Search

Aims. To delineate the risk factors for rupture of congenital aneurysmal fistulas in adult patients. Methods. 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. Results. 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. Conclusion. 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.

Objectives: To investigate outcome of pregnancy and fertility in women with double outlet right ventricle (DORV). Methods: Using 2 congenital heart disease registries, 21 female patients with DORV (aged 18–39 years) were retrospectively identified. Detailed recordings of each patient and their completed (>20 weeks gestation) pregnancies were recorded. Results: Overall, 10 patients had 19 pregnancies, including 3 spontaneous miscarriages (16%). During the 16 live birth pregnancies, primarily (serious) noncardiac complications were observed, e.g. premature labor/delivery (n = 7 and n = 3, respectively), small for gestational age (n = 4), preeclampsia (n = 2) and recurrence of congenital heart disease (n = 2). Except for postpartum endocarditis and deterioration of subpulmonary obstruction, only mild cardiac complication pregnancies were recorded. Two women with children reported secondary female infertility. Several menstrual cycle disorders were reported: secondary amenorrhea (n = 4), primary amenorrhea (n = 3) and oligomenorrhea (n = 2). Conclusion: Successful pregnancy in women with DORV is possible. Primarily noncardiac complications were observed and only few (minor) cardiac complications. Infertility and menstrual cycle disorders appear to be more prevalent.

The present study was aimed at clarifying whether preattentive processing of heart cues results in biased perception of heart sensations in patients with congenital heart disease (ConHD) who are also highly trait anxious. Twenty-six patients with ConHD and 22 healthy participants categorized heart-related (heart rate) or neutral sensations (constant vibration) as either heart or neutral. Both sensations were evoked using a bass speaker that was attached on the chest of the participant. Before each physical sensation, a subliminal heart-related or neutral prime was presented. Biased perception of heart-sensations would become evident by a delayed categorization of the heart-related sensations. In line with the prediction, a combination of high trait anxiety and ConHD resulted in slower responses after a heart-related sensation that was preceded by a subliminal heart cue. Preattentive processing of harmless heart cues may easily elicit overperception of heart symptoms in highly trait anxious patients with ConHD.

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.

Background: Evaluation of the combined utility of brain natriuretic peptide (BNP) and cardiac troponin T (cTnT) for risk stratification in normotensive patients with acute pulmonary embolism. The changing patterns of BNP and cTnT levels during the initial management of pulmonary embolism and their correlation with clinical outcome were the focus of this study.Methods: BNP and cTnT levels were measured in 28 consecutive normotensive on admission patients (age 53 18 years) with acute pulmonary embolism. Twenty-seven healthy age-matched volunteers served as controls (age 42 12 years). Blood samples from all patients were obtained during the first hour of presentation. Follow-up blood samples were acquired after 90 days.Results: Six patients (2%) had increased BNP (59 +/- 30 pmol/L) and cTnT (0.044 +/- 0.025 ng/mL) and RV dysfunction as diagnosed by echocardiography. Two of these patients died during follow-up as a consequence of RV failure due to pulmonary embolism. Eight patients (29%) had increased BNP (40.6 +/- 32.6 pmol/L) and normal cTnT at presentation. In four of these patients BNP levels remained increased after treatment (46.9 +/- 21.0 pmol/L). During follow-up these patients were diagnosed with chronic PE and RV pressure overload (RVSP > 40 min Hg). Fourteen patients (50%) with confirmed pulmonary embolism had normal BNP and cTnT levels at presentation, which remained normal during follow-up. These 14 patients were in good clinical condition during follow-up.Conclusions: Combined use of BNP and cTnT may be useful in risk stratification of normotensive patients with acute pulmonary embolism. Patients with increased BNP and cTnT are at risk for adverse outcome. Future studies in larger numbers of patients are needed to confirm the usefulness of biomarkers in the clinical management of individual patients. (c) 2006 Elsevier Ireland Ltd. All rights reserved.

Background The aim of the present study is to clarify whether biased symptom perception towards heart symptoms may explain a reduced quality of life in patients with congenital heart disease (ConHD). The present study tested the hypothesis that the combination of ConHD and high trait anxiety increases the perception of heart symptoms during acute stress. Methods 25 patients and 24 healthy participants completed a stressful computer task. Participant's heart and non-heart symptoms were measured after stress and after relaxation. Heart rate, blood pressure, respiratory rate, and arterial partial pressure of CO 2 were monitored continuously. Results In line with the prediction, a combination of high trait anxiety and ConHD resulted in an increased perception of specifically heart symptoms during stress. Moreover, the increased perception of heart symptoms could not be explained by acute heart dysfunction. Conclusions Heart dysfunction is not the only cause of an increased perception of heart symptoms. A history of disease experience in combination with high trait anxiety may increase the perception of heart symptoms during stress and may eventually result in an increased risk of developing a reduced quality of life.

AIM: To investigate the role of pulmonary arterial hypertension (PAH) in adult patients born with a cardiac septal defect, by assessing its prevalence and its relation with patient characteristics and outcome. METHODS AND RESULTS: From the database of the Euro Heart Survey on adult congenital heart disease (a retrospective cohort study with a 5-year follow-up), the relevant data on all 1877 patients with an atrial septal defect (ASD), a ventricular septal defect (VSD), or a cyanotic defect were analysed. Most patients (83%) attended a specialised centre. There were 896 patients with an ASD (377 closed, 504 open without and 15 with Eisenmenger's syndrome), 710 with a VSD (275, 352 and 83, respectively), 133 with Eisenmenger's syndrome owing to another defect and 138 remaining patients with cyanosis. PAH was present in 531 (28%) patients, or in 34% of patients with an open ASD and 28% of patients with an open VSD, and 12% and 13% of patients with a closed defect, respectively. Mortality was highest in patients with Eisenmenger's syndrome (20.6%). In case of an open defect, PAH entailed an eightfold increased probability of functional limitations (New York Heart Association class >1), with a further sixfold increase when Eisenmenger's syndrome was present. Also, in patients with persisting PAH despite defect closure, functional limitations were more common. In patients with ASD, the prevalence of right ventricular dysfunction increased with systolic pulmonary artery pressure (OR = 1.073 per mm Hg; p

