Search Results - "Hoedemaekers, Yvonne M"

Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy by van Waning, Jaap I., Caliskan, Kadir, Michels, Michelle, Schinkel, Arend F.L., Hirsch, Alexander, Dalinghaus, Michiel, Hoedemaekers, Yvonne M., Wessels, Marja W., IJpma, Arne S., Hofstra, Robert M.W., van Slegtenhorst, Marjon A., Majoor-Krakauer, Danielle

“…There is overlap in genetic causes and cardiac features in noncompaction cardiomyopathy (NCCM), hypertrophic cardiomyopathy (HCM), and dilated cardiomyopathy…”
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HCN4 Mutations in Multiple Families With Bradycardia and Left Ventricular Noncompaction Cardiomyopathy by Milano, Annalisa, MSc, Vermeer, Alexa M.C., MD, Lodder, Elisabeth M., PhD, Barc, Julien, PhD, Verkerk, Arie O., PhD, Postma, Alex V., PhD, van der Bilt, Ivo A.C., MD, Baars, Marieke J.H., MD, PhD, van Haelst, Paul L., MD, PhD, Caliskan, Kadir, MD, Hoedemaekers, Yvonne M., MD, PhD, Le Scouarnec, Solena, PhD, Redon, Richard, PhD, Pinto, Yigal M., MD, PhD, Christiaans, Imke, MD, PhD, Wilde, Arthur A., MD, PhD, Bezzina, Connie R., PhD

“…Abstract Background Familial forms of primary sinus bradycardia have sometimes been attributed to mutations in HCN4 , SCN5A , and ANK2 . In these studies, no…”
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Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants by Jansen, Mark, Schuldt, Maike, van Driel, Beau O, Schmidt, Amand F, Christiaans, Imke, van der Crabben, Saskia N, Hoedemaekers, Yvonne M, Dooijes, Dennis, Jongbloed, Jan D H, Boven, Ludolf G, Deprez, Ronald H Lekanne, Wilde, Arthur A M, Jans, Judith J M, van der Velden, Jolanda, de Boer, Rudolf A, van Tintelen, J Peter, Asselbergs, Folkert W, Baas, Annette F

“…Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by pathogenic variants, and a significant cause of sudden…”
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The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy by Hoedemaekers, Yvonne M, Caliskan, Kadir, Michels, Michelle, Frohn-Mulder, Ingrid, van der Smagt, Jasper J, Phefferkorn, Judith E, Wessels, Marja W, ten Cate, Folkert J, Sijbrands, Eric J.G, Dooijes, Dennis, Majoor-Krakauer, Danielle F

“…BACKGROUND—Left ventricular (LV) noncompaction (LVNC) is a distinct cardiomyopathy featuring a thickened bilayered LV wall consisting of a thick endocardial…”
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Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers by Michels, Michelle, Soliman, Osama I.I., Phefferkorn, Judith, Hoedemaekers, Yvonne M., Kofflard, Marcel J., Dooijes, Dennis, Majoor-Krakauer, Danielle, Ten Cate, Folkert J.

“…Aims To investigate the outcome of cardiac evaluation and the risk stratification for sudden cardiac death (SCD) in asymptomatic hypertrophic cardiomyopathy…”
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Diastolic Abnormalities as the First Feature of Hypertrophic Cardiomyopathy in Dutch Myosin-Binding Protein C Founder Mutations by Michels, Michelle, MD, Soliman, Osama I.I., MD, PhD, Kofflard, Marcel J., MD, PhD, Hoedemaekers, Yvonne M., MD, Dooijes, Dennis, PhD, Majoor-Krakauer, Danielle, MD, PhD, ten Cate, Folkert J., MD, PhD

“…Diastolic Abnormalities as First Feature of Hypertrophic Cardiomyopathy in Dutch Myosin-Binding Protein C Founder Mutations Michelle Michels, Osama I. I…”
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Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy by van Waning, Jaap I., Caliskan, Kadir, Hoedemaekers, Yvonne M., van Spaendonck-Zwarts, Karin Y., Baas, Annette F., Boekholdt, S. Matthijs, van Melle, Joost P., Teske, Arco J., Asselbergs, Folkert W., Backx, Ad P.C.M., du Marchie Sarvaas, Gideon J., Dalinghaus, Michiel, Breur, Johannes M.P.J., Linschoten, Marijke P.M., Verlooij, Laura A., Kardys, Isabella, Dooijes, Dennis, Lekanne Deprez, Ronald H., IJpma, Arne S., van den Berg, Maarten P., Hofstra, Robert M.W., van Slegtenhorst, Marjon A., Jongbloed, Jan D.H., Majoor-Krakauer, Danielle

