@article{BiegstraatenArngrimssonBarbeyetal.2015, author = {Biegstraaten, Marieke and Arngr{\´i}msson, Reynir and Barbey, Frederic and Boks, Lut and Cecchi, Franco and Deegan, Patrick B and Feldt-Rasmussen, Ulla and Geberhiwot, Tarekegn and Germain, Dominique P and Hendriksz, Chris and Hughes, Derralynn A and Kantola, Ilkka and Karabul, Nesrin and Lavery, Christine and Linthorst, Gabor E and Mehta, Atul and van de Mheen, Erica and Oliveira, Jo{\~a}o P and Parini, Rossella and Ramaswami, Uma and Rudnicki, Michael and Serra, Andreas and Sommer, Claudia and Sunder-Plassmann, Gere and Svarstad, Einar and Sweeb, Annelies and Terryn, Wim and Tylki-Szymanska, Anna and T{\o}ndel, Camilla and Vujkovac, Bojan and Weidemann, Frank and Wijburg, Frits A and Woolfson, Peter and Hollak, Carla EM}, title = {Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document}, series = {Orphanet Journal of Rare Diseases}, volume = {10}, journal = {Orphanet Journal of Rare Diseases}, number = {36}, doi = {10.1186/s13023-015-0253-6}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-175374}, year = {2015}, abstract = {Introduction: Fabry disease (FD) is a lysosomal storage disorder resulting in progressive nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or attenuate disease progression. Since administration is burdensome and expensive, appropriate use is mandatory. We aimed to define European consensus recommendations for the initiation and cessation of ERT in patients with FD. Methods: A Delphi procedure was conducted with an online survey (n = 28) and a meeting (n = 15). Patient organization representatives were present at the meeting to give their views. Recommendations were accepted with ≥75\% agreement and no disagreement. Results: For classically affected males, consensus was achieved that ERT is recommended as soon as there are early clinical signs of kidney, heart or brain involvement, but may be considered in patients of ≥16 years in the absence of clinical signs or symptoms of organ involvement. Classically affected females and males with non-classical FD should be treated as soon as there are early clinical signs of kidney, heart or brain involvement, while treatment may be considered in females with non-classical FD with early clinical signs that are considered to be due to FD. Consensus was achieved that treatment should not be withheld from patients with severe renal insufficiency (GFR < 45 ml/min/1.73 m\(^{2}\)) and from those on dialysis or with cognitive decline, but carefully considered on an individual basis. Stopping ERT may be considered in patients with end stage FD or other co-morbidities, leading to a life expectancy of <1 year. In those with cognitive decline of any cause, or lack of response for 1 year when the sole indication for ERT is neuropathic pain, stopping ERT may be considered. Also, in patients with end stage renal disease, without an option for renal transplantation, in combination with advanced heart failure (NYHA class IV), cessation of ERT should be considered. ERT in patients who are non-compliant or fail to attend regularly at visits should be stopped. Conclusion: The recommendations can be used as a benchmark for initiation and cessation of ERT, although final decisions should be made on an individual basis. Future collaborative efforts are needed for optimization of these recommendations.}, language = {en} } @article{KraemerBijnensStoerketal.2015, author = {Kr{\"a}mer, Johannes and Bijnens, Bart and St{\"o}rk, Stefan and Ritter, Christian O. and Liu, Dan and Ertl, Georg and Wanner, Christoph and Weidemann, Frank}, title = {Left ventricular geometry and blood pressure as predictors of adverse progression of Fabry cardiomyopathy}, series = {PLoS ONE}, volume = {10}, journal = {PLoS ONE}, number = {11}, doi = {10.1371/journal.pone.0140627}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-145131}, pages = {e0140627}, year = {2015}, abstract = {Background In spite of several research studies help to describe the heart in Fabry disease (FD), the cardiomyopathy is not entirely understood. In addition, the impact of blood pressure and alterations in geometry have not been systematically evaluated. Methods In 74 FD patients (mean age 36±12 years; 45 females) the extent of myocardial fibrosis and its progression were quantified using cardiac magnetic-resonance-imaging with late enhancement technique (LE). Results were compared to standard echocardiography complemented by 2D-speckle-tracking, 