Item does not contain fulltext BACKGROUND: In patients with repaired tetralogy of Fallot (rTOF), multiple reoperations or percutaneous interventions after pulmonary valve replacement (PVR) may be necessary due to limited homograft durability. However, data to guide individualised prediction of homograft durability remain scarce. The aim of this study was to provide risk models for RV to pulmonary artery homograft durability. METHODS: This retrospective multicentre study included consecutive patients with rTOF who had undergone PVR at an age of >12 years. Homograft dysfunction was defined as at least moderate pulmonary regurgitation (PR) or pulmonary stenosis (PS) (pressure gradient >/=36 mm Hg) as assessed by echocardiography. Reintervention was defined as percutaneous intervention or redo-PVR. RESULTS: A total of 153 patients with rTOF were included (62% male, mean age at PVR 31+/-11 years, pulmonary homograft 96%, follow-up 9.6 years (IQR 5.9, 13.3)). Average freedom from homograft dysfunction and reintervention after 10 years was 74% and 89%, respectively. In multivariable Cox proportional hazards analysis, postoperative PS >/=20 mm Hg (HR 6.52, 95% CI 3.09 to 13.7), postoperative PR >/= grade 1 (HR 3.13, 95% CI 1.45 to 6.74) and age at PVR /=2 risk factors (25% and 73%, respectively). CONCLUSIONS: Individualised prediction of homograft durability in patients with rTOF can be guided by early postoperative echocardiography. In adult patients without early postoperative PS or PR, homograft dysfunction and reintervention are unlikely to occur within 10 years, and follow-up may be less stringent.

This editorial refers to ‘Efficacy of losartan vs. atenolol for the prevention of aortic dilation in Marfan syndrome: a randomized clinical trial’[†][1], by A. Forteza et al ., on page 978. The only validated therapy for Marfan patients with aortic aneurysms has always been invasive surgery of the dilated aorta and awaiting progression of the disease to affect the remainder.1,2 For >20 years, pharmacological treatment consisted of beta-blockade as a supportive therapy in order to slow down the rate of aortic dilatation, supposedly by lowering blood pressure and d P /d t in the aorta. Although recommended in North American and European guidelines, beta-blockade has been prescribed based on studies with conflicting results, and only one small, prospective, randomized study of 70 patients.3 Recently, after evidence of the effectiveness of losartan in a Marfan mouse model, expectations were sky high, as it was speculated that this drug might become a more causative treatment, by reducing transforming growth factor-β (TGF-β) signalling in the diseased aortic wall, proposed to be at the origin of the disease.4 The first results in humans were very encouraging. Losartan seemed effective in … [1]: #fn-2

Pulmonary arterial hypertension is a serious complication of adult congenital heart disease associated with systemic-to-pulmonary shunts. Although early shunt closure restricts development of pulmonary arterial hypertension, patients remain at risk even after repair. The development of pulmonary arterial hypertension is associated with a markedly increased morbidity and mortality. It is important to identify patients with a poor prognosis using disease specific markers. Echocardiography and biomarkers arise as practical tools to determine the risk of mortality. Although pulmonary arterial hypertension cannot be cured, four classes of disease-targeting therapies are currently available and several promising therapies are being studied. There is a shift in drug studies towards more clinically relevant endpoints such as time to clinical worsening and morbidity and mortality events.

Successful repair of shunts in patients with congenital heart disease (CHD) is often erroneously considered a cure, leading to a large number of patients lost to follow-up after discharge [(1)][1]. The prevalence of pulmonary hypertension (PH) appears to be high after shunt closure [(2)][2] and is

Background— It has been shown that losartan reduces aortic dilatation in patients with Marfan syndrome. However, treatment response is highly variable. This study investigates losartan effectiveness in genetically classified subgroups. Methods and Results— In this predefined substudy of COMPARE, Marfan patients were randomized to daily receive losartan 100 mg or no losartan. Aortic root dimensions were measured by MRI at baseline and after 3 years. FBN1 mutations were classified based on fibrillin-1 protein effect into (1) haploinsufficiency, decreased amount of normal fibrillin-1, or (2) dominant negative, normal fibrillin-1 abundance with mutant fibrillin-1 incorporated in the matrix. A pathogenic FBN1 mutation was found in 117 patients, of whom 79 patients were positive for a dominant negative mutation (67.5%) and 38 for a mutation causing haploinsufficiency (32.5%). Baseline characteristics between treatment groups were similar. Overall, losartan significantly reduced aortic root dilatation rate (no losartan, 1.3±1.5 mm/3 years, n=59 versus losartan, 0.8±1.4 mm/3 years, n=58; P =0.009). However, losartan reduced only aortic root dilatation rate in haploinsufficient patients (no losartan, 1.8±1.5 mm/3 years, n=21 versus losartan 0.5±0.8 mm/3 years, n=17; P =0.001) and not in dominant negative patients (no losartan, 1.2±1.7 mm/3 years, n=38 versus losartan 0.8±1.3 mm/3 years, n=41; P =0.197). Conclusions— Marfan patients with haploinsufficient FBN1 mutations seem to be more responsive to losartan therapy for inhibition of aortic root dilatation rate compared with dominant negative patients. Additional treatment strategies are needed in Marfan patients with dominant negative FBN1 mutations. Clinical Trial Registration— http://www.trialregister.nl/trialreg/index.asp ; Unique Identifier: NTR1423.

Endothelin receptor antagonists are regarded a cornerstone in treatment of pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD). Currently macitentan, a potential successor of the widely applied bosentan, is being introduced. A recent trial has proven its outstanding

Pulmonary Valve Replacement (PVR) leads to a reduction of right ventricular (RV) volume in tetralogy of Fallot (TOF) but its effects are unknown in patients with isolated pulmonary regurgitation (iPR) after repair of pulmonary stenosis (PS). Our objective was to compare hemodynamic effects of PVR to

Item does not contain fulltext BACKGROUND: Aortic dissections involving the descending aorta are a major clinical problem in patients with Marfan syndrome. OBJECTIVES: The purpose of this study was to identify clinical parameters associated with type B aortic dissection and to develop a risk model to predict type B aortic dissection in patients with Marfan syndrome. METHODS: Patients with the diagnosis of Marfan syndrome and magnetic resonance imaging or computed tomographic imaging of the aorta were followed for a median of 6 years for the occurrence of type B dissection or the combined end point of type B aortic dissection, distal aortic surgery, and death. A model using various clinical parameters as well as genotyping was developed to predict the risk for type B dissection in patients with Marfan syndrome. RESULTS: Between 1998 and 2013, 54 type B aortic dissections occurred in 600 patients with Marfan syndrome (mean age 36 +/- 14 years, 52% male). Independent variables associated with type B aortic dissection were prior prophylactic aortic surgery (hazard ratio: 2.1; 95% confidence interval: 1.2 to 3.8; p = 0.010) and a proximal descending aorta diameter >/=27 mm (hazard ratio: 2.2; 95% confidence interval: 1.1 to 4.3; p = 0.020). In the risk model, the 10-year occurrence of type B aortic dissection in low-, moderate-, and high-risk patients was 6%, 19%, and 34%, respectively. Angiotensin II receptor blocker therapy was associated with fewer type B aortic dissections (hazard ratio: 0.3; 95% confidence interval: 0.1 to 0.9; p = 0.030). CONCLUSIONS: Patients with Marfan syndrome with prior prophylactic aortic surgery are at substantial risk for type B aortic dissection, even when the descending aorta is only slightly dilated. Angiotensin II receptor blocker therapy may be protective in the prevention of type B aortic dissections.

