Delivery of care for adult patients with congenital heart disease in Europe: results from the Euro Heart Survey

Aims The increasing number of adults with congenital heart disease (CHD) has prompted the development of recommendations for the management of these patients and for the organization of their healthcare. The aim of this report is to describe the delivery of care in Europe for adults with congenital cardiac anomalies. Methods and results As part of the Euro Heart Survey on Adult Congenital Heart Disease, we obtained data from 71 voluntarily participating centres that detailed their care practices for these patients. Forty-eight of these centres were specialist centres and 23 were non-specialist centres. We found that only 19% of the specialist centres complied with defined standards for optimal care structure. The criteria that appeared to be most difficult for all centres to achieve were performing 50 congenital heart operations or more per year and involving nurse specialists in the care of these patients. Conclusion This survey indicated that the provision of care in Europe for adults with congenital heart defects is suboptimal. To fully realize the benefits of cardiac surgery performed in infants and children, continuous effort must be applied by healthcare professionals in order to implement the recommendations on the organization of care for these patient

Adult patients with pulmonary arterial hypertension due to congenital heart disease: a review on advanced medical treatment with bosentan

Pulmonary arterial hypertension (PAH) is a progressive disease with poor survival outcome. PAH is classified by the 2009 updated clinical classification of pulmonary hypertension and a major subgroup is PAH due to congenital heart disease (CHD) with systemic-to-pulmonary shunt. CHD-PAH is a result of systemic-to-pulmonary shunting and chronic increased flow that ultimately results in adaptations of pulmonary vasculature and endothelial dysfunction. The advanced stage is called Eisenmenger syndrome which forms a small percentage (1%) of all CHD patients. Therapies targeted on PAH symptoms are called primary therapy for PAH, but most CHD-PAH patients progress to advanced therapy which is directed at the PAH itself. In CHD-PAH, advanced therapies are extensively investigated for all three major pathways: endothelin-1 receptor antagonists such as bosentan, prostanoids such as epoprostenol and phosphodiesterase 5 inhibitors such as sildenafil. Endpoints in most trials were catheterization hemodynamics, World Health Organization functional class, six-minute walking distance and patient-focused outcomes, based on quality of life questionnaires and Borg dyspnea index. The BREATHE-5 and EARLY study were two important randomized controlled trials showing efficacy of bosentan at short follow-up. Moreover in patients with Eisenmenger syndrome, one recent survival retrospective study with majority of patients on bosentan showed strong survival benefit over conservative therapy. A diversity of prospective cohort and retrospective studies were performed but all with limited data, due to small numbers and heterogeneity of underlying CHD diagnoses. Further larger studies are needed to determine optimal treatment for adults with CHD-PAH. This review focuses on bosentan in CHD-PAH. In particular, we discuss outcome of various clinical trials and compare efficacy and safety of bosentan to other advanced therapies

Clinical and genetic aspects of bicuspid aortic valve:a proposed model for family screening based on a review of literature

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

Delivery of care for adult patients with congenital heart disease in Europe: Results from the Euro Heart Survey

Aims: The increasing number of adults with congenital heart disease (CHD) has prompted the development of recommendations for the management of these patients and for the organization of their healthcare. The aim of this report is to describe the delivery of care in Europe for adults with congenital cardiac anomalies. Methods and results: As part of the Euro Heart Survey on Adult Congenital Heart Disease, we obtained data from 71 voluntarily participating centres that detailed their care practices for these patients. Forty-eight of these centres were specialist centres and 23 were non-specialist centres. We found that only 19% of the specialist centres complied with defined standards for optimal care structure. The criteria that appeared to be most difficult for all centres to achieve were performing 50 congenital heart operations or more per year and involving nurse specialists in the care of these patients. Conclusion: This survey indicated that the provision of care in Europe for adults with congenital

Effect of age on exercise capacity and cardiac reserve in patients with pulmonary atresia with intact ventricular septum after biventricular repair

