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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.

Background Marfan syndrome (MFS) is a connective tissue disorder characterized by mutations in the fibrillin-1 (FBN1) gene. The most important manifestation is progressive enlargement of the aorta, ultimately leading to aortic dissection or rupture. Present day pharmacological treatment is based on drugs that decrease repetitive stress on the aorta and improve elastic properties and transport function of the aorta. Unfortunately, this is not sufficient for most patients and surgical resection and reconstruction of the enlarged part of the aorta is still necessary. We have shown earlier that the food supplement Resveratrol inhibits aortic growth and promotes aortic repair in a murine MFS model. Resveratrol is a natural polyphenol commonly found in the skin of berries and in nuts. Here, we hypothesize that Resveratrol treatment will also be protective against aortic dilatation and functional deterioration in humans with MFS. Methods/Design The RESVcue Marfan study is an investigator-initiated, prospective, pre-post observational, multicenter trial. Four specialized academic centers in the Netherlands will recruit 100 patients with genetically confirmed MFS. Patients will use Resveratrol for one year, on top of their ongoing medicinal regime. The primary endpoints consist of the following two main parameters; 1) aortic aneurysm expansion rate and 2) improvement of aortic functional indices. All indices will be measured before and after treatment by echocardiography and (4D flow) MRI. The 4D flow MRI allows for analysis of blood flow patterns and quantification of stresses on the aortic wall, distensibility and pulse wave velocity. Blood and skin samples will be taken to assess the effect of Resveratrol on potential biomarkers associated with Resveratrol metabolism and changes in the primary endpoints. Three psychological tests (The Well-being questionnaire (SF-12), the Hospital Depression and Anxiety Scales (HADS) questionnaire and the Checklist Individual Strength (CIS)) will be taken by the MFS patients to assess the effect of Resveratrol on their well-being. Discussion The RESVcue Marfan trial may provide sufficient data on beneficial effects of Resveratrol on aortic aneurysm expansion rate, aortic functional properties, and biomarkers in patients with MFS to justify a future randomized trial in a larger cohort for a longer study period.Trial registration NL66127.018.18, approved on 24 September 2018. https://www.toetsingonline.nl/ Resveratrol as potential aortic growth inhibitor in patients with Marfan syndrome.

Heritable thoracic aortic disease (H-TAD) comprises a heterogeneous group of disorders with as a common denominator aortic aneurysm or dissection. Depending on the presence or absence of manifestations in other organ systems, H-TAD can be further subdivided into syndromic and nonsyndromic H-TAD. Pathogenic variants have been identified in numerous genes involved in structure and in maintenance of tissue homeostasis in the aortic wall. Identification of the underlying genetic defect is not only important for confirmation of the diagnosis but may also help in risk stratification and guidance of management—which will ultimately lead to more personalized medicine. A substantial proportion of (mainly nonsyndromic) families with H-TAD remains in whom the underlying gene defect has not been identified yet, and in these cases, clinical imaging of patients and relatives is the mainstay of follow-up.

Objective Adult congenital heart disease (ACHD) patients are at risk of sudden cardiac death (SCD). However, methods for risk stratification are not yet well‐defined. The Tpeak‐Tend (TpTe) interval, a measure of dispersion of ventricular repolarization, is a risk factor for SCD in non‐ACHD patients. We aim to evaluate whether TpTe can be used in risk stratification for SCD in ACHD patients. Design From an international multicenter cohort of 25 790 ACHD patients, we identified all SCD cases. Cases were matched to controls by age, gender, congenital defect, and (surgical) intervention. Outcome Measures TpTe was measured on a standard 12‐lead ECG. The maximum TpTe of all ECG leads (TpTe‐max), mean (TpTe‐mean), and TpTe dispersion (maximum minus minimum) were obtained. Odds ratios (OR) for SCD cases vs controls were calculated using conditional logistic regression analysis. Results ECGs were available for 147 cases (median age at death 33.5 years (quartiles 26.2, 48.7), 66% male) and 267 controls. The mean TpTe‐max was 97 ± 24 ms in cases vs 84 ± 17 ms in controls (P

Patients with grown-up congenital heart disease (GUCH) constitute an expanding population. This population presents in such a way that is different from children with congenital heart disease and from adults with acquired heart disease and therefore requires a specialized multidisciplinary care. In addition to a specialized GUCH cardiologist, imaging specialists, interventional cardiologists, and GUCH surgeons constitute the backbone of the GUCH Heart Team. The aim of this integrative care is to secure a good quality of social, practical, and private life of the patient and, at the same time, minimize the number of interventions in a lifetime.

