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2. Prediction of diagnosis and diastolic filling pressure by AI-enhanced cardiac MRI: a modelling study of hospital data

Author

Lehmann, David Hermann, primary, Gomes, Bruna, additional, Vetter, Niklas, additional, Braun, Olivia, additional, Amr, Ali, additional, Hilbel, Thomas, additional, Müller, Jens, additional, Köthe, Ulrich, additional, Reich, Christoph, additional, Kayvanpour, Elham, additional, Sedaghat-Hamedani, Farbod, additional, Meder, Manuela, additional, Haas, Jan, additional, Ashley, Euan, additional, Rottbauer, Wolfgang, additional, Felbel, Dominik, additional, Bekeredjian, Raffi, additional, Mahrholdt, Heiko, additional, Keller, Andreas, additional, Ong, Peter, additional, Seitz, Andreas, additional, Hund, Hauke, additional, Geis, Nicolas, additional, André, Florian, additional, Engelhardt, Sandy, additional, Katus, Hugo A, additional, Frey, Norbert, additional, Heuveline, Vincent, additional, and Meder, Benjamin, additional

Published
2024
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4. Controlling my genome with my smartphone: first clinical experiences of the PROMISE system

Author

Amr, Ali, Hinderer, Marc, Griebel, Lena, Deuber, Dominic, Egger, Christoph, Sedaghat-Hamedani, Farbod, Kayvanpour, Elham, Huhn, Daniel, Haas, Jan, Frese, Karen, Schweig, Marc, Marnau, Ninja, Krämer, Annika, Durand, Claudia, Battke, Florian, Prokosch, Hans-Ulrich, Backes, Michael, Keller, Andreas, Schröder, Dominique, Katus, Hugo A., Frey, Norbert, and Meder, Benjamin

Published
2022
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5. NIMA-related kinase 9 regulates the phosphorylation of the essential myosin light chain in the heart

Author

Müller, Marion, Eghbalian, Rose, Boeckel, Jes-Niels, Frese, Karen S., Haas, Jan, Kayvanpour, Elham, Sedaghat-Hamedani, Farbod, Lackner, Maximilian K., Tugrul, Oguz F., Ruppert, Thomas, Tappu, Rewati, Martins Bordalo, Diana, Kneuer, Jasmin M., Piekarek, Annika, Herch, Sabine, Schudy, Sarah, Keller, Andreas, Grammes, Nadja, Bischof, Cornelius, Klinke, Anna, Cardoso-Moreira, Margarida, Kaessmann, Henrik, Katus, Hugo A., Frey, Norbert, Steinmetz, Lars M., and Meder, Benjamin

Published
2022
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6. Prognostic Value of Circulating Fibrosis Biomarkers in Dilated Cardiomyopathy (DCM): Insights into Clinical Outcomes.

Author

Kayvanpour, Elham, Sedaghat-Hamedani, Farbod, Li, Daniel Tian, Miersch, Tobias, Weis, Tanja, Hoefer, Imo, Frey, Norbert, and Meder, Benjamin

Subjects
*CARDIAC arrest, *DILATED cardiomyopathy, *HEART failure, *HEART fibrosis, *PROGNOSIS
Abstract

Background: Dilated cardiomyopathy (DCM) involves myocardial remodeling, characterized by significant fibrosis and extracellular matrix expansion. These changes impair heart function, increasing the risk of heart failure and sudden cardiac death. This study investigates the prognostic value of circulating fibrosis biomarkers as a less invasive method in DCM patients. Methods: Plasma samples from 185 patients with confirmed DCM were analyzed to measure 13 circulating biomarkers using Luminex bead-based multiplex assays and ELISA. The prognostic value of these biomarkers was evaluated concerning heart failure-associated events and all-cause mortality. Results: Elevated MMP-2 levels (>1519.3 ng/mL) were linked to older age, higher diabetes prevalence, lower HDL, increased NT-proBNP and hs-TnT levels, and severe systolic dysfunction. High TIMP-1 levels (>124.9 ng/mL) correlated with elevated NT-proBNP, more atrial fibrillation, reduced exercise capacity, and larger right ventricles. Increased GDF-15 levels (>1213.9 ng/mL) were associated with older age, systemic inflammation, renal impairment, and poor exercise performance. Elevated OPN levels (>81.7 ng/mL) were linked to higher serum creatinine and NT-proBNP levels. Over a median follow-up of 32.4 months, higher levels of these biomarkers predicted worse outcomes, including increased risks of heart failure-related events and mortality. Conclusions: Circulating fibrosis biomarkers, particularly MMP-2, TIMP-1, GDF-15, and OPN, are valuable prognostic tools in DCM. They reflect the severity of myocardial remodeling and systemic disease burden, aiding in risk stratification and therapeutic intervention. Integrating these biomarkers into clinical practice could improve DCM management and patient prognosis. [ABSTRACT FROM AUTHOR]

Published
2024
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8. A Self-Taught Artificial Agent for Multi-Physics Computational Model Personalization

Author

Neumann, Dominik, Mansi, Tommaso, Itu, Lucian, Georgescu, Bogdan, Kayvanpour, Elham, Sedaghat-Hamedani, Farbod, Amr, Ali, Haas, Jan, Katus, Hugo, Meder, Benjamin, Steidl, Stefan, Hornegger, Joachim, and Comaniciu, Dorin

Subjects
Computer Science - Computational Engineering, Finance, and Science, Computer Science - Artificial Intelligence
Abstract