“…The clinical outcomes of noncompaction cardiomyopathy (NCCM) range from asymptomatic to heart failure, arrhythmias, and sudden cardiac death. Genetics play an…”
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FLNC Missense Variants in Familial Noncompaction Cardiomyopathy by van Waning, Jaap, Hoedemaekers, Yvonne, te Rijdt, Wouter, Jpma, Arne, Heijsman, Daphne, Caliskan, Kadir, Hoendermis, Elke, Willems, Tineke, van den Wijngaard, Arthur, Suurmeijer, Albert, van Slegtenhorst, Marjon, Jongbloed, Jan, Majoor-Krakauer, Danielle, van der Zwaag, Paul

“…The majority of familial noncompaction cardiomyopathy (NCCM) is explained by pathogenic variants in the same sarcomeric genes that are associated with…”
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Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis by Bertoli-Avella, Aida M, van de Laar, Ingrid M B H, Oldenburg, Rogier A, Pals, Gerard, Roos-Hesselink, Jolien W, de Graaf, Bianca M, Verhagen, Judith M A, Hoedemaekers, Yvonne M, Willemsen, Rob, Severijnen, Lies-Anne, Venselaar, Hanka, Vriend, Gert, Pattynama, Peter M, Collée, Margriet, Majoor-Krakauer, Danielle, Poldermans, Don, Frohn-Mulder, Ingrid M E, Micha, Dimitra, Timmermans, Janneke, Hilhorst-Hofstee, Yvonne, Bierma-Zeinstra, Sita M, Willems, Patrick J, Kros, Johan M, Oei, Edwin H G, Oostra, Ben A, Wessels, Marja W

“…Thoracic aortic aneurysms and dissections are a main feature of connective tissue disorders, such as Marfan syndrome and Loeys-Dietz syndrome. We delineated a…”
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Mortality Risk of Untreated Myosin-Binding Protein C–Related Hypertrophic Cardiomyopathy by Nannenberg, Eline A., MD, Michels, Michelle, MD, PhD, Christiaans, Imke, MD, PhD, Majoor-Krakauer, Danielle, MD, PhD, Hoedemaekers, Yvonne M., MD, PhD, van Tintelen, J. Peter, MD, PhD, Lombardi, M. Paola, PhD, ten Cate, Folkert J., MD, PhD, Schinkel, Arend F.L., MD, PhD, Tijssen, Jan G.P., PhD, van Langen, Irene M., MD, PhD, Wilde, Arthur A.M., MD, PhD, Sijbrands, Eric J.G., MD, PhD

“…Objectives The goal of this study was to assess the mortality of hypertrophic cardiomyopathy (HCM), partly in times when the disease was not elucidated and…”
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Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects by Wessels, Marja W, Herkert, Johanna C, Frohn-Mulder, Ingrid M, Dalinghaus, Michiel, van den Wijngaard, Arthur, de Krijger, Ronald R, Michels, Michelle, de Coo, Irenaeus Fm, Hoedemaekers, Yvonne M, Dooijes, Dennis

“…Familial hypertrophic cardiomyopathy (HCM) is usually caused by autosomal dominant pathogenic mutations in genes encoding sarcomeric or sarcomere-associated…”
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SEPT–GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics by Alimohamed, Mohamed Z., Boven, Ludolf G., van Dijk, Krista K., Vos, Yvonne J., Hoedemaekers, Yvonne M., van der Zwaag, Paul A., Sijmons, Rolf H., Jongbloed, Jan D.H., Sikkema-Raddatz, Birgit, Westers, Helga

“…•Compared to similar individually tested algorithms, SEPT–GD shows higher sensitivity (91%) and comparable specificity (88%) for both consensus and…”
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A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial by van den Heuvel, Lieke M, Hoedemaekers, Yvonne M, Baas, Annette F, Baars, Marieke J H, van Tintelen, J Peter, Smets, Ellen M A, Christiaans, Imke