Patients with grown-up congenital heart disease (GUCH) constitute an expanding population. This population presents in such a way that is different from children with congenital heart disease and from adults with acquired heart disease and therefore requires a specialized multidisciplinary care. In addition to a specialized GUCH cardiologist, imaging specialists, interventional cardiologists, and GUCH surgeons constitute the backbone of the GUCH Heart Team. The aim of this integrative care is to secure a good quality of social, practical, and private life of the patient and, at the same time, minimize the number of interventions in a lifetime.

Congenital heart disease (CHD) is a prevalent but heterogeneous substrate for infective endocarditis (IE). Risk depends on CHD type, repair status, and the presence of prosthetics. Overall, clinical presentation, diagnosis, microbiology, and treatment of CHD-associated IE do not differ from IE in general. However, right-sided infections are more frequent, and echocardiographic sensitivity may be reduced. IE should be suspected in all patients with CHD with ongoing fever or other suggestive symptoms. Care is best provided in specialized CHD centres. While treatment remains challenging, overall outcome of CHD-associated IE is relatively good. Primary prevention is important in this population, and the value of proper dental health and hygiene should be stressed in patient education.

Heritable thoracic aortic disease (H-TAD) comprises a heterogeneous group of disorders with as a common denominator aortic aneurysm or dissection on one or several levels from the aortic annulus till the diaphragm. Depending on the presence or absence of manifestations in other organ systems, H-TAD can be further subdivided into syndromic and nonsyndromic H-TAD (NS H-TAD). For both clinical entities, multiple underlying gene defects have been identified, although we must recognize that in a substantial number of patients and families no causal mutation has been identified, defining them as “Heritable” but strictly speaking not (yet) as “Genetic.”

Congenital heart disease (CHD) is a substrate for infective endocarditis (IE). With advancements in surgical care, the CHD population has expanded over the past decades, while use of prosthetic material provides additional IE targets. Studies on CHD-associated IE in the era of commonplace cardiac prosthetics are scarce. Right-sided IE is relatively common in CHD. Streptococcus and Staphylococcus species are the predominant causative agents. The threshold for suspecting IE should be low. Reduced sensitivity of echocardiography, especially in the setting of complex anatomy or prosthetics, may warrant use of alternative imaging modalities. While treatment remains challenging, the outcome of CHD-associated IE is relatively good. Prevention of IE in this population should focus on good dental health and hygiene.

Item does not contain fulltext OBJECTIVE: A high prevalence of migraine has been described in various forms of congenital heart disease, with and without shunt. In this study we investigated the prevalence of migraine in patients with Marfan syndrome (MFS). METHODS: All 457 adult patients with MFS from the participating centres and 194 controls received a validated questionnaire about headache. Migraine was diagnosed according to the International Headache Society criteria, by three independent neurologists, blinded to patient files. RESULTS: Response rate was 68% and 56% in Marfan patients and controls, respectively. Forty percent of the 309 responding MFS patients (mean age 40+/-14 years; 51% females) and 28% of the 102 controls (mean age 43+/-15 years; 58% females), suffered from migraine (p=0.03). The prevalence of migraine with aura (MA) was 22% in MFS patients and 14% in controls (p=0.06). We found MFS to be an independent risk factor for having overall migraine (OR 1.7; 95%CI 1.1-2.8), also after adjustment for age and gender (OR 1.9; 95%CI 1.1-3.1; p=0.02) and for MA after adjustment for gender (OR 2.0; 95%CI 1.1-3.7; p=0.04). In patient with MFS, previous aortic root surgery appeared to be an independent risk factor for having MA (OR 2.2; 95%CI; 1.2.-4.0, p=0.01) adjusted for gender. CONCLUSION: MFS is an independent risk factor for having overall migraine and MA. Moreover, we found that a history of aortic root surgery seems to be associated with an increased risk of MA.

This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and thyroid-related cardiac impairment in patients with Down syndrome will be discussed.