Personalization is the process of fitting a model to patient data, a critical step towards application of multi-physics computational models in clinical practice. Designing robust personalization algorithms is often a tedious, time-consuming, model- and data-specific process. We propose to use artificial intelligence concepts to learn this task, inspired by how human experts manually perform it. The problem is reformulated in terms of reinforcement learning. In an off-line phase, Vito, our self-taught artificial agent, learns a representative decision process model through exploration of the computational model: it learns how the model behaves under change of parameters. The agent then automatically learns an optimal strategy for on-line personalization. The algorithm is model-independent; applying it to a new model requires only adjusting few hyper-parameters of the agent and defining the observations to match. The full knowledge of the model itself is not required. Vito was tested in a synthetic scenario, showing that it could learn how to optimize cost functions generically. Then Vito was applied to the inverse problem of cardiac electrophysiology and the personalization of a whole-body circulation model. The obtained results suggested that Vito could achieve equivalent, if not better goodness of fit than standard methods, while being more robust (up to 11% higher success rates) and with faster (up to seven times) convergence rate. Our artificial intelligence approach could thus make personalization algorithms generalizable and self-adaptable to any patient and any model., Comment: Submitted to Medical Image Analysis, Elsevier

Published
2016

9. microRNA neural networks improve diagnosis of acute coronary syndrome (ACS)

Author

Kayvanpour, Elham, Gi, Weng-Tein, Sedaghat-Hamedani, Farbod, Lehmann, David H., Frese, Karen S., Haas, Jan, Tappu, Rewati, Samani, Omid Shirvani, Nietsch, Rouven, Kahraman, Mustafa, Fehlmann, Tobias, Müller-Hennessen, Matthias, Weis, Tanja, Giannitsis, Evangelos, Niederdränk, Torsten, Keller, Andreas, Katus, Hugo A., and Meder, Benjamin

Published
2021
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10. Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

Author

Tadros, Rafik, Francis, Catherine, Xu, Xiao, Vermeer, Alexa M. C., Harper, Andrew R., Huurman, Roy, Kelu Bisabu, Ken, Walsh, Roddy, Hoorntje, Edgar T., te Rijdt, Wouter P., Buchan, Rachel J., van Velzen, Hannah G., van Slegtenhorst, Marjon A., Vermeulen, Jentien M., Offerhaus, Joost Allard, Bai, Wenjia, de Marvao, Antonio, Lahrouchi, Najim, Beekman, Leander, Karper, Jacco C., Veldink, Jan H., Kayvanpour, Elham, Pantazis, Antonis, Baksi, A. John, Whiffin, Nicola, Mazzarotto, Francesco, Sloane, Geraldine, Suzuki, Hideaki, Schneider-Luftman, Deborah, Elliott, Paul, Richard, Pascale, Ader, Flavie, Villard, Eric, Lichtner, Peter, Meitinger, Thomas, Tanck, Michael W. T., van Tintelen, J. Peter, Thain, Andrew, McCarty, David, Hegele, Robert A., Roberts, Jason D., Amyot, Julie, Dubé, Marie-Pierre, Cadrin-Tourigny, Julia, Giraldeau, Geneviève, L’Allier, Philippe L., Garceau, Patrick, Tardif, Jean-Claude, Boekholdt, S. Matthijs, Lumbers, R. Thomas, Asselbergs, Folkert W., Barton, Paul J. R., Cook, Stuart A., Prasad, Sanjay K., O’Regan, Declan P., van der Velden, Jolanda, Verweij, Karin J. H., Talajic, Mario, Lettre, Guillaume, Pinto, Yigal M., Meder, Benjamin, Charron, Philippe, de Boer, Rudolf A., Christiaans, Imke, Michels, Michelle, Wilde, Arthur A. M., Watkins, Hugh, Matthews, Paul M., Ware, James S., and Bezzina, Connie R.

Published
2021
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11. Assessing the Applicability of Cardiac Myosin Inhibitors for Hypertrophic Cardiomyopathy Management in a Large Single Center Cohort.

Author

Amr, Ali, Kayvanpour, Elham, Reich, Christoph, Koelemen, Jan, Asokan, Shamily, Frey, Norbert, Meder, Benjamin, and Sedaghat-Hamedani, Farbod

Abstract

Background: Cardiac myosin inhibitors (CMIs), including Mavacamten and Aficamten, have emerged as a groundbreaking treatment for hypertrophic cardiomyopathy (HCM). The results from phase 2 and 3 randomized clinical trials for both drugs have showed promising outcomes. However, the highly selective patient recruitment for these trials raises questions about the generalizability of the observed positive effects across broader patient populations suffering from HCM. Methods: A retrospective cohort study at University Hospital Heidelberg included 404 HCM patients. Baseline assessments included family history, electrocardiograms (ECGs), and advanced cardiac imaging, to ensure the exclusion of secondary causes of left ventricular hypertrophy. Results: Among the HCM patients evaluated, only a small percentage met the inclusion criteria for recent CMI trials: 10.4% for EXPLORER-HCM and 4.7% for SEQUOIA-HCM. The predominant exclusion factor was the stringent left ventricular outflow tract (LVOT) gradient requirement. Conclusions: This study highlights a significant discrepancy between patient demographics in clinical trials and those encountered in routine HCM clinical practice. Despite promising results from the initial randomized clinical trials that led to the approval of Mavacamten, the selected patient population only represents a small part of the HCM patient cohort seen in routine clinics. This study advocates for further expanded randomized clinical trials with broader inclusion criteria to represent diverse primary HCM patient populations. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Identification and regulation of the long non-coding RNA Heat2 in heart failure

Author

Boeckel, Jes-Niels, Perret, Maya F., Glaser, Simone F., Seeger, Timon, Heumüller, Andreas W., Chen, Wei, John, David, Kokot, Karoline E., Katus, Hugo A., Haas, Jan, Lackner, Maximilian K., Kayvanpour, Elham, Grabe, Niels, Dieterich, Christoph, von Haehling, Stephan, Ebner, Nicole, Hünecke, Sabine, Leuschner, Florian, Fichtlscherer, Stephan, Meder, Benjamin, Zeiher, Andreas M., Dimmeler, Stefanie, and Keller, Till

