienced 45 implantation-related complications. Conclusions— Adults with CHD and ICDs receive high rates of appropriate and effective shocks. Patients with secondary prevention indication, coronary artery disease, and symptomatic NSVT are at highest risk of receiving appropriate ICD shocks. ICD implantation is accompanied by considerable morbidity, including inappropriate shocks and procedure- related complications.

Now that systemic-pulmonary collateral arteries are used for unifocalization in patients with pulmonary atresia and ventricular septal defect, the question arises whether morphologic criteria of these collateral arteries could help to provide better results. In an attempt to classify the morphologic features of systemic-pulmonary collateral arteries, we studied 31 heart-lung autopsy specimens with pulmonary atresia and ventricular septal defect. The course of the systemic-pulmonary collateral arteries (origin, branching pattern, and connections with systemic and central pulmonary arteries) was related to their histologic characteristics. The results show that systemic-pulmonary collateral arteries cannot be classified according to their course related to the trachea and the main branches of the bronchi. The histologic features of these collateral arteries vary along their course to the lungs. Nearly all systemic-pulmonary collateral arteries contain a muscular or a musculoelastic segment. One type of collateral artery (complex loop anastomoses) is completely muscular and resembles a bronchial artery. Nutritive branches (bronchial arteries) arise from all histologic types of systemic-pulmonary collateral artery segments. The size and number of intimal proliferations in muscular, elastic, and musculoelastic segments did not differ significantly. In 29 of 31 cases a ductus arteriosus did not coexist with large collateral arteries (two cases unknown). It is concluded that a classification of large systemic-pulmonary collateral arteries based on morphologic features results in a highly variable system, which does not facilitate decisions for the suitability of these arteries for unifocalization procedures. The variability of the systemic-pulmonary collateral arteries corresponds with the recent embryologic finding that during development, collateral artery formation is possible during extended periods.

Contains fulltext : 89235.pdf (Publisher’s version ) (Closed access) AIMS: Mortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear. METHODS AND RESULTS: The Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's regression was used to assess mortality predictors. Of 6933 patients, 197 (2.8%) died during a follow-up of 24 865 patient-years. Compared with the general national population, there was excess mortality, particularly in the young. Median age at death was 48.8 years. Of all deaths, 77% had a cardiovascular origin; 45% were due to chronic heart failure (26%, age 51.0 years) or sudden death (19%, age 39.1 years). Age predicted mortality, as did gender, severity of defect, number of interventions, and number of complications [hazard ratio (HR) range 1.1-5.9, P < 0.05]. Several complications predicted all-cause mortality beyond the effects of age, gender, and congenital heart disease severity, i.e. endocarditis, supraventricular arrhythmias, ventricular arrhythmias, conduction disturbances, myocardial infarction, and pulmonary hypertension (HR range 1.4-3.1, P < 0.05). These risks were similar in patients above and below 40 years of age. Almost all complications predicted death due to heart failure (HR range 2.0-5.1, P < 0.05); conduction disturbances and pulmonary hypertension predicted sudden death (HR range 2.0-4.7, P < 0.05). CONCLUSION: Mortality is increased in adults with congenital heart disease, particularly in the young. The vast majority die from cardiovascular causes. Mortality risk, particularly by heart failure, is increased by virtually all complications. Complications are equally hazardous in younger as in older patients. 01 mei 2010

La tetralogía de Fallot es la cardiopatía congénita cianótica más frecuente en la población general, con una incidencia general de 0,1/1.000 nacidos vivos. El eje morfológico diagnóstico es el desplazamiento anterior izquierdo del septo infundibular -hacia la vía de salida ventricular derecha- durante el periodo de embriogénesis, lo que causa complejo de cabalgamiento aórtico, comunicación interventricular, estenosis subpulmonar e hipertrofia ventricular derecha. Sin intervención quirúrgica, su sobrevida al año alcanza 66% y sólo 10% a 15% en más de veinte años. La presentación clínica es variable y depende del grado de estenosis pulmonar; cuando ya es significativa en la etapa neonatal o en lactantes menores de tres a seis meses, pueden aparecer crisis de hipoxemia que requieren intervención médica o quirúrgica de urgencia. La corrección completa de la malformación ofrece buenos resultados de supervivencia durante décadas, si bien con las primeras técnicas -parche trans-anular y cierre del defecto interventricular- surgen problemas a largo plazo que pueden generar un riesgo adicional de morbimortalidad. La insuficiencia pulmonar severa, la presencia de dilatación ventricular derecha y el desarrollo de arritmias potencialmente fatales son problemas que se tornan importantes y que deben reconocerse a fin de valorar una reintervención temprana y reparar los defectos residuales inductores de arritmia. Las nuevas técnicas quirúrgicas tratan de conservar al máximo la integridad de la unión ventrículo-pulmonar y de la propia válvula, siempre y cuando la anatomía lo permita. Ello redunda, sin duda, en beneficio para el paciente ya que los problemas residuales descritos tienen menor significado clínico. The tetralogy of Fallot is the most frequent cyanotic congenital heart disease in the general population with a general incidence of 0.1/1000 live births. The morphologic diagnostic axis is the left anterior displacement of the infundibular ventricular septum - towards the right ventricle way out- during the embryogenic period that causes aortic override, ventricular septal defect, subpulmonary stenosis and right ventricular hypertrophy. Without surgical intervention, survival is 66% in 1 year and only 10% to 15% in > 20 years. Clinical presentation is variable and depends on the grade of pulmonary stenosis; when it is already significant in the neonatal period or in infants < 3 to 6 months, hypoxemic crisis that may require urgent medical or surgical intervention may appear. Complete surgical correction of the malformation offers good survival outcomes during decades, although with the first techniques -trans-anular patch and closure of the interventricular defect- there appear long term problems that may generate an additional mobimortality risk. Severe pulmonary insufficiency, presence of right ventricular dilation and development of potentially fatal arrhythmias are problems that become important and must be recognized in order to assess an early re-intervention and to repair residual defects inductors of arrhythmia. The new surgical techniques try to preserve as much as possible ventricular-pulmonary joint and the valve itself, if anatomy allows it. That will without doubt benefit the patient because the residual problems described have lesser clinical significance.