Contains fulltext : 156882.pdf (Publisher’s version ) (Open Access) RATIONALE: A number of randomized trials are underway, which will address the effects of angiotensin receptor blockers (ARBs) on aortic root enlargement and a range of other end points in patients with Marfan syndrome. If individual participant data from these trials were to be combined, a meta-analysis of the resulting data, totaling approximately 2,300 patients, would allow estimation across a number of trials of the treatment effects both of ARB therapy and of beta-blockade. Such an analysis would also allow estimation of treatment effects in particular subgroups of patients on a range of end points of interest and would allow a more powerful estimate of the effects of these treatments on a composite end point of several clinical outcomes than would be available from any individual trial. DESIGN: A prospective, collaborative meta-analysis based on individual patient data from all randomized trials in Marfan syndrome of (i) ARBs versus placebo (or open-label control) and (ii) ARBs versus beta-blockers will be performed. A prospective study design, in which the principal hypotheses, trial eligibility criteria, analyses, and methods are specified in advance of the unblinding of the component trials, will help to limit bias owing to data-dependent emphasis on the results of particular trials. The use of individual patient data will allow for analysis of the effects of ARBs in particular patient subgroups and for time-to-event analysis for clinical outcomes. The meta-analysis protocol summarized in this report was written on behalf of the Marfan Treatment Trialists' Collaboration and finalized in late 2012, without foreknowledge of the results of any component trial, and will be made available online (http://www.ctsu.ox.ac.uk/research/meta-trials). 01 mei 2015

Bicuspid aortic valve (BAV) is the most common congenital cardiac defect causing serious morbidity including valvular dysfunction and thoracic aortic aneurysms (TAA) in around 30% of BAV patients. Cardiological screening of first-degree relatives is advised in recent guidelines given the observed familial clustering of BAV. However, guidelines regarding screening of family members and DNA testing are not unequivocal. The aim of this review is to provide an overview of the literature on echocardiographic screening in first-degree relatives of BAV patients and to propose a model for family screening. In addition, we provide a flowchart for DNA testing. We performed a PubMed search and included studies providing data on echocardiographic screening in asymptomatic relatives of BAV patients. Nine studies were included. In 5.8-47.4% of the families BAV was shown to be familial. Of the screened first-degree relatives 1.8-11% was found to be affected with BAV. Results regarding a potential risk of TAA in first-degree relatives with a tricuspid aortic valve (TAV) were conflicting. The reported familial clustering of BAV underlines the importance of cardiological screening in relatives. After reviewing the available family history, patient characteristics and the results of cardiological screening in relatives, follow-up in relatives with a TAV and/or DNA testing may be advised in a subset of families. In this study we propose a model for the clinical and genetic work-up in BAV families, based on the most extensive literature review on family screening performed until now.

BACKGROUND\nRecently, we demonstrated that losartan reduced the aortic root dilatation rate (AoDR) in adults with Marfan syndrome (MFS); however, responsiveness was diverse. The aim was to determine the role of transforming growth factor-β (TGF-β) as therapeutic biomarker for effectiveness of losartan on AoDR.\nMETHODS\nBaseline plasma TGF-β levels of 22 healthy controls and 99 MFS patients, and TGF-β levels after 1 month of losartan treatment in 42 MFS patients were measured. AoDR was assessed by magnetic resonance imaging at baseline and after 3 years of follow-up.\nRESULTS\nPatients with MFS had higher TGF-β levels compared with healthy controls (121 pg/ml versus 54 pg/mL, p = 0.006). After 1 month of therapy, losartan normalised the TGF-β level in 15 patients (36%); the other 27 patients (64%) showed a significant increase of TGF-β. After 3 years of losartan therapy, patients with a decrease in TGF-β had significantly higher AoDR compared with patients with increased TGF-β (1.5 mm/3 years versus 0.5 mm/3 years, p = 0.04). Patients showing a decrease in TGF-β after losartan therapy had significantly elevated baseline TGF-β levels compared with patients with increased TGF-β (189 pg/ml versus 94 pg/ml, p = 0.05).\nCONCLUSION\nPatients responding to losartan therapy with a reduction of the plasma TGF-β level had higher baseline TGF-β levels and a higher AoDR. Most likely, TGF-β levels may be considered to be a readout of the disease state of the aorta. We propose that increased angiotensin II is the initiator of aorta dilatation and is responsible for increased TGF-β levels in MFS. The concept of TGF-β as initiator of aortic dilatation in MFS patients should be nuanced.

Cardiac platypnoea-orthodeoxia syndrome (POS) is a position-dependent condition of dyspnoea and hypoxaemia due to right-to-left shunting. It often remains unrecognised in clinical practice, possibly because of its complex underlying pathophysiology. We present four consecutive patients with POS and patent foramen ovale (PFO) who underwent a successful percutaneous PFO closure, describe the mechanism of their POS and provide a review of the literature.

Contains fulltext : 49585.pdf (Publisher’s version ) (Closed access) Information on pregnancy and delivery in women with biventricular repair for isolated noncomplex pulmonary atresia with a ventricular septal defect (PAVSD) is limited. Using a nationwide congenital heart disease registry (CONgenital CORvitia [CONCOR]), 9 women with biventricular repair for PAVSD (aged 21 to 38 years) were identified. Ten pregnancies were observed in 5 different women with PAVSD, including 3 spontaneous miscarriages. Clinically significant (non)cardiac complications were documented in 3 of 7 completed pregnancies. These complications were: (1) atrioventricular reentry tachycardia with symptomatic right-sided heart failure; (2) eclampsia with hemolysis, elevated liver enzymes, and low platelets syndrome further complicated by abruptio placentae leading to premature delivery of a small-for-gestational-age child; and (3) premature delivery due to cervical insufficiency with antepartum demise of an immature child. Furthermore, none of the women reported infertility. Moreover, none of the women reported irregularities of their natural menstrual cycle (age at menarche 13 years; cycle duration 28 days), with the exception of delayed menarche (>16 years) in 2 patients. In conclusion, successful pregnancy in patients with biventricular repair of PAVSD is possible, although often complicated by serious clinically significant events. Infertility and menstrual cycle disorders do not appear to be more prevalent, except for a high incidence of primary amenorrhea.