Vis JC, Thoonsen H, Duffels MG, de Bruin-Bon RA, Huisman SA, van Dijk AP, Hoendermis ES, Berger RM, Bouma BJ, Mulder BJ. Six-minute walk test in patients with Down syndrome: validity and reproducibility. Arch Phys Med Rehabil 2009;90:1423-7. Objectives: To examine the validity of the six-minute walk test (6MWT) as a tool to evaluate functional exercise performance in patients with Down syndrome (DS). Design: Comparison of the six-minute walk distance (6MWD) in 2 distinct groups of DS patients: with and without severe cardiac disease. To test reproducibility, a group of patients with DS performed the 6MWT twice. Setting: Tertiary referral centers for patients with congenital heart defects and outpatient clinics for people with intellectual disabilities. Participants: Adult patients with DS with (n=29) and without (n=52) severe cardiac disease categorized by cardiac echocardiography. Interventions: Not applicable. Main Outcome Measure: Distance walked on the 6MWT. Results: The mean 6MWD in the group with severe cardiac disease was 289 +/- 104m and in the group without severe cardiac disease 280 +/- 104m (P=.70). Older age, female sex, and severe level of intellectual disability were all found to be independently and significantly correlated with a lower 6MWD (r=.67, P

To evaluate differences in functional parameters and reproducibility between short axis and axial slice orientation in the quantitative evaluation of the systemic right ventricle by cardiovascular magnetic resonance.Cross-sectional evaluation comparing two methods (Bland-Altman).Tertiary care outpatients.Quantitative cardiovascular magnetic resonance evaluation using short axis or axial slice orientation.Intraobserver variance, interobserver variance and systematic differences in systemic right ventricular volumes, ejection fraction, and mass between both methods.Twenty-two patients (mean age 33 ± 7 years) with systemic right ventricle (three with congenitally corrected transposition of the great arteries and 19 with atrially switched transposition of the great arteries).Compared with short axis slices, analysis of axial slices resulted in higher end systolic volume (6.6%, P.01), while mass (-10.8%, P.01) and ejection fraction (-8.9%, P.01) turned out lower. Intraobserver and interobserver reproducibility were similar for both methods when measuring end-diastolic and end-systolic volumes. However, ejection fraction and stroke volume were measured more consistently in axial orientation, while ventricular mass was measured more consistently in short axis orientation.There are significant differences in volume, mass, and function between measurements in axial and short axis orientation. Ejection fraction and stroke volume, which have a high clinical relevance, were measured more consistently in axial slice orientation. Consequently, we recommend using axial slice orientation in patients with a systemic right ventricle.

To assess the reproducibility of aortic volume estimates and to serially test their use in patients with Marfan syndrome.The study was approved by the medical ethics committee and all subjects gave written informed consent. In 81 patients with Marfan syndrome and seven healthy control subjects, aortic volumes and diameters at baseline were estimated by means of contrast material-enhanced magnetic resonance (MR) imaging. At 3 years of follow-up, aortic expansion rate were calculated in a subgroup of 22 patients with Marfan syndrome. Total aortic volume was defined as volume measurement from the level of the aortic annulus to the aortic bifurcation. Intra- and interobserver agreement of aortic volume were calculated by using the intraclass correlation coefficient. Differences in variables were analyzed with the Student t test and logistic regression. Effect size was calculated.Intra- and interobserver agreement of aortic volume calculation was 0.996 and 0.980, respectively. Mean aortic volume was significantly greater in patients with Marfan syndrome than in control subjects (104 mL/m(2); 95% confidence interval [CI]: 95, 114 mL/m(2) vs 74 mL/m(2); 95% CI: 62, 87 mL/m(2); P.001). In 22 patients with Marfan syndrome, mean aortic volume was increased at 3 years of follow-up (17 mL; 95% CI: 8, 26 mL; P = .001; effect size, 0.29), while mean aortic diameter did not increase significantly (0.4 mm; 95% CI: 0.0, 0.9 mm; P = .171; effect size, 0.13).Assessment of aortic volume is highly reproducible and may be suited for use in the detection of aortic expansion in patients with Marfan syndrome.http://radiology.rsna.org/lookup/suppl/doi:10.1148/radiol.13122310/-/DC1.

Left ventricular noncompaction (LVNC) is a relatively common genetic cardiomyopathy, characterized by prominent trabeculations with deep intertrabecular recesses in mainly the left ventricle. Although LVNC often occurs in an isolated entity, it may also be present in various types of congenital heart disease (CHD). The most prevalent CHD in LVNC is Ebstein anomaly, which is a rare form of CHD characterized by apical displacement and partial fusion of the septal and posterior leaflet of the tricuspid valve with the ventricular septum. Several reports of sporadic as well as familial cases of Ebstein anomaly associated with LVNC have been reported. Recent studies identified mutations in the MYH7 gene, encoding the sarcomeric β-myosin heavy chain protein, in patients harboring this specific phenotype. Here, we will review the association between Ebstein anomaly, LVNC and mutations in MYH7, which seems to represent a subtype of Ebstein anomaly with autosomal dominant inheritance and variable penetrance.