Published
2019
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15. Improving sudden cardiac death risk stratification in hypertrophic cardiomyopathy using established clinical variables and genetic information

Author

Amr, Ali, primary, Koelemen, Jan, additional, Reich, Christoph, additional, Sedaghat-Hamedani, Farbod, additional, Kayvanpour, Elham, additional, Haas, Jan, additional, Frese, Karen, additional, Lehmann, David, additional, Katus, Hugo A., additional, Frey, Norbert, additional, and Meder, Benjamin, additional

Published
2023
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16. Vito – A Generic Agent for Multi-physics Model Personalization: Application to Heart Modeling

Author

Neumann, Dominik, Mansi, Tommaso, Itu, Lucian, Georgescu, Bogdan, Kayvanpour, Elham, Sedaghat-Hamedani, Farbod, Haas, Jan, Katus, Hugo, Meder, Benjamin, Steidl, Stefan, Hornegger, Joachim, Comaniciu, Dorin, Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Weikum, Gerhard, Series editor, Navab, Nassir, editor, Hornegger, Joachim, editor, Wells, William M., editor, and Frangi, Alejandro, editor

Published
2015
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17. Estimation of Regional Electrical Properties of the Heart from 12-Lead ECG and Images

Author

Seegerer, Philipp, Mansi, Tommaso, Jolly, Marie-Pierre, Neumann, Dominik, Georgescu, Bogdan, Kamen, Ali, Kayvanpour, Elham, Amr, Ali, Sedaghat-Hamedani, Farbod, Haas, Jan, Katus, Hugo, Meder, Benjamin, Comaniciu, Dorin, Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Weikum, Gerhard, Series editor, Camara, Oscar, editor, Mansi, Tommaso, editor, Pop, Mihaela, editor, Rhode, Kawal, editor, Sermesant, Maxime, editor, and Young, Alistair, editor

Published
2015
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19. Robust Image-Based Estimation of Cardiac Tissue Parameters and Their Uncertainty from Noisy Data

Author

Neumann, Dominik, Mansi, Tommaso, Georgescu, Bogdan, Kamen, Ali, Kayvanpour, Elham, Amr, Ali, Sedaghat-Hamedani, Farbod, Haas, Jan, Katus, Hugo, Meder, Benjamin, Hornegger, Joachim, Comaniciu, Dorin, Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Kobsa, Alfred, Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Nierstrasz, Oscar, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Weikum, Gerhard, Series editor, Golland, Polina, editor, Hata, Nobuhiko, editor, Barillot, Christian, editor, Hornegger, Joachim, editor, and Howe, Robert, editor

Published
2014
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21. Deep phenotyping of two preclinical mouse models and a cohort of RBM20 mutation carriers reveals no sex-dependent disease severity in RBM20 cardiomyopathy

Author

Lennermann, David C., primary, Pepin, Mark E., additional, Grosch, Markus, additional, Konrad, Laura, additional, Kemmling, Elena, additional, Hartmann, Joshua, additional, Nolte, Janica L., additional, Clauder-Münster, Sandra, additional, Kayvanpour, Elham, additional, Sedaghat-Hamedani, Farbod, additional, Haas, Jan, additional, Meder, Benjamin, additional, van den Boogaard, Malou, additional, Amin, Ahmad S., additional, Dewenter, Matthias, additional, Krüger, Marcus, additional, Steinmetz, Lars M., additional, Backs, Johannes, additional, and van den Hoogenhof, Maarten M. G., additional

Published
2022
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24. Fast Data-Driven Calibration of a Cardiac Electrophysiology Model from Images and ECG

Author

Zettinig, Oliver, Mansi, Tommaso, Georgescu, Bogdan, Kayvanpour, Elham, Sedaghat-Hamedani, Farbod, Amr, Ali, Haas, Jan, Steen, Henning, Meder, Benjamin, Katus, Hugo, Navab, Nassir, Kamen, Ali, Comaniciu, Dorin, Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Doug, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, Mori, Kensaku, editor, Sakuma, Ichiro, editor, Sato, Yoshinobu, editor, Barillot, Christian, editor, and Navab, Nassir, editor

Published
2013
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25. From Medical Images to Fast Computational Models of Heart Electromechanics: An Integrated Framework towards Clinical Use

Author

Zettinig, Oliver, Mansi, Tommaso, Georgescu, Bogdan, Rapaka, Saikiran, Kamen, Ali, Haas, Jan, Frese, Karen S., Sedaghat-Hamedani, Farbod, Kayvanpour, Elham, Amr, Ali, Hardt, Stefan, Mereles, Derliz, Steen, Henning, Keller, Andreas, Katus, Hugo A., Meder, Benjamin, Navab, Nassir, Comaniciu, Dorin, Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Doug, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, Ourselin, Sébastien, editor, Rueckert, Daniel, editor, and Smith, Nicolas, editor

Published
2013
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27. Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family

Author

Sedaghat-Hamedani, Farbod, primary, Rebs, Sabine, additional, Kayvanpour, Elham, additional, Zhu, Chenchen, additional, Amr, Ali, additional, Müller, Marion, additional, Haas, Jan, additional, Wu, Jingyan, additional, Steinmetz, Lars M., additional, Ehlermann, Philipp, additional, Streckfuss-Bömeke, Katrin, additional, Frey, Norbert, additional, and Meder, Benjamin, additional

Published
2022
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29. Genomic structural variations lead to dysregulation of important coding and non‐coding RNA species in dilated cardiomyopathy