Objective: To investigate the obstetric maternal and neonatal outcome of pregnancy in women with Marfan syndrome.Methods: Retrospective observational multi-center study based on congenital heart disease registry.Results: Sixty-three of the 122 enrolled women with Marfan syndrome had been pregnant 142 times (including 111 pregnancies > 20 weeks, 28 (20%) miscarriages and 3 elective abortions). In 40% of all completed pregnancies an obstetric and/or neonatal complication occurred. The most important complications were an increased percentage of premature deliveries (n=17, 15%) mainly due to preterm premature rupture of membranes and cervical incompetence and a markedly increased combined fetal and neonatal mortality of 7.1%. An obstetric and/ or neonatal complication occurred in a similar proportion of pregnancies in women with a diagnosis of Marfan syndrome before pregnancy versus women with a diagnosis of Marfan syndrome after pregnancy (39% vs. 41%, p=0.85, respectively).Conclusion: In addition to cardiovascular complications, pregnancy in women with Marfan syndrome is associated with a high rate of premature deliveries, preterm premature rupture of membranes and increased mortality in the offspring. (c) 2005 Elsevier Ireland Ltd. All rights reserved.

AIMS: To investigate the role of guidelines in structuring the clinical care for adult patients with congenital heart disease (CHD), and to assess adherence to the guidelines in Europe. METHODS AND RESULTS: A selected number of current guidelines were chosen pertaining to operative procedures, investigations, and the use of medication ('interventions'). The source for this analysis was the database of the Euro Heart Survey on adult CHD, which contains retrospectively collected data on 4110 patients followed-up for a median of 5.1 years. For each guideline investigated, patients were selected from the database for whom the particular guideline was relevant. The selected cases were classified according to two criteria: was there an indication for the particular intervention and did the intervention take place? In this manner, cases of 'undue treatment' and 'insufficient treatment' were identified. Adherence to guidelines was found to be good in the case of operative procedures and prophylactic drug treatment. However, regarding diagnostic procedures there had been adherence to guidelines in only slightly more than half of the cases. CONCLUSION: Guidelines have an important role in the actual clinical care of adults with CHD. However, large outcome studies are needed to develop more precise guidelines

BACKGROUND: In patients, after repair of aortic coarctation, abnormal function of the proximal precoarctation arterial conduits has been demonstrated, but data on arterial wall structure of proximal and distal arteries in patients are scarce. The aim of our study is to compare intima-media thickness (IMT) of the carotid and femoral arteries in controls and patients after coarctation repair and to identify independent predictors of carotid and femoral IMT. METHODS: A total of 137 patients after repair of aortic coarctation (89 male, median age 29.7 years, range 17-74 years, and median age at repair 6.3 years, range 0.01-46 years) and 46 age-matched controls underwent ambulatory blood pressure monitoring and B-mode ultrasound of the carotid and femoral arteries. RESULTS: Twenty (15%) of the 137 patients were operated on before the age of 1 year ("early repair"). The patients with an early repair were younger compared to the controls and compared with the patients with a late repair (24.5 [10.5] vs 31.6 [8.4] years, P = .005, and vs 32.1 [10.5] years, P < .001, respectively). Eighty patients (59%) had hypertension on the basis of the results of the ambulatory blood pressure monitoring (mean daytime blood pressure > or = 135/85 mm Hg). The prevalence of hypertension was not significantly different between patients with an early or late repair. Although patients with an early repair were younger, both carotid and femoral IMT were increased in these patients compared to controls (common carotid artery 0.57 [0.11] vs 0.49 [0.07] mm, P < .001; common femoral artery 0.48 [0.10] vs 0.44 [0.05] mm, P = .033). In multivariable regression analyses, age at repair was only an independent predictor of femoral and not of carotid IMT. CONCLUSIONS: Patients, after repair of aortic coarctation, have increased carotid and femoral IMT despite normal ambulatory blood pressures and successful previous repair. Early repair seems to preserve postcoarctation arterial wall structure, but seems to have only limited effect on precoarctation vessel walls, which supports the theory of a developmental defect of the proximal aorta and its branches

Survival of patients with aortic coarctation has dramatically improved after surgical repair became available and the number of patients who were operated and reach adulthood is steadily increasing. However, life expectancy is still not as normal as in unaffected peers. Cardiovascular complications are frequent and require indefinite follow-up. Concern falls chiefly in seven categories: recoarctation, aortic aneurysm formation or aortic dissection, coexisting bicuspid aortic valve, endocarditis, premature coronary atherosclerosis, cerebrovascular accidents and systemic hypertension. In this review, these complications, with particular reference to late hypertension, are discussed and strategies for the clinical management of post-coarctectomy patients are described. &COPY; 2004 Elsevier Ireland Ltd. All rights reserved

Aims To investigate magnitude and determinants of risks during pregnancy in women with Mustard or Senning repair for complete transposition of the great arteries (TGA).Methods and results Using a nationwide registry (CONCOR), 70 women with Senning (23%) or Mustard (77%) repair for TGA were enrolled. A total of 28 patients had 69 pregnancies (two twins), including 17 spontaneous miscarriages and three elective abortions. During 39 of the 49 completed pregnancies, complications were observed. The most important cardiac complication was clinically significant arrhythmia (n=11, 22%), especially occurring in patients with a prior history of arrhythmia. Important general pregnancy complications were preeclampsia (n=5, 10.2%) and pregnancy-induced hypertension (n=4, 8.2%). Obstetric complications included premature rupture of membranes (n=7, 14.3%), premature labour (n=12, 24.4%), premature delivery (n=16, 31.4%), and thrombo-embolic complications (n=2, 4.1%). Mean (singleton) pregnancy duration was 36 +/- 5 weeks. Eleven of the 51 children (21.6%) were small for gestational age. Foetal and neonatal mortality combined was 11.8% (n=6). No recurrence of congenital heart disease in the offspring was documented.Conclusion In this largest report on pregnancy in women with atrial-corrected TGA to date, a high incidence of obstetric complications and mortality in the offspring was observed.