The study objectives were to analyze sex differences in hospital mortality of adult patients with congenital heart disease (CHD) and to determine the impact of health services associated with pregnancy on outcomes in women.The determinants of sex differences in the demographic distribution of CHD are poorly understood.The Quebec CHD database and the Dutch CONCOR (CONgenital CORvitia) registry were used to identify patients with CHD aged 18 to 65 years who were hospitalized between 1996 and 2005. Regression analyses were used to compare 30-day in-hospital mortality in men versus women and in women aged 18 to 45 years with versus without a pregnancy history, after adjustment for age, CHD severity, comorbidities, and admission diagnosis.Of 39,776 patients followed for 259,741 patient years, 19,099 patients (48%) had 54,195 admissions (62% among women). In those aged 18 to 45 years, 30-day in-hospital mortality was higher in men compared with women with nonpregnancy admissions (adjusted rate ratio: 1.36; 95% confidence interval: 1.02 to 1.81). The adjusted rate ratio for 30-day in-hospital mortality in women with a pregnancy history compared with those without was 0.49 (95% confidence interval: 0.24 to 0.99). A history of pregnancy was not associated with an overall increase in medical encounters.We demonstrated a protective effect of sex on in-hospital mortality in women with CHD of reproductive age that did not correlate with increased medical surveillance. Future studies need to explore other mechanisms to account for our observations. Understanding the determinants of the sex distribution of adults with CHD is important for our ability to predict demographic changes in the population with CHD.

Van alle AHA bestaat 5-10% uit een PDB . Op volwassen leeftijd is het tegenwoordig een zeldzame afwijking, omdat deze bij de meeste patienten op kinderleeftijd herkend wordt en de PDB meestal wordt gesloten. Er zijn echter patienten bij wie de diagnose pas op volwassen leeftijd toevallig of door het ontstaan van klachten wordt gesteld.

Het ASD is de meest voorkomende AHA op volwassen leeftijd. Het wordt bovendien vaak laat ontdekt, omdat een ASD gedurende de kinderleeftijd in veel gevallen geen klachten of symptomen veroorzaakt. Het relatief zachte ejectiegeruis over de pulmonalisklep wordt bij kinderen vaak niet gehoord of als onschuldig fysiologisch geruis geduid. Op volwassen leeftijd kunnen complicaties, zoals ritmestoornissen of een paradoxe embolie , maar ook een routinematig cardiaal onderzoek de diagnose aan het licht brengen. Voor een deel omdat een ASD vaak pas op volwassen leeftijd ontdekt wordt, maar ook omdat de prevalentie van andere AHA afneemt op oudere leeftijd (door overlijden, spontaan sluiten van een VSD), is de prevalentie van een ASD bij volwassenen hoger dan bij kinderen. In de landelijke registratie van patienten met een AHA (CONCOR) in Nederland heeft 16% van alle geincludeerde volwassen patienten een ASD.

Pulmonary arterial hypertension due to congenital heart disease (CHD-PAH) has a poor prognosis. We sought to determine whether the biomarker high-sensitivity troponin T (hsTnT) measured on routine visit at the outpatient clinic is associated with prognosis.Consecutive adult CHD-PAH (86% Eisenmenger syndrome) patients referred for advanced medical therapy between January 2005 and March 2007 in the Academic Medical Center in Amsterdam. Patients with severe renal impairment were excluded.The primary outcome was mortality.Of all 31 patients (mean age 45 ± 12 years) with CHD-PAH, eight patients died during a median follow-up of 5.6 (range 1.6 to 6.8) years. A hsTnT level0.014 μg/L was the 99th percentile cutoff of the normal distribution and therefore defined as elevated. At baseline, elevated levels of hsTnT were found in eight patients (26%). In univariate Cox regression, hsTnT elevated at baseline, NT-pro-BNP and right ventricular function were determinants of death (P.05 for all). Patients with elevated levels of hsTnT showed a significantly higher mortality rate as compared to patients with normal hsTnT levels (62% vs. 13%, P = .005).Levels of hsTnT were abnormal in a substantial proportion of CHD-PAH patients. A significant inverse relationship was found between hsTnT and survival.