“…If undetected, inherited cardiac conditions can lead to sudden cardiac death, while treatment options are available. Predictive DNA testing is therefore…”
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Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients by Alimohamed, Mohamed Z., Johansson, Lennart F., Posafalvi, Anna, Boven, Ludolf G., van Dijk, Krista K., Walters, Lisa, Vos, Yvonne J., Westers, Helga, Hoedemaekers, Yvonne M., Sinke, Richard J., Sijmons, Rolf H., Sikkema-Raddatz, Birgit, Jongbloed, Jan D.H., van der Zwaag, Paul A.

“…Next-generation sequencing (NGS) is increasingly used for clinical evaluation of cardiomyopathy patients as it allows for simultaneous screening of multiple…”
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Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees by van den Heuvel, Lieke M, Huisinga, Mette J, Hoedemaekers, Yvonne M, Baas, Annette F, Plantinga, Mirjam, Henneman, Lidewij, van Tintelen, J Peter, Smets, Ellen M A, Christiaans, Imke

“…Inherited cardiac conditions (ICCs) can lead to sudden cardiac death at young age, even without previous symptoms, yet often remain undetected. To prevent…”
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Cardiac β-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies by Hoedemaekers, Yvonne M., Caliskan, Kadir, Majoor-Krakauer, Danielle, van de Laar, Ingrid, Michels, Michelle, Witsenburg, Maarten, ten Cate, Folkert J., Simoons, Maarten L., Dooijes, Dennis

“…Cardiomyopathies are classified according to distinct morphological characteristics. They occur relatively frequent and are an important cause of mortality and…”
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Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose‐dependent disease severity by Vermeer, Mathilde C. S. C., Andrei, Daniela, Kramer, Duco, Nijenhuis, Albertine M., Hoedemaekers, Yvonne M., Westers, Helga, Jongbloed, Jan D. H., Pas, Hendri H., Berg, Maarten P., Silljé, Herman H. W., Meer, Peter, Bolling, Maria C.

“…Desmoplakin (DP) is an important component of desmosomes, essential in cell–cell connecting structures in stress‐bearing tissues. Over the years, many hundreds…”
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The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy by Hoorntje, Edgar T., van Spaendonck‐Zwarts, Karin Y., te Rijdt, Wouter P., Boven, Ludolf, Vink, Aryan, van der Smagt, Jasper J., Asselbergs, Folkert W., van Wijngaarden, Jan, Hennekam, Eric A., Pinto, Yigal M., Lekanne Deprez, Ronald H., Barge‐Schaapveld, Daniela Q.C.M., Bootsma, Marianne, Regieli, Jakub, Hoedemaekers, Yvonne M., Jongbloed, Jan D.H., van den Berg, Maarten P., van Tintelen, J. Peter

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The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant by Bos, Thomas A., Piers, Sebastiaan R. D., Wessels, Marja W., Houweling, Arjan C., Bökenkamp, Regina, Bootsma, Marianne, Bosman, Laurens P., Evertz, Reinder, Hellebrekers, Debby M. E. I., Hoedemaekers, Yvonne M., Knijnenburg, Jeroen, Lekanne Deprez, Ronald, van Mil, Anneke M., te Riele, Anneline S. J. M., van Slegtenhorst, Marjon A., Wilde, Arthur A. M., Yap, Sing-Chien, Dooijes, Dennis, Koopmann, Tamara T., van Tintelen, J. Peter, Barge-Schaapveld, Daniela Q. C. M.

“…Background The arrhythmogenic cardiomyopathy (ACM) phenotype, with life-threatening ventricular arrhythmias and heart failure, varies according to genetic…”
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A tailored approach towards informing relatives at risk of inherited cardiac conditions: study protocol for a randomised controlled trial by van den Heuvel, Lieke M, Hoedemaekers, Yvonne M, Baas, Annette F, van Tintelen, J Peter, Smets, Ellen M A, Christiaans, Imke

“…IntroductionIn current practice, probands are asked to inform relatives about the possibility of predictive DNA testing when a pathogenic variant causing an…”
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