Contains fulltext : 48012timmermans.pdf (Publisher’s version ) (Closed access) The leading cause of premature death in patients with Marfan's syndrome (MS) is type A aortic dissection or rupture due to progressive aortic root dilation. The aim of this study was to analyze aortic root growth in 113 men and 108 women with MS. All patients were prospectively followed with serial echocardiograms of the native aortic root. At baseline, women had on average a 5-mm smaller aortic root diameter adjusted for age than men. Average aortic root growth was 0.42 mm/year (SE 0.05) in men and 0.38 mm/year (SE 0.04) in women. On the basis of aortic root growth rates, the men and women could be divided into 2 normally distributed subgroups: fast and slow growers. Approximately 1 in 7 men (1.5 mm/year, SE 0.5) and approximately 1 in 9 women (1.8 mm/year, SE 0.3) had fast-growing aortic root diameters. Significantly more type A dissections (25% vs 4%, p

Aims In most pregnancy reports, atrioventricular septal defects (AVSD) are not differentiated from more simple septal defects, thus underestimating the risks of pregnancy. To investigate the magnitude and determinants of risk during pregnancy in female patients with balanced AVSD.Methods and results Using a nation-wide registry (CONCOR), 79 female patients with balanced/isolated AVSD were identified. A total of 29 patients had 62 pregnancies, including 12 miscarriages (19%) and two elective abortions. Detailed recordings of each completed (greater-than 20 weeks gestation) pregnancy (n=48, 26 women) were obtained. Cardiovascular events complicated almost 40% of the completed pregnancies. In particular, post-partum persistence of pregnancy-related New York Heart Association (NYHA) class deterioration [23% mainly patients with residual atrial septal defects (ASD)] and deterioration of pre-existing left AV-valvular regurgitation (17%) were frequently recorded. Additional cardiac complications were arrhythmias (19%) and symptomatic heart failure (2%). Congenital heart disease (CHD) recurred in six children (12%): AVSD (n=4, three with left-sided hypoplasia), patent ductus arteriosus (n=1), and ASD (n=1). Three children died including two children with left-sided hypoplasia.Conclusion Pregnancy is not always well tolerated in women with AVSD, predominantly due to NYHA class deterioration and worsening of pre-existing AV-valvular regurgitation. Offspring mortality is high (6.3%), primarily due to recurrence of complex CHD.

Aim Patients with Marfan syndrome may develop dissection due to progressive dilatation in the entire aorta, which is not always predictable by mere anatomic assessment of the aortic diameter, especially of the descending aorta. The aim of this study was to identify the predictive value of aortic stiffness on the occurrence of dissection and progressive aortic dilatation. Methods and results In 78 non-operated patients with Marfan syndrome (mean age 31±8 years, mean aortic root diameter 43±6 mm, range 31–55 mm) aortic stiffness and diameters were assessed by magnetic resonance imaging (MRI) at multiple levels. After a median follow-up of 71 months (25–75%: 68–72 months) a second MRI was performed and the incidence of aortic dissection and progressive aortic dilatation, defined as mean aortic diameter increase \batchmode \documentclass[fleqn,10pt,legalpaper]{article} \usepackage{amssymb} \usepackage{amsfonts} \usepackage{amsmath} \pagestyle{empty} \begin{document} \(>\) \end{document}1 mm/year was determined. During follow-up, 4 (5%) of 78 patients developed an aortic dissection (1 type A, 2 type B, and 1 infra-renal dissection). Twenty (26%) of the 78 patients had progressive aortic root dilatation. There were 5 (6%) patients with progressive descending thoracic aortic dilatation and 6 (7%) with progressive abdominal aortic dilatation. Multivariate logistic regression analysis revealed that local distensibility was an independent predictor of progressive thoracic descending aortic dilatation (OR=4.14, 95% CI, 1.02–16.7). For progressive aortic root and abdominal aortic dilatation local initial diameter appeared to be the major predictor (OR=1.37, 95% CI, 1.16–1.62; OR=1.36, 95% CI, 1.09–1.69, respectively). Conclusion In patients with Marfan syndrome both aortic diameter and aortic distensibility are independent predictors of progressive aortic dilatation. For optimal risk assessment and monitoring of patients with Marfan syndrome, both aortic stiffness and diameter should be assessed at least annually.

Objectives To investigate whether exercise-induced hypertension in successfully repaired adult post-coarctectomy patients is associated with hypertension on 24-h blood pressure measurement and increased left ventricular mass. Methods One hundred and forty-four consecutive postcoarctectomy patients (mean age 31.5 years, range 17-74 years; mean age at repair 7.9 years, range 0-45 years) from three tertiary referral centres were studied using ambulatory blood pressure monitoring, treadmill exercise testing and echocardiography. Results Of the 144 patients, 27 (19%) were known to have sustained hypertension, based on their history, and all were on antihypertensive medication. However, 32 (27%) of the remaining 117 patients showed elevated mean daytime systolic blood pressure readings at 24-h ambulatory blood pressure monitoring (systolic blood pressure greater than or equal to 140 mmHg). Of the remaining 85 patients with normal mean daytime systolic blood pressure, 18 patients (21%) had exercise-induced hypertension (maximal exercise systolic blood pressure > 200 mmHg). Mean daytime systolic blood pressure was higher in the exercise-induced hypertensive patients compared to the normotensive patients with normal exercise blood pressure (1134 +/- 5 versus 129 +/- 7 mmHg, P = 0.008). By multivariate analysis, both maximal exercise systolic blood pressure (P = 0.007) and resting systolic blood pressure (P

Aortic coarctation is an unusual cause of hypertension in pregnancy. We report the case of a 34-year-old woman with severe hypertension after surgical repair of aortic coarctation in childhood. An MRI showed a residual stenosis of the aortic arch and a small aneurysm. Pregnant postcoarctectomy patients are at an increased risk for developing hypertension during pregnancy due to residual aortic gradients and abnormal vascular reactivity of the precoarctation vessels. Women after repair of aortic coarctation should be closely monitored for blood pressure during pregnancy.

quality of interdisciplinary care of grown-up with congenital heart disease (GUCH)” Dounya Schoormans ⁎, Barbara J.M. Mulder , Mirjam A.G. Sprangers c a Department of Cardiology, Department of Medical Psychology, Academic Medical Center, Amsterdam, The Netherlands b Department of Cardiology, Academic Medical Center, Amsterdam, The Netherlands c Department of Medical Psychology, Academic Medical Center, Amsterdam, The Netherlands

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.