In the most common form of ToF – a combination of a large, unrestrictive ventricular septal defect (VSD), an overriding aorta and a severe right ventricular outflow tract obstruction (RVOTO) – the prenatal loading conditions are similar to that of the normal heart, but from birth the right ventricle (RV) has abnormal loading conditions.

A first step in the delivery of tailored care is answering the following question: does health care meet the needs of patients? Therefore patients' perspective on health care use and their needs was examined. The design used was cross-sectional questionnaire study.A total of 1109 adult congenital heart defect (CHD) patients attending one of eight Dutch hospitals were randomly selected from a national database (10% of all registered patients).Patient reported questionnaires on in- and outpatient health care use during the past year and need for additional care.A total of 66% and 40% of patients had contact with their cardiologist and general practitioner, respectively. Six to 10 percent were hospitalized, operated upon, or visited the emergency room. For the majority, the amount of contact was sufficient. Most patients indicated that the communication skills and expertise of the cardiologist and general practitioner were sufficient, and health care improvements were not necessary. Frequent health care users had a poor functional status and frequent contact with their cardiologist and general practitioner. Patients who want more contact with their cardiologist rated the communication skills of the cardiologist as insufficient.For most patients, the amount and quality of care are both sufficient. Patients who rate the communication skills of the cardiologist as insufficient have need more contact. In addition to the recommended training program as described in the American College of Cardiology/American Heart Association (ACC/AHA) and European Society of Cardiology (ESC) guidelines, we recommend the incorporation of communication training. This is the first study to provide insight into health care use and needs of CHD patients in countries with a compulsory health insurance system from the patient perspective.

Background— Ebstein anomaly is a rare congenital heart malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An association between Ebstein anomaly with left ventricular noncompaction (LVNC) and mutations in MYH7 encoding β-myosin heavy chain has been shown; in this report, we have screened for MYH7 mutations in a cohort of probands with Ebstein anomaly in a large population-based study. Methods and Results— Mutational analysis in a cohort of 141 unrelated probands with Ebstein anomaly was performed by next-generation sequencing and direct DNA sequencing of MYH7 . Heterozygous mutations were identified in 8 of 141 samples (6%). Seven distinct mutations were found; 5 were novel and 2 were known to cause hypertrophic cardiomyopathy. All mutations except for 1 3-bp deletion were missense mutations; 1 was a de novo change. Mutation-positive probands and family members showed various congenital heart malformations as well as LVNC. Among 8 mutation-positive probands, 6 had LVNC, whereas among 133 mutation-negative probands, none had LVNC. The frequency of MYH7 mutations was significantly different between probands with and without LVNC accompanying Ebstein anomaly ( P MYH7 mutation in the pedigrees of 3 of the probands, 1 of which also included another individual with Ebstein anomaly. Conclusions— Ebstein anomaly is a congenital heart malformation that is associated with mutations in MYH7 . MYH7 mutations are predominantly found in Ebstein anomaly associated with LVNC and may warrant genetic testing and family evaluation in this subset of patients.

Ventricular systolic and diastolic function, as measured by echocardiography, are diminished in patients with a systemic right ventricle (RV). As the clinical implications of these finding remained unknown, we aimed to identify echocardiographic parameters of systolic and diastolic ventricular function that are independent determinants of the clinical condition in these patients.Forty-six adult patients (61% male; mean age 33 [range 18-69] years) with a systemic RV underwent echocardiography to assess qualitative and quantitative systolic and diastolic function of the systemic RV and the subpulmonary left ventricle (LV). Uni- and multivariate linear regression analyses were performed to identify independent echocardiographic determinants for NYHA class, maximal exercise capacity (V'O(2peak)) and NT-proBNP levels.We found qualitative assessment of RV and LV function to be significantly associated with NYHA class (RV: β= 0.26; P = 0.05 and LV: β= 0.82; P0.01), V'O(2peak) (RV: β=-10.4; P0.05 and LV: β=-18.4; P0.05) and NT-proBNP levels (RV: β= 0.58; P0.01 and LV: β= 1.40; P0.001). Tricuspid annulus plane systolic excursion (TAPSE) was significantly associated with NYHA class (β=-0.92; P = 0.001), V'O(2peak) (β= 18.5; P = 0.05), and serum NT-proBNP levels (β=-1.00; P0.05). Associations between quantitative parameters of systolic subpulmonary LV function and clinical parameters were less distinct. We found no associations between RV and LV diastolic function and clinical parameters.Qualitative function of the systemic RV and the subpulmonary LV, and TAPSE, are determinants of clinical condition in patients with a systemic RV. These patients' clinical condition could not be determined by echocardiographically measured diastolic RV function, and systolic and diastolic LV function.