Author

Haas, Jan, Mester, Stefan, Lai, Alan, Frese, Karen S, Sedaghat‐Hamedani, Farbod, Kayvanpour, Elham, Rausch, Tobias, Nietsch, Rouven, Boeckel, Jes‐Niels, Carstensen, Avisha, Völkers, Mirko, Dietrich, Carsten, Pils, Dietmar, Amr, Ali, Holzer, Daniel B, Martins Bordalo, Diana, Oehler, Daniel, Weis, Tanja, Mereles, Derliz, Buss, Sebastian, Riechert, Eva, Wirsz, Emil, Wuerstle, Maximilian, Korbel, Jan O, Keller, Andreas, Katus, Hugo A, Posch, Andreas E, and Meder, Benjamin

Published
2018
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30. VARS2 Depletion Leads to Activation of the Integrated Stress Response and Disruptions in Mitochondrial Fatty Acid Oxidation

Author

Kayvanpour, Elham, primary, Wisdom, Michael, additional, Lackner, Maximilian K., additional, Sedaghat-Hamedani, Farbod, additional, Boeckel, Jes-Niels, additional, Müller, Marion, additional, Eghbalian, Rose, additional, Dudek, Jan, additional, Doroudgar, Shirin, additional, Maack, Christoph, additional, Frey, Norbert, additional, and Meder, Benjamin, additional

Published
2022
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31. VARS2 Depletion Leads to Activation of the Integrated Stress Response and Disruptions in Mitochondrial Fatty Acid Oxidation

Author

Kayvanpour, Elham, Wisdom, Michael, Lackner, Maximilian K., Sedaghat-Hamedani, Farbod, Boeckel, Jes-Niels, Müller, Marion, Eghbalian, Rose, Dudek, Jan, Doroudgar, Shirin, Maack, Christoph, Frey, Norbert, Meder, Benjamin, Kayvanpour, Elham, Wisdom, Michael, Lackner, Maximilian K., Sedaghat-Hamedani, Farbod, Boeckel, Jes-Niels, Müller, Marion, Eghbalian, Rose, Dudek, Jan, Doroudgar, Shirin, Maack, Christoph, Frey, Norbert, and Meder, Benjamin

Abstract

Mutations in mitochondrial aminoacyl-tRNA synthetases (mtARSs) have been reported in patients with mitochondriopathies: most commonly encephalopathy, but also cardiomyopathy. Through a GWAS, we showed possible associations between mitochondrial valyl-tRNA synthetase (VARS2) dysregulations and non-ischemic cardiomyopathy. We aimed to investigate the possible consequences of VARS2 depletion in zebrafish and cultured HEK293A cells. Transient VARS2 loss-offunction was induced in zebrafish embryos using Morpholinos. The enzymatic activity of VARS2 was measured in VARS2-depleted cells via northern blot. Heterozygous VARS2 knockout was established in HEK293A cells using CRISPR/Cas9 technology. BN-PAGE and SDS-PAGE were used to investigate electron transport chain (ETC) complexes, and the oxygen consumption rate and extracellular acidification rate were measured using a Seahorse XFe96 Analyzer. The activation of the integrated stress response (ISR) and possible disruptions in mitochondrial fatty acid oxidation (FAO) were explored using RT-qPCR and western blot. Zebrafish embryos with transient VARS2 loss-of-function showed features of heart failure as well as indications of CNS and skeletal muscle involvements. The enzymatic activity of VARS2 was significantly reduced in VARS2-depleted cells. Heterozygous VARS2-knockout cells showed a rearrangement of ETC complexes in favor of complexes III2, III2 + IV, and supercomplexes without significant respiratory chain deficiencies. These cells also showed the enhanced activation of the ISR, as indicated by increased eIF-2 phosphorylation and a significant increase in the transcript levels of ATF4, ATF5, and DDIT3 (CHOP), as well as disruptions in FAO. The activation of the ISR and disruptions in mitochondrial FAO may underlie the adaptive changes in VARS2-depleted cells.

Published
2022

32. Deep phenotyping of two preclinical mouse models and a cohort of RBM20 mutation carriers reveals no sex-dependent disease severity in RBM20 cardiomyopathy

Author

Lennermann, David C., Pepin, Mark E., Grosch, Markus, Konrad, Laura, Kemmling, Elena, Hartmann, Joshua, Nolte, Janica L., Clauder-Muenster, Sandra, Kayvanpour, Elham, Sedaghat-Hamedani, Farbod, Haas, Jan, Meder, Benjamin, van den Boogaard, Malou, Amin, Ahmad S., Dewenter, Matthias, Krueger, Marcus, Steinmetz, Lars M., Backs, Johannes, van den Hoogenhof, Maarten M. G., Lennermann, David C., Pepin, Mark E., Grosch, Markus, Konrad, Laura, Kemmling, Elena, Hartmann, Joshua, Nolte, Janica L., Clauder-Muenster, Sandra, Kayvanpour, Elham, Sedaghat-Hamedani, Farbod, Haas, Jan, Meder, Benjamin, van den Boogaard, Malou, Amin, Ahmad S., Dewenter, Matthias, Krueger, Marcus, Steinmetz, Lars M., Backs, Johannes, and van den Hoogenhof, Maarten M. G.

