Postsystolic thickening is a potential new clinical sign of injured myocardium in marfan syndrome

Autor: Aleksandra Mas-Stachurska, Gustavo Egea, Rianne de Bruin-Bon, Paula Rudenick, Laura Sanchis, Berto J. Bouma, Barbara J. Mulder, Bart Bijnens, Marta Sitges

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)

Abstract The mechanisms leading to cardiac remodeling in Marfan syndrome (MFS) are a matter of debate since it could be either due to structural dysfunction of the myocardial extracellular matrix or to increased afterload caused by the dilated aorta.

Externí odkaz: https://doaj.org/article/b0f692e82db944b9b8321f9cfaf42029

An implantable loop recorder or smartphone based single-lead electrocardiogram to detect arrhythmia in adults with congenital heart disease?

Autor: Maarten A. Koole, Dirkjan Kauw, Kirsten M. Kooiman, Joris R. de Groot, Danielle Robbers-Visser, Igor I. Tulevski, Barbara J. Mulder, Berto J. Bouma, Mark J. Schuuring

Publikováno v: Frontiers in cardiovascular medicine, 9:1099014. Frontiers Media S.A.

BackgroundThe European Society of Cardiology (ESC) guidelines for the management of adult congenital heart disease (ACHD) recommend screening in patients at risk for arrhythmic events. However, the optimal mode of detection is unknown.MethodsBaseline

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40a36362afc209f2eb72610eb90276b1
https://research.vumc.nl/en/publications/5093b72f-046a-4115-925c-1d47bfb14dcb

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Autor: Doris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M. Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf, Fleur V.Y. Tjong, Roddy Walsh, Ihssane El Bouchikhi, Jeroen Breckpot, Enrique Audain, Aho Ilgun, Leander Beekman, Ilham Ratbi, Alanna Strong, Maximilian Muenke, Solveig Heide, Alison M. Muir, Mariam Hababa, Laura Cross, Dihong Zhou, Tomi Pastinen, Marc-Phillip Hitz, Hashim Abdul-Khaliq, Felix Berger, Ingo Dähnert, Sven Dittrich, Anselm Uebing, Brigitte Stiller, Elaine Zackai, Samir Atmani, Karim Ouldim, Najlae Adadi, Katharina Steindl, Anita Rauch, David Brook, Anna Wilsdon, Irene Kuipers, Nico A. Blom, Barbara J. Mulder, Heather C. Mefford, Boris Keren, Pascal Joset, Paul Kruszka, Isabelle Thiffault, Sarah E. Sheppard, Amy Roberts, Elisabeth M. Lodder, Bernard D. Keavney, Sally-Ann B. Clur, Seema Mital, Marc-Philip Hitz, Vincent M. Christoffels, Alex V. Postma, Connie R. Bezzina

Publikováno v: Genetics in Medicine
Genetics in medicine, 23(10), 1952-1960. Lippincott Williams and Wilkins
Genetics in Medicine, 23(10), 1952-1960. SPRINGERNATURE
Škorić-Milosavljević, D, Lahrouchi, N, Bosada, FM, Dombrowsky, G, Williams, SG, Lesurf, R, Tjong, FVY, Walsh, R, El, B I, Breckpot, J, Audain, E, Bezzina, CR & Keavney, B 2021, ' Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot. ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-021-01212-y

PURPOSE: Rare genetic variants in KDR, encoding the vascular endothelial growth factor receptor 2 (VEGFR2), have been reported in patients with tetralogy of Fallot (TOF). However, their role in disease causality and pathogenesis remains unclear. METH

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4afbca70db70b5fa002b2766fd74cae1
https://hdl.handle.net/1887/3238113

Abstract 480: Aortic Microcalcification Associates With Aortic Elastin Fragmentation in Marfan Syndrome

Autor: Shaynah Wanga, Stijntje Hibender, Yanto Ridwan, Cindy van Roomen, Mariska Vos, Ingeborg van der Made, Nicole van Vliet, Romy Franken, Maarten Groenink, Aeilko H Zwinderman, Barbara J Mulder, Carlie J de Vries, Jeroen Essers, Vivian de Waard

Publikováno v: Arteriosclerosis, Thrombosis, and Vascular Biology. 37

Marfan syndrome (MFS) is a genetic connective tissue disorder, in which aortic rupture is the major cause of death. MFS patients with an aortic diameter below the advised limit for prophylactic surgery (C1039G/+ MFS aortic SMCs, ALP mRNA and activity

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::623773232d65cdf115fa02ed38b8455e
https://doi.org/10.1161/atvb.37.suppl_1.480

2015 ESC Guidelines for the management of infective endocarditis. The Task Force for the Management of Infective Endocarditis of the European Society of Cardiology (ESC)

Autor: Gilbert, Habib, Patrizio, Lancellotti, Manuel J, Antunes, Maria Grazia, Bongiorni, Jean-Paul, Casalta, Francesco, Del Zotti, Raluca, Dulgheru, Gebrine, El Khoury, Paola Anna, Erba, Bernard, Iung, Jose M, Miro, Barbara J, Mulder, Edyta, Plonska-Gosciniak, Susanna, Price, Jolien, Roos-Hesselink, Ulrika, Snygg-Martin, Franck, Thuny, Pilar, Tornos Mas, Isidre, Vilacosta, Jose Luis, Zamorano

Publikováno v: Giornale italiano di cardiologia (2006). 17(4)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::29272c84a3082d2942dc5eb5abaf1179
https://pubmed.ncbi.nlm.nih.gov/27093212