The aim of this study was to analyze whether QRS duration, before and after pulmonary valve replacement (PVR), is related to long-term outcome in patients with tetralogy of Fallot (TOF).Key factors that determine outcome after PVR in adult TOF patients are largely unknown. Recognition of such factors assists the identification of patients at increased risk of adverse events.Adults who previously underwent total correction for TOF (n=90; age 31.4±10.3 years) and required PVR for pulmonary regurgitation were included. The QRS duration was measured pre-operatively and 6 months after PVR. The post-operative changes in QRS duration were calculated. Adverse events (death, re-PVR, ventricular tachycardia, and symptomatic heart failure) were noted during follow-up.During 5.5±3.5 years of follow-up, 13 adverse events occurred. The 5-year event-free survival rate was 76% for patients with a pre-operative QRS duration180 ms and 90% in patients with a QRS duration≤180 ms (p=0.037). For patients with a post-operative QRS duration180 ms, 5-year event-free survival was 71%, whereas it was 91% for patients with a post-operative QRS duration≤180 ms (p=0.004). After multivariate correction, a post-operative QRS duration180 ms (hazard ratio: 3.685, 95% confidence interval: 1.104 to 12.304, p0.05) and the absence of a reduction in QRS duration post-PVR (hazard ratio: 6.767, 95% confidence interval: 1.704 to 26.878, p0.01), was significantly associated with adverse outcome.Severe QRS prolongation, before or after PVR, and the absence of a reduction in QRS duration after PVR, are major determinants of adverse outcome during long-term follow-up of patients with TOF.

Pulmonary regurgitation is the most important residual lesion after initial surgical correction for pulmonary (sub)valvular stenosis in the early life of patients with tetralogy of Fallot or isolated pulmonary stenosis. Symptomatic or asymptomatic patients with severe right ventricular dilatation due to pulmonary regurgitation may benefit from pulmonary valve replacement. Surgery is ideally performed before the right ventricle becomes irreversibly damaged as a result of longstanding volume overload. However, the beneficial effects must be weighed up against the problems associated with degradation of the allograft, which often result in (numerous) reoperations. Owing to the higher risk of thromboembolic events in mechanical prosthesis and the lifetime need for anticoagulation, allografts are the most widely used prosthesis. Degradation of the allograft often leads to reoperation, mostly 10-20 years after initial implantation. For a patient receiving his first allograft at 20 years of age, several reoperations will have to be performed later in life. Percutaneous pulmonary valve implantation has the potential to decrease the number of surgical reoperations.

Contains fulltext : 81680.pdf (Publisher’s version ) (Closed access) We report two families in which the probands have compound-heterozygous Marfan syndrome (MFS). The proband of family 1 has the R2726W FBN1 mutation associated with isolated skeletal features on one allele and a pathogenic FBN1 mutation on the other allele. The phenotype of the compound-heterozygous probands appears to be more severe than that of their heterozygous family members which underlines the possibility that certain trans-located FBN1 mutations might act as modifiers of phenotype explaining some of the intrafamilial variability in Marfan syndrome.

Background: Previous studies have shown that patients with congenital heart disease (ConHD) report a diminished health-related quality of life. Purpose: This study examines the mechanisms by which ConHD affects health-related quality of life. We hypothesize that (1) the relation between trait anxiety and quality of life is mediated by a negative interpretation bias for heart sensations, specifically in ConHD, and that (2) the relation between trait anxiety, and interpretation bias is mediated by state anxiety. Method: Sixty-six patients with ConHD and 50 healthy participants read a vignette about a person experiencing ambiguous heart-related sensations. Interpretation bias to these sensations was assessed with the Implicit Models of Illness Questionnaire. Participants completed Spielberger trait and state anxiety questionnaires and the physical subscales of a quality-of-life questionnaire. Results: Path-analysis demonstrated that interpretation bias mediated the relation between trait anxiety and daily functioning. However, trait anxiety and interpretation bias were less influential with respect to gross motor functioning. Moreover, state anxiety mediated the relation between trait anxiety and interpretation bias. Conclusion: These results suggest that patients with ConHD who display both elevated levels of trait and state anxiety exhibit the most pronounced negative interpretation bias for heart sensations and in turn diminished daily functioning.