Abstract

RBM20 cardiomyopathy is an arrhythmogenic form of dilated cardiomyopathy caused by mutations in the splicing factor RBM20. A recent study found a more severe phenotype in male patients with RBM20 cardiomyopathy patients than in female patients. Here, we aim to determine sex differences in an animal model of RBM20 cardiomyopathy and investigate potential underlying mechanisms. In addition, we aim to determine sex and gender differences in clinical parameters in a novel RBM20 cardiomyopa-thy patient cohort. We characterized an Rbm20 knockout (KO) mouse model, and show that splicing of key RBM20 targets, car-diac function, and arrhythmia susceptibility do not differ between sexes. Next, we performed deep phenotyping of these mice, and show that male and female Rbm20-KO mice possess transcriptomic and phosphoproteomic differences. Hypothesizing that these differences may influence the heart's ability to compensate for stress, we exposed Rbm20-KO mice to acute catecholami-nergic stimulation and again found no functional differences. We also replicate the lack of functional differences in a mouse model with the Rbm20-R636Q mutation. Lastly, we present a patient cohort of 33 RBM20 cardiomyopathy patients and show that these patients do not possess sex and gender differences in disease severity. Current mouse models of RBM20 cardiomy-opathy show more pronounced changes in gene expression and phosphorylation of cardiac proteins in male mice, but no sex differences in cardiac morphology and function. Moreover, other than reported before, male RBM20 cardiomyopathy patients do not present with worse cardiac function in a patient cohort from Germany and the Netherlands.NEW & NOTEWORTHY Optimal management of the cardiac disease is increasingly personalized, partly because of differences in outcomes between sexes. RBM20 cardiomyopathy has been described to be more severe in male patients, and this carries the risk that male patients are more scrutinized in the clinic than female p

Published
2022

33. Epigenome-Wide Association Study Identifies Cardiac Gene Patterning and a Novel Class of Biomarkers for Heart Failure

Author

Meder, Benjamin, Haas, Jan, Sedaghat-Hamedani, Farbod, Kayvanpour, Elham, Frese, Karen, Lai, Alan, Nietsch, Rouven, Scheiner, Christina, Mester, Stefan, Bordalo, Diana Martins, Amr, Ali, Dietrich, Carsten, Pils, Dietmar, Siede, Dominik, Hund, Hauke, Bauer, Andrea, Holzer, Daniel Benjamin, Ruhparwar, Arjang, Mueller-Hennessen, Matthias, Weichenhan, Dieter, Plass, Christoph, Weis, Tanja, Backs, Johannes, Wuerstle, Maximilian, Keller, Andreas, Katus, Hugo A., and Posch, Andreas E.

Published
2017
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35. Marathon-Induced Cardiac Strain as Model for the Evaluation of Diagnostic microRNAs for Acute Myocardial Infarction

Author

Shirvani Samani, Omid, primary, Scherr, Johannes, additional, Kayvanpour, Elham, additional, Haas, Jan, additional, Lehmann, David H., additional, Gi, Weng-Tein, additional, Frese, Karen S., additional, Nietsch, Rouven, additional, Fehlmann, Tobias, additional, Sandke, Steffi, additional, Weis, Tanja, additional, Keller, Andreas, additional, Katus, Hugo A., additional, Halle, Martin, additional, Frey, Norbert, additional, Meder, Benjamin, additional, and Sedaghat-Hamedani, Farbod, additional

Published
2021
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36. Identification of SCN5a p.C335R Variant in a Large Family with Dilated Cardiomyopathy and Conduction Disease

Author

Sedaghat-Hamedani, Farbod, primary, Rebs, Sabine, additional, El-Battrawy, Ibrahim, additional, Chasan, Safak, additional, Krause, Tobias, additional, Haas, Jan, additional, Zhong, Rujia, additional, Liao, Zhenxing, additional, Xu, Qiang, additional, Zhou, Xiaobo, additional, Akin, Ibrahim, additional, Zitron, Edgar, additional, Frey, Norbert, additional, Streckfuss-Bömeke, Katrin, additional, and Kayvanpour, Elham, additional

Published
2021
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38. Controlling my genome with my smartphone: first clinical experiences of the PROMISE system

Author

Amr, Ali, primary, Hinderer, Marc, additional, Griebel, Lena, additional, Deuber, Dominic, additional, Egger, Christoph, additional, Sedaghat-Hamedani, Farbod, additional, Kayvanpour, Elham, additional, Huhn, Daniel, additional, Haas, Jan, additional, Frese, Karen, additional, Schweig, Marc, additional, Marnau, Ninja, additional, Krämer, Annika, additional, Durand, Claudia, additional, Battke, Florian, additional, Prokosch, Hans-Ulrich, additional, Backes, Michael, additional, Keller, Andreas, additional, Schröder, Dominique, additional, Katus, Hugo A., additional, Frey, Norbert, additional, and Meder, Benjamin, additional

Published
2021
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39. A novel risk model for predicting potentially life-threatening arrhythmias in non-ischemic dilated cardiomyopathy (DCM-SVA risk)

Author

Kayvanpour, Elham, primary, Sammani, Arjan, additional, Sedaghat-Hamedani, Farbod, additional, Lehmann, David H., additional, Broezel, Alicia, additional, Koelemenoglu, Jan, additional, Chmielewski, Przemysław, additional, Curjol, Angelique, additional, Socie, Pierre, additional, Miersch, Tobias, additional, Haas, Jan, additional, Gi, Weng-Tein, additional, Richard, Pascale, additional, Płoski, Rafał, additional, Truszkowska, Grażyna, additional, Baas, Annette F., additional, Foss-Nieradko, Bogna, additional, Michalak, Ewa, additional, Stępień-Wojno, Małgorzata, additional, Zakrzewska-Koperska, Joanna, additional, Śpiewak, Mateusz, additional, Zieliński, Tomasz, additional, Villard, Eric, additional, te Riele, Anneline S.J.M., additional, Katus, Hugo A., additional, Frey, Norbert, additional, Bilińska, Zofia T., additional, Charron, Philippe, additional, Asselbergs, Folkert W., additional, and Meder, Benjamin, additional

Published
2021
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40. Atlas of the clinical genetics of human dilated cardiomyopathy