Objective: To investigate if a simple axial spin echo (SE) image can be used for reliable assessment of pulmonary artery dimensions in patients with Marfan syndrome. Methods: Fifty Marfan patients (mean age 33 ± 10 years; 34 men, 16 women) and 15 normal subjects (mean age 28 ± 4 years; nine men, six women) underwent cardiac magnetic resonance imaging (MRI). Pulmonary artery dimensions were obtained on axial SE images at two different levels: (1) the level of the pulmonary artery root, and (2) the level of the pulmonary artery bifurcation. To evaluate the accuracy of axial plane measurements 10 Marfan patients also underwent contrast-enhanced MR angiography (CE-MRA). Results: In the 10 Marfan patients who also underwent CE-MRA, the mean diameter at the pulmonary bifurcation assessed with CE-MRA (31.5 ± 3.6 mm) was almost equal to mean diameter assessed with axial SE (30.7 ± 3.6 mm). Agreement of methodology according to Bland and Altman analysis showed a 95% confidence interval ranging from −2.6 to +4.4 mm for all distances of the pulmonary artery root. In Marfan patients the mean right-left diameter measured on both axial SE images and CE-MRA was approximately 2.5 mm larger than the anterior-right and anterior-left diameters (p < 0.001). Conclusions: Axial SE MRI is a reliable and easy acquisition to measure pulmonary artery dimensions in patients with Marfan syndrome, and could be used for follow-up, especially in patients with severe involvement of the cardiovascular system. Not only the pulmonary artery trunk but also the asymmetric pulmonary root should be measured, although the clinical relevance of the asymmetric root is not yet known.

We explored the effect of dobutamine stress and its possible clinical implications in different groups of asymptomatic patients with chronic right ventricular (RV) pressure overload due to congenital heart disease. Forty-seven asymptomatic and minimally symptomatic patients with chronic RV pressure overload were studied: 24 patients with systemic right ventricles (16 surgically corrected transposition of the great arteries (TGA) (Mustard or Senning), 8 congenitally corrected TGA), 23 patients with chronic pressure overloaded subpulmonic right ventricles, and 11 age- and sex-matched healthy volunteers. Magnetic resonance imaging (MRI) was performed both at baseline and during dobutamine stress to determine RV volumes and ejection fraction. At baseline, RV ejection fraction in patients with surgically corrected TGA was significantly lower than in controls (58 +/- 10% vs 70 +/- 8%, p = 0.02). During dobutamine stress, RV ejection fraction increased significantly in controls and patient groups except for patients with pressure overloaded subpulmonic right ventricles. RV stroke volume increased in controls (21 +/- 21%, p = 0.008); RV stroke volume remained unchanged in patients with congenitally corrected TGA and surgically corrected TGA (2 +/- 17%, p = NS; -8 +/- 29%, p = NS) A significant RV stroke volume decrease was observed in patients with subpulmonic right ventricles (-15 +/- 16%, p = 0.0002). The changes in RV stroke volume were accompanied by a significant decrease in RV end-diastolic volume (- 13 +/- 14%, p = 0.001) in patients with subpulmonic right ventricles and in patients with surgically corrected TGA (-23 +/- 16%, p = 0.0001). In controls and in patients with congenitally corrected TGA there was no change in RV end-diastolic volume (3 +/- 15%, p = NS; -5 +/- 11%, p = NS) There is a clear heterogeneity in response to MRI dobutamine stress between different groups of patients with chronic RV pressure overload. Our data suggest impaired filling in surgically corrected TGA and decreased contractility in patients with chronic pressure overloaded subpulmonic right ventricles. Dobutamine stress MRI may facilitate follow-up of RV (dys)function in patients with chronic RV pressure overload due to congenital heart disease. (C) 2002 by Excerpta Medica, Inc

Coronary ostial aneurysm is a common finding in patients with Marfan's syndrome after aortic root surgery, especially in patients who are greater than or equal to35 years of age at time of surgery

Background: Little is known on the clinical course of tricuspid regurgitation (TR) in patients with repaired tetralogy of Fallot (rTOF) and which patients are at particular risk. This study aims to determine TR course, characteristics associated with TR progression, and the prognostic relevance of TR in rTOF patients. Methods: In this dualcenter cohort study, rTOF patients from a prospective national registry with >= 1 cardiac magnetic resonance imaging study and >= 2 echocardiograms available were included. Clinical and imaging data were collected. Cox hazards regression analysis was used to assess patient characteristics associated with progression to severe TR and whether severe TR was associated with the combined clinical endpoint of tachyarrhythmia, heart failure, and death, as time-dependent factor. Results: A total of 216 patients were included (57% men, age 34 +/- 12 years); 11 patients (5%) had severe TR at baseline. During 7.6 +/- 3.5 years of follow-up, progression to severe TR occurred in 15 patients (7%). NYHA class >= 2 (HR 5.38, 95%-C.I. 1.91-15.16, p = 0.001) and moderate baseline TR (HR 13.10, 95%-C.I. 2.95-58.21, p = 0.001) were independently associated with progression to severe TR. Adverse events occurred in 47 patients (22%). The occurrence of severe TR was independently associated with adverse events (HR 3.48, 95%-C.I. 1.68-7.21, p = 0.001). Conclusions: In this study, severe TR was present in 12% of adult rTOF patients during 7.6 years, and progression to severe TR was most likely in symptomatic patients with moderate baseline TR. In these patients, close surveillance is warranted, because the occurrence of severe TR was associated with worse prognosis. (C) 2017 Elsevier B.V. All rights reserved

A Duplication Including GATA4 Does Not Co-Segregate With Congenital Heart Defects Irene C. Joziasse,* Jasper J. van der Smagt, Martin Poot, Ron Hochstenbach, Marcel R. Nelen, Marielle van Gijn, Dennis Dooijes, Barbara J.M. Mulder, and Pieter A. Doevendans Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands Department of Cardiology, Academic Medical Center, Amsterdam, The Netherlands