To delineate the risk factors for rupture of congenital aneurysmal fistulas in adult patients.We conducted a literature search of the Medline database using Pubmed search interface to identify reports dealing with rupture of congenital aneurysmal fistulas in an adult population. The search included the English and non-English languages between 1963 and 2005.Fourteen adult patients (12 females) with serious and life-threatening complications secondary to aneurysmal fistulas were reported. Mean age was 62.9 years. The ethnic origins of these 14 patients were 9 Asian and 5 Caucasian. Most patients have had no other cardiac malformations. Five patients had a history of hypertension. One patient was asymptomatic. In 13 symptomatic patients, the clinical presentation was cardiac tamponade, pericardial effusion, syncope, heart failure, chest pain, dyspnea, fatigue, distal thromboembolic events with infarction, shock, and/or sudden death. Aneurysmal fistulas were identified in 10 patients; of these 6 were of the saccular type. Rupture occurred in 9 patients (8 females and 1 male). Eleven patients were treated surgically with 1 late death. Two male subjects experienced sudden unexpected cardiac death.Rupture of congenital aneurysmal fistulas occurred more often in females. Identified risk factors for rupture, hemopericardium, tamponade, and death were among others saccular aneurysm, Asian ethnic race, origin of the aneurysmal fistulas from the left coronary artery and a history of hypertension may play a role. In this article, we present a literature review of congenital aneurysmal fistulas associated with or without rupture and a case report of a woman with unruptured aneurysmal fistula.

A search of peer-reviewed literature was conducted to identify reports that provide data on complications associated with pregnancy in women with structural congenital heart disease (CHD). This review describes the outcome of 2,491 pregnancies, including 377 miscarriages (15%) and 114 elective abortions (5%). Important cardiac complications were seen in 11% of the pregnancies. Obstetric complications do not appear to be more prevalent. In complex CHD, premature delivery rates are high, and more children are small for gestational age. The offspring mortality was high throughout the spectrum and was related to the relatively high rate of premature delivery and recurrence of CHD.

Contains fulltext : 71123.pdf (Publisher’s version ) (Closed access) BACKGROUND: Pregnancy in women with congenital aortic stenosis (AS) is associated with increased cardiac complications. Data on non-cardiac complications are limited, and this information is crucial for prenatal counselling and perinatal care. The aim of this study was to present the maternal and perinatal outcome of pregnancy in women with congenital AS. METHODS: By review of the Dutch CONCOR national registry and a local Belgian tertiary care centre database, 35 women with congenital AS with a history of completed pregnancy before aortic valve replacement were enrolled in this study. Medical history and maternal and perinatal outcome were determined. RESULTS: Thirty-five women had 58 pregnancies resulting in 53 successful pregnancies, three miscarriages, and two abortions. The most serious cardiac complications were heart failure (n=2, 3.8%) and atrial arrhythmia (n=3, 5.7%). Although cardiac complications were present (9.4%), obstetric (22.6%) and perinatal (24.5%) complications were observed more often. A total of six pregnancies (11.3%) were complicated by hypertension-related disorders, including one case of eclampsia. Furthermore, 7 premature births (13.2%) and 7 small-for-gestational-age births (13.2%) were encountered. Pregnancy in women with severe AS was characterized by an increased incidence of heart failure and premature labour, and shorter pregnancy duration. Older women (>30 years) were at increased risk of perinatal events (odds ratio 4.38, 95% confidence interval 1.02 to 18.81). CONCLUSIONS: Pregnancy is generally well tolerated in women with congenital AS. Importantly, an excess of obstetric and perinatal complications was found, requiring more meticulous attention.