Author

Haas, Jan, Frese, Karen S., Peil, Barbara, Kloos, Wanda, Keller, Andreas, Nietsch, Rouven, Feng, Zhu, Müller, Sabine, Kayvanpour, Elham, Vogel, Britta, Sedaghat-Hamedani, Farbod, Lim, Wei-Keat, Zhao, Xiaohong, Fradkin, Dmitriy, Köhler, Doreen, Fischer, Simon, Franke, Jennifer, Marquart, Sabine, Barb, Ioana, Li, Daniel Tian, Amr, Ali, Ehlermann, Philipp, Mereles, Derliz, Weis, Tanja, Hassel, Sarah, Kremer, Andreas, King, Vanessa, Wirsz, Emil, Isnard, Richard, Komajda, Michel, Serio, Alessandra, Grasso, Maurizia, Syrris, Petros, Wicks, Eleanor, Plagnol, Vincent, Lopes, Luis, Gadgaard, Tenna, Eiskjær, Hans, Jørgensen, Mads, Garcia-Giustiniani, Diego, Ortiz-Genga, Martin, Crespo-Leiro, Maria G., Deprez, Rondal H. Lekanne Dit, Christiaans, Imke, van Rijsingen, Ingrid A., Wilde, Arthur A., Waldenstrom, Anders, Bolognesi, Martino, Bellazzi, Riccardo, Mörner, Stellan, Bermejo, Justo Lorenzo, Monserrat, Lorenzo, Villard, Eric, Mogensen, Jens, Pinto, Yigal M., Charron, Philippe, Elliott, Perry, Arbustini, Eloisa, Katus, Hugo A., and Meder, Benjamin

Published
2015
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42. A novel risk model for predicting potentially life-threatening arrhythmias in non-ischemic dilated cardiomyopathy (DCM-SVA risk)

Author

Verpleegafdeling Cardiologie, Onderzoek Precision medicine, Genetica, Genetica Klinische Genetica, Circulatory Health, Arts Assistenten Cardiologie, Team Medisch, Kayvanpour, Elham, Sammani, Arjan, Sedaghat-Hamedani, Farbod, Lehmann, David H., Broezel, Alicia, Koelemenoglu, Jan, Chmielewski, Przemysław, Curjol, Angelique, Socie, Pierre, Miersch, Tobias, Haas, Jan, Gi, Weng Tein, Richard, Pascale, Płoski, Rafał, Truszkowska, Grażyna, Baas, Annette F., Foss-Nieradko, Bogna, Michalak, Ewa, Stępień-Wojno, Małgorzata, Zakrzewska-Koperska, Joanna, Śpiewak, Mateusz, Zieliński, Tomasz, Villard, Eric, te Riele, Anneline S.J.M., Katus, Hugo A., Frey, Norbert, Bilińska, Zofia T., Charron, Philippe, Asselbergs, Folkert W., Meder, Benjamin, Verpleegafdeling Cardiologie, Onderzoek Precision medicine, Genetica, Genetica Klinische Genetica, Circulatory Health, Arts Assistenten Cardiologie, Team Medisch, Kayvanpour, Elham, Sammani, Arjan, Sedaghat-Hamedani, Farbod, Lehmann, David H., Broezel, Alicia, Koelemenoglu, Jan, Chmielewski, Przemysław, Curjol, Angelique, Socie, Pierre, Miersch, Tobias, Haas, Jan, Gi, Weng Tein, Richard, Pascale, Płoski, Rafał, Truszkowska, Grażyna, Baas, Annette F., Foss-Nieradko, Bogna, Michalak, Ewa, Stępień-Wojno, Małgorzata, Zakrzewska-Koperska, Joanna, Śpiewak, Mateusz, Zieliński, Tomasz, Villard, Eric, te Riele, Anneline S.J.M., Katus, Hugo A., Frey, Norbert, Bilińska, Zofia T., Charron, Philippe, Asselbergs, Folkert W., and Meder, Benjamin

Published
2021

43. Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

Author

Neurologen, Brain, Genetica, Circulatory Health, Onderzoek Vrouw Hart & Vaatziekten, Team Medisch, Tadros, Rafik, Francis, Catherine, Xu, Xiao, Vermeer, Alexa M.C., Harper, Andrew R., Huurman, Roy, Kelu Bisabu, Ken, Walsh, Roddy, Hoorntje, Edgar T., te Rijdt, Wouter P., Buchan, Rachel J., van Velzen, Hannah G., van Slegtenhorst, Marjon A., Vermeulen, Jentien M., Offerhaus, Joost Allard, Bai, Wenjia, de Marvao, Antonio, Lahrouchi, Najim, Beekman, Leander, Karper, Jacco C., Veldink, Jan H., Kayvanpour, Elham, Pantazis, Antonis, Baksi, A. John, Whiffin, Nicola, Mazzarotto, Francesco, Sloane, Geraldine, Suzuki, Hideaki, Schneider-Luftman, Deborah, Elliott, Paul, Richard, Pascale, Ader, Flavie, Villard, Eric, Lichtner, Peter, Meitinger, Thomas, Tanck, Michael W.T., van Tintelen, J. Peter, Thain, Andrew, McCarty, David, Hegele, Robert A., Roberts, Jason D., Amyot, Julie, Dubé, Marie Pierre, Cadrin-Tourigny, Julia, Giraldeau, Geneviève, L’Allier, Philippe L., Garceau, Patrick, Tardif, Jean Claude, Boekholdt, S. Matthijs, Lumbers, R. Thomas, Asselbergs, Folkert W., Barton, Paul J.R., Cook, Stuart A., Prasad, Sanjay K., O’Regan, Declan P., van der Velden, Jolanda, Verweij, Karin J.H., Talajic, Mario, Lettre, Guillaume, Pinto, Yigal M., Meder, Benjamin, Charron, Philippe, de Boer, Rudolf A., Christiaans, Imke, Michels, Michelle, Wilde, Arthur A.M., Watkins, Hugh, Matthews, Paul M., Ware, James S., Bezzina, Connie R., Neurologen, Brain, Genetica, Circulatory Health, Onderzoek Vrouw Hart & Vaatziekten, Team Medisch, Tadros, Rafik, Francis, Catherine, Xu, Xiao, Vermeer, Alexa M.C., Harper, Andrew R., Huurman, Roy, Kelu Bisabu, Ken, Walsh, Roddy, Hoorntje, Edgar T., te Rijdt, Wouter P., Buchan, Rachel J., van Velzen, Hannah G., van Slegtenhorst, Marjon A., Vermeulen, Jentien M., Offerhaus, Joost Allard, Bai, Wenjia, de Marvao, Antonio, Lahrouchi, Najim, Beekman, Leander, Karper, Jacco C., Veldink, Jan H., Kayvanpour, Elham, Pantazis, Antonis, Baksi, A. John, Whiffin, Nicola, Mazzarotto, Francesco, Sloane, Geraldine, Suzuki, Hideaki, Schneider-Luftman, Deborah, Elliott, Paul, Richard, Pascale, Ader, Flavie, Villard, Eric, Lichtner, Peter, Meitinger, Thomas, Tanck, Michael W.T., van Tintelen, J. Peter, Thain, Andrew, McCarty, David, Hegele, Robert A., Roberts, Jason D., Amyot, Julie, Dubé, Marie Pierre, Cadrin-Tourigny, Julia, Giraldeau, Geneviève, L’Allier, Philippe L., Garceau, Patrick, Tardif, Jean Claude, Boekholdt, S. Matthijs, Lumbers, R. Thomas, Asselbergs, Folkert W., Barton, Paul J.R., Cook, Stuart A., Prasad, Sanjay K., O’Regan, Declan P., van der Velden, Jolanda, Verweij, Karin J.H., Talajic, Mario, Lettre, Guillaume, Pinto, Yigal M., Meder, Benjamin, Charron, Philippe, de Boer, Rudolf A., Christiaans, Imke, Michels, Michelle, Wilde, Arthur A.M., Watkins, Hugh, Matthews, Paul M., Ware, James S., and Bezzina, Connie R.