Dear Editor,Aortic dissection is the most common cause of death in the naturalhistory of patients with Marfan Syndrome [1]. To prevent death due toacute aortic dissection, indications for aortic root replacement are muchless restrictive in patients with Marfan Syndrome, compared to the gen-eral population [2,3]. The number of young Marfan patients undergoingaortic root surgery is steadily increasing [4]. With increasing numbers ofpatients in the operating theater comes an increasing prevalence ofperi-operative complications.In our clinic, three patients with Marfan Syndrome who had toundergo aortic root replacement were diagnosed with an aberrantcoronary artery, of whom only one pre-operatively. All three patientsunderwent aortic root replacement for progressive aortic root dilata-tion;withamaximumdiameterof50mm.Noneofthepatientsexperi-encedanycardiaccomplaints.Atthetimeofsurgery,twopatientswereon β-blockade, oneincombination withanangiotensin II (AT II)recep-tor blocker, and one patient was not on any medication, as β-blockadewas poorly tolerated, and the beneficial effects of ACE inhibitors andAT II receptor blockers had not yet been proven at the time. In allthree patients the ramus circumflexus (RCX) was found to arise fromthe right coronary artery (RCA).In patient A (male, 28 years old, surgery in 2008), the aberrantcoronary artery was diagnosed on transesophageal echocardiographyintheoperatingtheaterunderanesthesia(Fig.1A).Surgerywasabortedto perform computed tomography (CT) coronary angiography, afterwhichasuccessfulDavidprocedurewasperformed.Thebuttonholdingboth the RCA and the RCX was re-implanted in the commissurebetween the right- and the non-coronary cusps without complication.In patient B (female, 43 years old, surgery in 2009), the aberrant coro-nary artery had not been diagnosed pre-operatively, and was uninten-tionally sliced during surgical dissection of the right coronary button.Fortunately, the RCX could successfully be re-implanted at the locationof the non-coronary cusp. In retrospect, pre-operative transesophagealechocardiographydidrevealtheaberrantRCX,buthadbeenoverlooked(Fig. 1B). To prevent such major complications during future surgery,we introduced CT coronary angiography in all Marfan patients prior toaortic surgery. Therefore, in patient C (male, 31 years old, surgery in2013),anaberrant RCX arisingfromthe RCAwasfound on CT coronaryangiographypriortosurgery(Fig.2).Inthispatient,aorticrootreplace-mentwassuccessfullyperformed,withre-implantationofthecoronaryarteries.In the general population, about 1.1% of individuals have an aberrantcoronary artery [5]. These numbers could somewhat underestimate thereal prevalence, as malign coronary anatomy may result in suddencardiac death prior to diagnosis. Our population consisted of 54 patientswho underwent surgery between 2003 and 2013, in which threepatients (5.6%, CI 95% −0.6% to 11.8%) were diagnosed with an aberrantcoronary artery. This higher percentage could well be incidental, asabsolute patient numbers are small. Currently, no data have been pub-lishedindicatingthatpatientswithMarfanSyndromehaveahigherprev-alence of aberrant coronary anatomy. On the other hand, the chance of aMarfan patient undergoing aortic surgery during his/her lifetime is muchgreater than in the general population, increasing the relative risk to en-counter coronary anomalies in these patients.Current European guidelines recommend cardiovascularmagnetic resonance (CMR) in all Marfanpatients to evaluate the entireaorta.Moreover,ifevaluationofcoronaryarterydiseasepriortosurgeryis warranted, CT coronary angiography is recommended, as catheter

Item does not contain fulltext OBJECTIVE: Patients with surgically repaired tetralogy of Fallot (rTOF) may develop functional tricuspid regurgitation (TR) due to annulus dilation. Guidelines suggest pulmonary valve replacement (PVR) in patients with rTOF with progressive TR, but data on clinical outcomes are lacking. Our objective was to determine whether TR was predictive for adverse events after PVR. METHODS: In this retrospective, multicenter cohort study, patients with rTOF who had undergone PVR after preoperative echocardiographic assessment of TR grade were included. Preoperative and postoperative imaging data and a composite of adverse clinical events (death, sustained ventricular tachycardia, heart failure, or supraventricular tachycardia) were collected. Multivariate Cox hazards regression analysis was used to determine which factors were predictive for adverse events after PVR. RESULTS: A total of 129 patients (61% men, age at PVR 32.9+/-10.4 years) were included. The composite endpoint occurred in 39 patients during 8.4+/-4.2 years of follow-up. In multivariate analysis, severe preoperative TR (HR 2.49, 95% CI 1.11 to 5.52), right ventricular end-systolic volume (HR 1.02/mL/m(2), 95% CI 1.01 to 1.03) and age at PVR (HR 1.07/year, 95% CI 1.04 to 1.09) were predictive for adverse events. Early postoperative TR was not predictive for adverse events (p=0.96). In patients without any risk factor (age >40 years, right ventricular end-systolic volume >90 mL/m(2) or severe TR), 5-year event-free survival was 100% as compared with 61% in patients with two or three risk factors. CONCLUSIONS: In patients with rTOF, severe preoperative TR was predictive for adverse events after PVR. Close surveillance is warranted in these patients irrespective of postoperative TR.

To evaluate incidence and results of surgical intervention for neoaortic root pathology following arterial switch operation (ASO) for transposition of the great arteries (TGA). Between April 1996 and August 2013, 12 patients underwent reoperation for neoaortic root dilatation (ARD) and/or neoaortic valve regurgitation (AR). Maximal aortic sinus and annulus diameter Z-scores were recorded. Original diagnoses were TGA/IVS (6), TGA/ventricular septal defect (VSD) (4) and Taussig-Bing anomaly (2) with ASO at a median age of 0.1 (range: 0-10.6) years. Age at ASO, VSD and complex TGA were reviewed as possible risk factors for reoperation. Twelve patients with tricuspid neoaortic valves underwent 15 root operations; indications were root dilatation (4) and root dilatation with AR (8). Median age was 18.0 (3.0-29.0) years at first reoperation. Median aortic root Z-score at reoperation was 6.33 (range: 3.84-12.15). Procedures were: Bentall procedure (6), aortic valve replacement (2), neoaortic valve plasty (1), supracoronary tube (1) and switch-back operation (2). Mean follow-up was 7.0 ± 5.7 years and complete. No mortality occurred. One patient had two reoperations for late endocarditis. Technical difficulties were encountered related to specific anatomy post-ASO concerning coronary anatomy, poor exposure and thin-walled aorta at the site of pulmonary artery bifurcation after Lecompte manoeuvre. Valve sparing surgery seemed not feasible due to specific anatomy of the neoaortic root and valve. No risk factors for reoperation could be identified. After ASO, surgery for neoaortic root pathology may become necessary when follow-up is long enough and regardless of primary diagnosis or other risk factors. Redo neoaortic surgery can be performed with low risk taking into account the specific technical difficulties