PURPOSE: To evaluate retrospectively the presence of fibrosis and largest diameter of the right ventricular outflow tract (RVOT) by using delayed enhancement magnetic resonance (MR) imaging in patients who had undergone initial correction for tetralogy of Fallot. MATERIALS AND METHODS: MR imaging was performed in 24 consecutive patients (16 male, eight female; mean age, 25 years; age range, 13-47 years) with corrected tetralogy of Fallot. The study protocol was approved by the local ethics committee, and informed consent was not required. Fifteen minutes after injection of 0.2 mmol/kg gadopentetate dimeglumine, an inversion-recovery turbo field-echo sequence was applied for detection of delayed enhancement. Right ventricular volumes, ejection fraction, and anterior-posterior diameter of the RVOT were calculated. Mann-Whitney nonparametric testing was used to compare measurements of ventricular volume, function, and anterior-posterior diameter of the RVOT in the presence or absence of delayed enhancement. Correlation was tested with Pearson coefficient. RESULTS: Delayed enhancement was seen in 17 patients in the RVOT. During initial surgery, transannular patching was performed in 13 (76%) of 17 patients, RVOT patching in one (6%) of 17 patients, and the Brock procedure in two (12%) of 17 patients. In one patient, the type of initial RVOT repair was unknown. Patients with delayed enhancement in the RVOT, as compared with those without delayed enhancement in the RVOT, had increased RVOT diameter (32 mm +/- 7 [standard deviation] vs 22 mm +/- 3, P < .01), decreased right ventricular ejection fraction (43% +/- 6.3 vs 54% +/- 10, P < .001), and increased end-diastolic volume (175 mL/m2 +/- 42 vs 118 mL/m2 +/- 34, P < .01). The diameter of the RVOT correlated with increased right ventricular end-systolic volume (R = 0.86) and was inversely related to ejection fraction (R = -0.65). CONCLUSION: Delayed enhancement occurs frequently in patients after correction for tetralogy of Fallot. Delayed enhancement in the RVOT was associated with RVOT dilatation, which adversely affects right ventricular hemodynamics

Introduction: Survival of patients with congenital heart disease has dramatically improved after surgical repair became available 40 years ago. Instead of a mortality of 85% during childhood following the natural course, over 85% of these infants are now expected to reach adulthood. However, data on long-term outcome is scarce due to the lack of large, national registries. Moreover, little is known about the genetic basis of congenital heart defects. In 2000, the Interuniversity Cardiology Institute of the Netherlands and the Netherlands Heart Foundation have taken the initiative to develop a national registry and DNA-bank of patients with congenital heart disease in the Netherlands named CONCOR. Objectives: The aims of the CONCOR project are to facilitate investigation of the prevalence and long-term outcome of specific congenital heart defects and their treatment, to develop an efficient organisational structure for the improvement of healthcare for patients with congenital heart disease, and to allow investigation of the molecular basis of congenital heart defects. Methods: After informed consent, research nurses enter data of participating patients into the CONCOR database using a web application. Data is transferred over the Internet via a secure connection. About 20 ml blood is withdrawn from the patient, and the DNA is isolated and stored. From each participating patient family history on congenital heart disease is obtained. Results: Within two and a half years more than 4200 patients have agreed to participate. More than 99% of the patients that were asked have given their consent to participate in CONCOR. From 60% of these patients DNA has already been obtained. Mean age of the patients included is 34 years; more than 85% of the patients are younger than 45 years. Late complications occur frequently and the incidence increases with advancing age. 18% of the patients are known with supraventricular or ventricular arrhythmias. 2% of the included patients suffered a cerebrovascular accident, 139 (3%) had endocarditis. 6% of the patients has pulmonary hypertension or Eisenmenger syndrome. More than 15% of the patients reported an affected family member with congenital heart disease in the first, second, or third degree. 6% has an affected first-degree relative, and 4% a second-degree relative. Already 10 research projects have started using the CONCOR data and DNA. Conclusion: The population of patients with congenital heart disease is young and rapidly growing. Late complications occur frequently and the incidence increases with advances age. The CONCOR registry and DNA-bank facilitates research on prevalence and long-term outcome and allows investigation of the molecular basis of congenital heart disease

Right ventricular function is of great importance in patients with both acute and chronic ventricular overload. The early detection of right ventricular dysfunction may have an impact on therapeutic decision making, helping to prevent or further delay functional deterioration of the right ventricle. In patients with right ventricular overload due to congenital cardiac diseases, dobutamine stress testing combined with magnetic resonance imaging, electrocardiographic changes, and monitoring of concentrations of plasma brain natriuretic peptide are very suitable parameters for the early detection of ventricular dysfunction, and should therefore be used in the follow-up of these patients. It is apparent that no single measurement of anatomy or function can ever adequately describe the form or performance of the right ventricle. Rather, we should be looking more towards an integrated approach of different parameters for right ventricular function. The quantitative parameters described in this study can serve this purpose. The strong correlation found between these non-invasive and independent parameters encourages their clinical implementation.

To the Editor: In their review of valvular heart disease in pregnancy, Reimold and Rutherford (July 3 issue)1 do not address the early puerperium. In our opinion, this period may be crucial. Many c...