OBJECTIVESIn patients with pulmonary atresia with intact ventricular septum (PAIVS), biventricular repair is considered to be the optimal treatment option in the absence of significant right ventricular (RV) hypoplasia. However, long-term clinical outcome studies are limited. We evaluated exercise capacity and cardiac function during pharmacological stress in children and young adults with PAIVS after biventricular repair.METHODSTen PAIVS patients after biventricular repair, with a median age of 12 years (range 9-42 years), underwent a cardiopulmonary exercise test, dobutamine stress magnetic resonance imaging (DS-MRI) and delayed contrast enhancement (DCE) MRI.RESULTSThe patients' ages negatively correlated with exercise capacity (r = -0.72, P = 0.01) as well as left (LV) and RV stroke volume (SV) response to pharmacological stress (r = -0.72, P = 0.02; and r = -0.64, P = 0.04; respectively), Furthermore, older age was associated with decreased RV E/A volume ratio and increased pulmonary late diastolic forward flow percentage (r = 0-0.65, P = 0.04, r = 0.66, P = 0.03, respectively). RV E/A volume ratio positively correlated with RV-SV response to DS-MRI (r = 0.77, P = 0.009). and O(2)-pulse during physical stress correlated with biventricular SV response to DS-MRI. No RV or LV ventricular myocardial fibrosis was detected.CONCLUSIONSIn PAIVS patients after biventricular repair exercise capacity and cardiac reserve decrease with age. These findings appear to be related to impaired diastolic RV function and decreased RV filling, indicating that the function of the relatively small RV deteriorates with tim

VaPER-Studie: Strikte Einhaltung der -6°-Kopftieflage in Bettruhe - Eine Verbesserung des Bettruhe-Modells?

Einleitung: Im Herbst 2017 wurde eine Bettruhestudie mit dem Titel “Medium-term Bed Rest Study - VIIP and Psychological :envihab Research Study (VaPER)” als gemeinsames Projekt der NASA und des DLR in Köln durchgeführt. Hauptziel dieser Studie war es unter Simulation von physiologischen Effekten der Schwerelosigkeit, in dem Fall 30-tägiger Bettruhe in -6°-Kopftieflage, Einflüsse auf Anatomie und Physiologie des Gehirns sowie des Auges zu untersuchen. Seit 2011 bekannt wurde, dass bei einzelnen Astronauten nach ihrer Rückkehr aus mehrmonatiger Mission auf der ISS Augenveränderungen festgestellt worden sind (1), das sogenannte SANS, das Spaceflight Associated Neuroocular Syndrome (früher VIIP-Syndrom), steht die Erforschung dieser Augenveränderung verstärkt im Fokus, so auch bei der VaPER-Studie. Die Raumfahrt-Medizin bedient sich zur Erforschung der Auswirkungen von Schwerlosigkeit auf den menschlichen Körper auf der Erde seit Jahrzehnten eines Modells für Mikrogravitations-Simulation, der Bettruhe in -6° Kopftieflage (Head-Down-Tilt=HDT). Die strenge Einhaltung dieser Form der Bettruhe führt zu vergleichbaren physiologischen Auswirkungen im menschlichen Körper wie sie in realer Schwerelosigkeit beobachtet werden. Bei der VaPER-Studie wurde dieses Modell der Bettruhe nun mit erhöhtem CO2-Gehalt (0,5%) in der Raumluft kombiniert. Auf der ISS, der Internationalen Weltraumstation, herrschen generell hohe Kohlendioxid-Konzentrationen vor, diese können bis zu 0,7% betragen (zum Vergleich: die CO2- Konzentration in der Erdatmosphäre liegt bei 0,04%). Fragestellung: Erhöhte CO2-Konzentrationen (Hyperkapnie) in Mikrogravitation verstärken die zerebrale Durchblutung, die das intrakraniale Blutvolumen (2, 3) und den intrakraniellen Druck (4) erhöhen können. Wenn nun erhöhte CO2-Konzentrationen, wie auf der ISS üblich, zusätzlichen Einfluss auf die durch Schwerlosigkeit bedingte kraniale Flüssigkeitsverschiebung haben, könnte dadurch der intrakraniale Druck und damit das Risiko der Entstehung des SANS ggf. weiter erhöht werden. Im Gegensatz zu echter Schwerelosigkeit wirkt in HDT-Bettruhe nach wie vor der Gravitationsvektor, was zu abweichenden physiologischen Effekten führen kann. Bei Studien in Kopftieflage konnten bisher keine zerebralen oder ophthalmologischen Befunde wie bei von SANS betroffenen Astronauten beobachtet werden. Möglicherweise reicht aber `-6° HDT´ als Modell allein nicht aus, um diese Effekte auch am Boden zu erzeugen. Dies kann auch dadurch bedingt sein, dass Bettruhestudien-Probanden bisher generell Kissen verwendet haben, die eine Flüssigkeitsverschiebung in den Kopf möglicherweise abgeschwächt haben können. Steilere HDT-Neigungswinkel zur Erzeugung der Erhöhung des intrakranialen Blutvolumens sind bei Langzeit-Bettruhestudien nicht umsetzbar. Folglich sollte in der VaPER-Studie herausgefunden werden, ob das Bettruhemodell für SANS-bezogene Forschung verbessert werden kann, indem die CO2-Konzentration in der Atmosphäre erhöht und gleichzeitig die Bettruheposition in -6° HDT streng eingehalten wird. Methodik: Während der VaPER-Studie war den Probanden so erstmals keine Kissennutzung erlaubt, mit Ausnahme eines sehr dünnen Kissens beim Liegen auf der Seite. Die Probanden wurden während der gesamten Bettruhe durchgehend 24 Stunden kameraüberwacht und lückenlos auf strenge Einhaltung kontrolliert. Für die erfolgreiche Durchführung von Bettruhestudien ist die Adhärenz der Probanden äußerst wichtig. Voraussetzung hierfür ist u.a. ein sorgfältiges und umfassendes Screening der Studien-Bewerber vor Studieneinschluss, auch in Bezug auf psychologische Aspekte. Zum anderen ist neben der umfangreichen medizinischen Betreuung und der hohen wissenschaftlichen Expertise der beteiligtenExperimentatoren die Qualität der operationellen Umsetzung für die Durchführung von Langzeitbettruhestudien von großer Bedeutung. So ist in der hochmodern und vielseitig ausgestatteten Großforschungsanlage :envihab des Instituts für Luft- und Raumfahrtmedizin des DLR auch eine gute soziale Atmosphäre während der stationären Phase der Bettruhestudien für deren Erfolg essentiell, was die sehr niedrige Abbruchrate der Studienteilnehmer seit Jahren beweist und die durch die DLR Mitarbeiter in besonderem Maße umgesetzt wird. Schlussfolgerungen: Während der gesamten Studie zeigten alle Probanden eine sehr hohe Adhärenz und hielten die strikte -6° Kopftieflage ohne Einschränkungen ein. Die strikte -6° Kopftieflage verbunden mit der Erhöhung der CO2-Konzentration in der Raumluft auf 0,5% führte somit zu einer Verbesserung des Modells zur Erforschung der Effekte von Schwerelosigkeit. Zukünftige Studien müssen zeigen, ob allein strenge -6°- HDT-Bettruhe, Hyperkapnie oder beides in Kombination SANS-ähnliche Effekte hervorrufen, wie sie auch vereinzelt bei der VaPER-Studie beobachtet wurden