Objective: Pulmonary valve replacement is performed increasingly late after correction of Tetralogy of Fallot. Most reports deal with pulmonary allografts as the valvar substitute of choice, although late deterioration and reoperation(s) are the rule. Mechanical valves are scarcely reported and if so only because of complications. Although life-tong anticoagulation therapy is indicated for mechanical prostheses, the chance of subsequent re-operations can be expected to be Low. We report the results of 28 mechanical valve replacements in the pulmonary position. Methods: A mechanical valve was implanted in 27 of 79 patients indicated for pulmonary valve replacement. Tetralogy of Fallot was the most common basic lesion. The results and follow-up were reviewed retrospectively, where death and re-operation were primary end points. Routine outpatient follow-up, including trans-thoracic echocardiography, was performed. Results: Twenty-eight pulmonary valve implantations were done in 27 patients. Thirty-day hospital mortality was 1/28 (3.6%), because of a cerebro-vascular accident. One patient died late (2.8 years postoperatively). Median age was 33 years and the median interval between primary repair and insertion of the prosthesis was 26 years. Freedom from re-operation at 1 year was 100%. One valve had to be replaced 14 years after implantation because of malfunction due to ingrowth of endomyocardial fibrosis. No thrombo-embolic events were observed. Conclusions: Our series do not confirm the bad reputation of mechanical valvar prostheses in the pulmonary position. On the contrary they perform well and result in a much lower re-operation rate than can be expected and in fact is reported after allograft usage. No thrombo-embolic complications were noted. In our experience pulmonary mechanical valve prostheses do well. (c) 2006 Elsevier B.V. All rights reserved.

Cardiologia CROATICA The major long-term complication of tetralogy of Fallot repair is pulmonary valve insufficiency, which leads to right heart failure. Other problems include atrial and ventricular arrhythmias and sudden cardiac death. We report a case of progressive pulmonary valve regurgitation late after tetralogy of Fallot correction. A 26-year old woman with history of Ductus Botalli closure and complete tetralogy of Fallot correction at the age of two, was evaluated for palpitation, intermittent leg edema, progressive exertion intolerance New York Heart Association (NYHA) functional class II/III and a syncope episode. On examination, sinus rhythm and a systolic and early diastolic murmur was noted at the high left sternal border and at the back. Electrocardiography shows right ventricular (RV) hypertrophy with a right bundle branch block. First transthoracic echocardiogram (TTE) showed right ventricle hypertrophy (Figure 1) and mild pulmonary valve regurgitation. The presence of Doppler flow turbulence and increased velocity jet in the left branch pulmonary artery was suggesting the stenosis. Magnetic resonance imaging (MRI) also showed right ventricular hypertrophy, mild pulmonary regurgitation and narrowing of the main pulmonary artery at branching (diameter 12 mm / 20 mm) suggesting mild stenosis. Cardiac catheterization confirmed the diagnosis of anomal coronary artery origin, all from the right coronary sinus. Left pulmonary artery stenosis with pressure gradient less than 20 mmHg was detected on right pulmonary angiography. A computed tomographic scan of thorax was further arranged to delineate the pulmonary artery anatomy; this confirmed mild left branch pulmonary artery narrowing. Perfusion lung scan ratio was 65% right to 35% left. In 6 months follow-up, progressive dyspnea and exercise intolerance occurred. Control TTE revealed significant impairment of pulmonary regurgitation (Figure 2). Stress TTE confirmed increase in pulmonary regurgitation while significant pulmonary transvalvular and peripheral pulmonary gradient remained the same. Patient was scheduled for surgery. At operation, the main left pulmonary artery was found to be kinked with adhesions. The annulus of the pulmonary valve was dilated and one of the cusps was completely destructed. Left pulmonary artery unkinking and pulmonary bioprosthetic valve replacement was done. Soon after operation the patient made an uneventful recovery. At her 6-month follow-up, she remains in NYHA functional class I with no symptoms, follow-up TTE revealed reversal remodeling of the RV, normal bioprosthetic function, transpulmonary and peripheral flow. Proπireni saaeetak / Extended abstract

Objective: To examine retrospectively the changes in ECG parameters over time and their correlation with other quantitative right ventricular (RV) function parameters in patients with chronic RV pressure overload caused by congenital heart disease. Methods: 48 patients with chronic RV pressure overload caused by the following congenital heart diseases were studied: nine with congenitally corrected transposition of the great arteries (TGA), 12 with surgically corrected TGA, and 27 with a subpulmonary pressure overloaded RV. QRS duration and dispersion were measured manually from standard ECG recorded twice within five years. RV end diastolic volume (EDV) and RV mass were determined by magnetic resonance imaging. Brain natriuretic peptide (BNP) plasma concentrations were measured. Results: QRS duration and QRS dispersion increased in all patient groups during the follow up period. QRS duration increased significantly in the congenitally corrected TGA (p = 0.04) and the subpulmonary pressure overloaded RV groups (p = 0.01). QRS dispersion increased significantly in patients with surgically corrected TGA (p = 0.03) and in the subpulmonary pressure overloaded RV group (p = 0.02). A significant correlation was found between QRS duration and RVEDV (r = 0.71, p