After the arterial switch operation (ASO), disproportional neo-aortic growth during childhood has been reported. Even though it has been suggested neo-aortic dilation will stabilise in adulthood, data are lacking. The aim of this study was to assess the change in neo-aortic dimensions, prevalence of neo-aortic dilation >40 mm and long-term outcome in adults who underwent ASO in childhood. All 116 ASO patients operated in a tertiary referral centre and born before 1995 were included. Of these, 83 (72%) survived to adulthood (>17 years) and six were lost to follow-up. Neo-aortic measurements performed in adulthood were collected from available echocardiographic, cardiovascular magnetic resonance and CT images. The time trend was analysed using a mixed model, adjusted for imaging modality. Clinical data with at least one measurement of the neo-aortic diameter were available in 77 (93%) adult patients and serial measurements in 65 (78%). At baseline (median age 18.1 years), mean neo-aortic diameter was 36±5 mm. Mean neo-aortic growth was 0.31 mm/year (p

Objectives: The aim of the present study is to determine the long-term effects of a ten-week exercise training program in adult patients with a systemic right ventricle.Methods: All patients who participated in a 2009 randomized controlled trial were approached. At approximately three years of follow-up from initial baseline, patients underwent cardiopulmonary exercise testing, filled out two quality of life questionnaires, and NT proBNP levels were measured. All examinations were performed according to the protocols of the 2009 trial. In addition, patients were asked about their current sports habits.Results: Of the 54 patients who were randomized in the 2009-trial 40 participated in the current re-evaluation (male 50%, ccTGA 35%, age 36 +/- 10 years, intervention group n = 22, control group n = 18). After three years, no persistent effect of exercise training on V'O-2peak training remained (-2% of predicted, 95% CI -3% to 5%; p = .56). However, patients who already participated in regular sports or exercise at baseline (n = 23/40 (58%)) showed higher V'O-2peak of 13% of predicted (95% CI 4% to 23%; p > .01) and a decrease of 62% in plasma NT-proBNP (95% CI-115% to - 10%; p > .03) during follow-up, when compared to patients who did not. Moreover, sports were associated with a lower incidence of clinical events (p = .032).Conclusion: Short-term beneficial effects of exercise training did not persist over a three-year follow-up period. However, sports participation at baseline was associated with better exercise capacity, lower neurohormone levels, and increased event-free survival. (C) 2014 Elsevier Ireland Ltd. All rights reserved.

Introduction: Bicuspid aortic valve (BAV) is common in Turner syndrome (TS). In adult TS, 82-95% of BAVs have fusion of the right and left coronary leaflets. Data in fetal stages are scarce. The purpose of this study was to gain insight into aortic valve morphology and associated cardiovascular abnormalities in a fetal TS cohort with adverse outcome early in development. Material and Methods: We studied post-mortem heart specimens of 36 TS fetuses and 1 TS newborn. Results: BAV was present in 28 (76%) hearts. BAVs showed fusion of the right and left coronary leaflet (type 1 BAV) in 61%, and fusion of the right coronary and non-coronary leaflet (type 2 BAV) in 39%. There were no significant differences in occurrence of additional cardiovascular abnormalities between type 1 and type 2 BAV. However, all type 2 BAV hearts showed ascending aorta hypoplasia and tubular hypoplasia of the B segment, as opposed to only 55 and 64% of type 1 BAV hearts, respectively. Discussion: The proportion of type 2 BAV seems higher in TS fetuses than in adults. Fetal type 2 BAV hearts all had severe aortic pathology, possibly contributing to a worse prognosis of type 2 than type 1 BAV in TS.

Item does not contain fulltext BACKGROUND: Patients with CHD-PAH have a limited prognosis. In daily practice, combination therapy is often initiated after a clinical event. Although clinical events have been associated with a poor prognosis in idiopathic PAH, data on this association are limited in CHD-PAH. The aim of this study was to determine whether baseline characteristics and clinical events associate with mortality in patients with pulmonary hypertension (PAH) due to congenital heart disease (CHD). METHODS: In total 91 consecutive adults (42 +/- 14 year) with CHD-PAH were referred for therapy between January 2005 and June 2013. Cox proportional hazard analysis was performed to identify determinants of mortality, including clinical events as time dependent covariates. RESULTS: Twenty-four patients (nine with Down) died during the median follow-up of 4.7 (range 0.1-7.9) years. The one and eight year mortality rates were 7.3% and 37.3%, respectively. Clinical events included admission for heart failure (n=9), arrhythmias (n=9), haemoptysis (n=5), change to a worse NYHA class (n=16), vascular events (n=1), syncope (n=1) and need for red blood cell depletion (n=4). In univariate analysis, both baseline characteristics and clinical events were associated with mortality. In multivariate analysis, only baseline NT-pro-BNP serum level >/= 500 ng/L and TAPSE/= 500 ng/L and TAPSE

The aging congenital heart disease (CHD) population is prone to develop a variety of sequelae, including pulmonary arterial hypertension (PAH). Previous prevalence reports have a high degree of variability, with an overrepresentation of tertiary centers. We aimed to report robust prevalence

Background:To improve patients’ quality of life (QoL) we need to identify modifiable determinants, such as illness perceptions. Patients’ illness perceptions are known to regulate emotional responses and health-behaviour. Illness perceptions comprise several components: consequences, control, coherence, changeability and emotional representations.Aims:To examine (a) the relation between patient characteristics and illness perceptions, and (b) the independent predictive value of illness perceptions for future QoL.Methods:A longitudinal study in 845 patients with congenital heart disease was conducted. Patients completed three questionnaires: the IPQ-R (illness perceptions) and two years later the SF-36 and TAAQOL-CHD (QoL). Linear regression analyses were performed relating illness perceptions to patient characteristics (sex, age, disease complexity and functional status) and QoL.Results:Patients with a complex defect or poor functional status reported poor illness perceptions. Independent of patient characteristics, poor illness perceptions (i.e. a strong belief that the illness has severe consequences; a weak belief that you have a coherent illness understanding and that the illness can be controlled by treatment; and a strong belief that the illness is changeable and causes negative emotions) were predictive of future QoL.Conclusion:Illness perceptions independently predict QoL, suggesting that QoL may be improved by altering patients’ beliefs about their illness. For example, increasing patients’ knowledge regarding their disease and informing them about treatment opportunities may enhance their QoL.Keywords: Congenital heart disease, quality of life, illness perceptions