3D-sphericity-index (SI) and standardized blood pressure measurement. At baseline, no patient received enzyme replacement therapy (ERT). After 51±24 months, a follow-up examination was performed. Results Systolic blood pressure (SBP) was higher in patients with vs. without LE: 123±17 mmHg vs. 115±13 mmHg; P = 0.04. A positive correlation was found between SI and the amount of LE-positive myocardium (r = 0.51; P<0.001) indicating an association of higher SI in more advanced stages of the cardiomyopathy. SI at baseline was positively associated with the increase of LE-positive myocardium during follow-up. The highest SBP (125±19 mmHg) and also the highest SI (0.32±0.05) was found in the subgroup with a rapidly increasing LE (ie, ≥0.2\% per year; n = 16; P = 0.04). Multivariate logistic regression analysis including SI, SBP, EF, left ventricular volumes, wall thickness and NT-proBNP adjusted for age and sex showed SI as the most powerful parameter to detect rapid progression of LE (AUC = 0.785; P<0.05). Conclusions LV geometry as assessed by the sphericity index is altered in relation to the stage of the Fabry cardiomyopathy. Although patients with FD are not hypertensive, the SBP has a clear impact on the progression of the cardiomyopathy.}, language = {en} } @article{GassenmaierPetritschKunzetal.2015, author = {Gassenmaier, Tobias and Petritsch, Bernhard and Kunz, Andreas S. and Gkaniatsas, Spyridon and Gaudron, Philipp D. and Weidemann, Frank and Nordbeck, Peter and Beer, Meinrad}, title = {Long term evolution of MRI characteristics in a case of atypical left lateral wall hypertrophic cardiomyopathy}, series = {World Journal of Cardiology}, volume = {7}, journal = {World Journal of Cardiology}, number = {6}, doi = {10.4330/wjc.v7.i6.357}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-124934}, pages = {357-360}, year = {2015}, abstract = {We are reporting a long-time magnetic resonance imaging (MRI) follow-up in a rare case of cardiac left lateral wall hypertrophy. Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disorder and a significant cause of sudden cardiac death. Cardiac magnetic resonance (CMR) imaging can be a valuable tool for assessment of detailed information on size, localization, and tissue characteristics of hypertrophied myocardium. However, there is still little knowledge of long-term evolution of HCM as visualized by magnetic resonance imaging. Recently, our group reported a case of left lateral wall HCM as a rare variant of the more common forms, such as septal HCM, or apical HCM. As we now retrieved an old cardiac MRI acquired in this patient more than 20 years ago, we are able to provide the thrilling experience of an ultra-long MRI follow-up presentation in this rare case of left lateral wall hypertrophy. Furthermore, this case outlines the tremendous improvements in imaging quality within the last two decades of CMR imaging.}, language = {en} } @article{LiuHuPelzeretal.2015, author = {Liu, Dan and Hu, Kai and Pelzer, Heinz-Theo and St{\"o}rk, Stefan and Weidemann, Frank}, title = {Journey of a patient with chronic thromboembolic pulmonary hypertension}, series = {European Journal of Medical Research}, volume = {20}, journal = {European Journal of Medical Research}, number = {20}, doi = {10.1186/s40001-015-0112-x}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-125009}, year = {2015}, abstract = {Right ventricle (RV) dysfunction is a key outcome determinant and a leading cause of death for patients with chronic thromboembolic pulmonary hypertension (CTEPH). In this report, we followed the 5-year clinical journey of a patient with CTEPH. The tricuspid pressure gradient was significantly increased in the early phase of CTEPH and "normalized" at the late phase of this patient's clinical journey, but this "normalized" gradient is not a positive treatment response but rather an ominous sign of advancing right heart failure owing to an exhaustion of RV contractile function. Thus, appropriate interpretation of the tricuspid pressure gradient change is of importance for assessing RV dysfunction and treatment outcome during follow-up in patients with CTEPH. Besides systolic pulmonary artery pressure (SPAP), other RV functional parameters such as tricuspid annular plane systolic excursion, RV fractional area change, and RV longitudinal strain, together with clinical markers, may provide additional guidance regarding functional improvement or progression in patients with CTEPH.}, language = {en} }