Published
2021

44. Marathon-Induced Cardiac Strain as Model for the Evaluation of Diagnostic microRNAs for Acute Myocardial Infarction

Author

Shirvani Samani, Omid, Scherr, Johannes; https://orcid.org/0000-0001-9948-1024, Kayvanpour, Elham; https://orcid.org/0000-0001-7285-2825, Haas, Jan, Lehmann, David H, Gi, Weng-Tein, Frese, Karen S; https://orcid.org/0000-0003-1822-8559, Nietsch, Rouven, Fehlmann, Tobias, Sandke, Steffi, Weis, Tanja, Keller, Andreas; https://orcid.org/0000-0002-5361-0895, Katus, Hugo A, Halle, Martin, Frey, Norbert, Meder, Benjamin, Sedaghat-Hamedani, Farbod; https://orcid.org/0000-0002-3266-0527, Shirvani Samani, Omid, Scherr, Johannes; https://orcid.org/0000-0001-9948-1024, Kayvanpour, Elham; https://orcid.org/0000-0001-7285-2825, Haas, Jan, Lehmann, David H, Gi, Weng-Tein, Frese, Karen S; https://orcid.org/0000-0003-1822-8559, Nietsch, Rouven, Fehlmann, Tobias, Sandke, Steffi, Weis, Tanja, Keller, Andreas; https://orcid.org/0000-0002-5361-0895, Katus, Hugo A, Halle, Martin, Frey, Norbert, Meder, Benjamin, and Sedaghat-Hamedani, Farbod; https://orcid.org/0000-0002-3266-0527

Abstract

Background: The current gold standard biomarker for myocardial infarction (MI), cardiac troponin (cTn), is recognized for its high sensitivity and organ specificity; however, it lacks diagnostic specificity. Numerous studies have introduced circulating microRNAs as potential biomarkers for MI. This study investigates the MI-specificity of these serum microRNAs by investigating myocardial stress/injury due to strenuous exercise. Methods: MicroRNA biomarkers were retrieved by comprehensive review of 109 publications on diagnostic serum microRNAs for MI. MicroRNA levels were first measured by next-generation sequencing in pooled sera from runners (n = 46) before and after conducting a full competitive marathon. Hereafter, reverse transcription quantitative real-time PCR (qPCR) of 10 selected serum microRNAs in 210 marathon runners was performed (>10,000 qPCR measurements). Results: 27 potential diagnostic microRNA for MI were retrieved by the literature review. Eight microRNAs (miR-1-3p, miR-21-5p, miR-26a-5p, miR-122-5p, miR-133a-3p, miR-142-5p, miR-191-5p, miR-486-3p) showed positive correlations with cTnT in marathon runners, whereas two miRNAs (miR-134-5p and miR-499a-5p) showed no correlations. Upregulation of miR-133a-3p (p = 0.03) and miR-142-5p (p = 0.01) went along with elevated cTnT after marathon. Conclusion: Some MI-associated microRNAs (e.g., miR-133a-3p and miR-142-5p) have similar kinetics under strenuous exercise and MI as compared to cTnT, which suggests that their diagnostic specificity could be limited. In contrast, several MI-associated microRNAs (miR-26a-5p, miR-134-5p, miR-191-5p) showed different release behavior; hence, combining cTnT with these microRNAs within a multi-marker strategy may add diagnostic accuracy in MI.