Evaluating the systemic right ventricle by CMR: the importance of consistent and reproducible delineation of the cavity

Contains fulltext : 70334.pdf (publisher's version ) (Open Access)BACKGROUND: The method used to delineate the boundary of the right ventricle (RV), relative to the trabeculations and papillary muscles in cardiovascular magnetic resonance (CMR) ventricular volume analysis, may matter more when these structures are hypertrophied than in individuals with normal cardiovascular anatomy. This study aimed to compare two methods of cavity delineation in patients with systemic RV. METHODS: Twenty-nine patients (mean age 34.7 +/- 12.4 years) with a systemic RV (12 with congenitally corrected transposition of the great arteries (ccTGA) and 17 with atrially switched (TGA) underwent CMR. We compared measurements of systemic RV volumes and function using two analysis protocols. The RV trabeculations and papillary muscles were either included in the calculated blood volume, the boundary drawn immediately within the apparently compacted myocardial layer, or they were manually outlined and excluded. RV stroke volume (SV) calculated using each method was compared with corresponding left ventricular (LV) SV. Additionally, we compared the differences in analysis time, and in intra- and inter-observer variability between the two methods. Paired samples t-test was used to test for differences in volumes, function and analysis time between the two methods. Differences in intra- and inter-observer reproducibility were tested using an extension of the Bland-Altman method. RESULTS: The inclusion of trabeculations and papillary muscles in the ventricular volume resulted in higher values for systemic RV end diastolic volume (mean difference 28.7 +/- 10.6 ml, p < 0.001) and for end systolic volume (mean difference 31.0 +/- 11.5 ml, p < 0.001). Values for ejection fraction were significantly lower (mean difference -7.4 +/- 3.9%, p < 0.001) if structures were included. LV SV did not differ significantly from RV SV for both analysis methods (p = NS). Including structures resulted in shorter analysis time (p < 0.001), and showed better inter-observer reproducibility for ejection fraction (p < 0.01). CONCLUSION: The choice of method for systemic RV cavity delineation significantly affected volume measurements, given the CMR acquisition and analysis systems used. We recommend delineation outside the trabeculations for routine clinical measurements of systemic RV volumes as this approach took less time and gave more reproducible measurements