Published
2021

46. Energy Metabolites as Biomarkers in Ischemic and Dilated Cardiomyopathy

Author

Haas, Jan, primary, Frese, Karen S., additional, Sedaghat-Hamedani, Farbod, additional, Kayvanpour, Elham, additional, Tappu, Rewati, additional, Nietsch, Rouven, additional, Tugrul, Oguz Firat, additional, Wisdom, Michael, additional, Dietrich, Carsten, additional, Amr, Ali, additional, Weis, Tanja, additional, Niederdränk, Torsten, additional, Murphy, Michael P., additional, Krieg, Thomas, additional, Dörr, Marcus, additional, Völker, Uwe, additional, Fielitz, Jens, additional, Frey, Norbert, additional, Felix, Stephan B., additional, Keller, Andreas, additional, Katus, Hugo A., additional, and Meder, Benjamin, additional

Published
2021
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47. Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene

Author

Poller, Wolfgang, Haas, Jan, Klingel, Karin, K��hnisch, Jirko, Gast, Martina, Kaya, Ziya, Escher, Felicitas, Kayvanpour, Elham, Degener, Franziska, Opgen���Rhein, Bernd, Berger, Felix, Mochmann, Hans���Christian, Skurk, Carsten, Heidecker, Bettina, Schultheiss, Heinz���Peter, Monserrat, Lorenzo, Meder, Benjamin, Landmesser, Ulf, and Klaassen, Sabine

Subjects
Male, Heredity, Adolescent, Cardiomyopathy, Haploinsufficiency, Arrhythmias, Recurrence, Risk Factors, Pediatric Cardiology, Genetics, Mechanisms, Humans, Genetic Predisposition to Disease, cardiovascular genetics, Exercise, Arrhythmogenic Right Ventricular Dysplasia, Original Research, genome‐environment interactions, desmoplakin, Siblings, Genetic Variation, arrhythmogenic cardiomyopathy, Middle Aged, genome-environment interactions, Pedigree, Myocarditis, Phenotype, Desmoplakins, Cardiovascular and Metabolic Diseases, Female, Gene-Environment Interaction, Cell Biology/Structural Biology, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
Abstract

BACKGROUND: Variants of the desmosomal protein desmoplakin are associated with arrhythmogenic cardiomyopathy, an important cause of ventricular arrhythmias in children and young adults. Disease penetrance of desmoplakin variants is incomplete and variant carriers may display noncardiac, dermatologic phenotypes. We describe a novel cardiac phenotype associated with a truncating desmoplakin variant, likely causing mechanical instability of myocardial desmosomes. METHODS AND RESULTS: In 2 young brothers with recurrent myocarditis triggered by physical exercise, screening of 218 cardiomyopathy-related genes identified the heterozygous truncating variant p.Arg1458Ter in desmoplakin. Screening for infections yielded no evidence of viral or nonviral infections. Myosin and troponin I autoantibodies were detected at high titers. Immunohistology failed to detect any residual DSP protein in endomyocardial biopsies, and none of the histologic criteria of arrhythmogenic cardiomyopathy were fulfilled. Cardiac magnetic resonance imaging revealed no features associated with right ventricular arrhythmogenic cardiomyopathy, but multifocal subepicardial late gadolinium enhancement was present in the left ventricles of both brothers. Screening of adult cardiomyopathy cohorts for truncating variants identified the rare genetic variants p.Gln307Ter, p.Tyr1391Ter, and p.Tyr1512Ter, suggesting that over subsequent decades critical genetic/exogenous modifiers drive pathogenesis from desmoplakin truncations toward different end points. CONCLUSIONS: The described novel phenotype of familial recurrent myocarditis associated with a desmoplakin truncation in adolescents likely represents a serendipitously revealed subtype of arrhythmogenic cardiomyopathy. It may be caused by a distinctive adverse effect of the variant desmoplakin upon the mechanical stability of myocardial desmosomes. Variant screening is advisable to allow early detection of patients with similar phenotypes.

Published
2020

48. Predicting sustained ventricular arrhythmias in dilated cardiomyopathy: a meta-analysis and systematic review

Author

Onderzoek Precision medicine, Team Onderzoek, Arts Assistenten Cardiologie, Team Medisch, Circulatory Health, Sammani, Arjan, Kayvanpour, Elham, Bosman, Laurens P, Sedaghat-Hamedani, Farbod, Proctor, Tanja, Gi, Weng-Tein, Broezel, Alicia, Jensen, Katrin, Katus, Hugo A, Te Riele, Anneline S J M, Meder, Benjamin, Asselbergs, Folkert W, Onderzoek Precision medicine, Team Onderzoek, Arts Assistenten Cardiologie, Team Medisch, Circulatory Health, Sammani, Arjan, Kayvanpour, Elham, Bosman, Laurens P, Sedaghat-Hamedani, Farbod, Proctor, Tanja, Gi, Weng-Tein, Broezel, Alicia, Jensen, Katrin, Katus, Hugo A, Te Riele, Anneline S J M, Meder, Benjamin, and Asselbergs, Folkert W

Published
2020

49. From Medical Images to Fast Computational Models of Heart Electromechanics: An Integrated Framework towards Clinical Use

Author

Zettinig, Oliver, primary, Mansi, Tommaso, additional, Georgescu, Bogdan, additional, Rapaka, Saikiran, additional, Kamen, Ali, additional, Haas, Jan, additional, Frese, Karen S., additional, Sedaghat-Hamedani, Farbod, additional, Kayvanpour, Elham, additional, Amr, Ali, additional, Hardt, Stefan, additional, Mereles, Derliz, additional, Steen, Henning, additional, Keller, Andreas, additional, Katus, Hugo A., additional, Meder, Benjamin, additional, Navab, Nassir, additional, and Comaniciu, Dorin, additional

Published
2013
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50. Fast Data-Driven Calibration of a Cardiac Electrophysiology Model from Images and ECG

Author

Zettinig, Oliver, primary, Mansi, Tommaso, additional, Georgescu, Bogdan, additional, Kayvanpour, Elham, additional, Sedaghat-Hamedani, Farbod, additional, Amr, Ali, additional, Haas, Jan, additional, Steen, Henning, additional, Meder, Benjamin, additional, Katus, Hugo, additional, Navab, Nassir, additional, Kamen, Ali, additional, and Comaniciu, Dorin, additional

Published
2013
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