Cardiogenetics

We study inherited cardiovascular diseases, with a special focus on cardiomyopathies and aortic aneurysms. Our research helps to uncover new genes linked to these diseases and understand how they affect individuals in different ways.

Building the complete picture

To learn how these diseases develop and change over time, we closely examine patients and their families. This helps us understand the full range of symptoms and disease progression, and supports more accurate and personalized genetic counseling.

Exploring disease mechanisms

We use advanced genomic tools (such as transcriptomics, whole-genome sequencing, and functional modeling) to investigate the mechanisms underlying these diseases, and how they can be treated more effectively.

Improving care together

We contribute to clinical guidelines, work in multidisciplinary teams, and collaborate with patients and patient organizations. Our goal is to improve personalized care for individuals with inherited cardiovascular diseases through a patient-centered approach.

High incidence of malignant arrhythmias and heart failure in patients with RBM20 associated cardiomyopathy: A multicenter cohort study and review of the literature. Tukker M, Te Rijdt WP, Amin AS, Morris-Rosendahl DJ, Hirsch A, Ben-Haim Y, Houweling AC, Varnava A, Behr ER, Edwards M, Vanmaele A, Hajdarpasic A, von der Thusen J, Michels M, de Boer RA, van Slegtenhorst MA, Caliskan K. (2025) Int J Cardiol. 434:133350. https://doi.org/10.1016/j.ijcard.2025.133350

A randomized controlled trial of eplerenone in asymptomatic phospholamban p.Arg14del carriers. de Brouwer R, Te Rijdt WP, Hoorntje ET, Amin A, Asselbergs FW, Cox MGPJ, van der Heijden JF, Hillege H, Karper JC, Mahmoud B, van der Meer P, Oomen A, Te Riele ASJM, Silljé HHW, Tan HL, van Tintelen JP, van Veldhuisen DJ, Westenbrink BD, Wiesfeld ACP, Willems TP, van der Zwaag PA, Wilde AAM, de Boer RA, van den Berg MP. (2023) Eur Heart J. 44(40):4284-4287. https://doi.org/10.1093/eurheartj/ehad292

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort. van den Bersselaar LM, Verhagen JMA, Bekkers JA, Kempers M, Houweling AC, Baars M, Overwater E, Hilhorst-Hofstee Y, Barge-Schaapveld DQCM, Rompen E, Krapels IPC, Dulfer E, Wessels MW, Loeys BL, Verhagen HJM, Maugeri A, Roos- Hesselink JW, Brüggenwirth HT, van de Laar IMBH. (2022) Genet Med. 24(10):2112-2122. https://doi.org/10.1016/j.gim.2022.07.009

Surveillance and monitoring in vascular Ehlers-Danlos

syndrome in European Reference Network For Rare Vascular Diseases (VASCERN). van de Laar IMBH, Baas AF, De Backer J, Blankenstein JD, Dulfer E, Helderman-van den Enden ATJM, Houweling AC, Kempers MJ, Loeys B, Malfait F, Robert L, Tanteles G, Frank M. (2022) Eur J Med Genet. 65(9):104557. https://doi.org/10.1016/j.ejmg.2022.104557

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect. Tadros R, Francis C, Xu X, Vermeer AMC, Harper AR, Huurman R, Kelu Bisabu K, Walsh R, Hoorntje ET, Te Rijdt WP, Buchan RJ, van Velzen HG, van Slegtenhorst MA, Vermeulen JM, Offerhaus JA, Bai W, de Marvao A, Lahrouchi N, Beekman L, Karper JC, Veldink JH, Kayvanpour E, Pantazis A, Baksi AJ, Whiffin N, Mazzarotto F, Sloane G, Suzuki H, Schneider Luftman D, Elliott P, Richard P, Ader F, Villard E, Lichtner P, Meitinger T, Tanck MWT, van Tintelen JP, Thain A, McCarty D, Hegele RA, Roberts JD, Amyot J, Dubé MP, Cadrin-Tourigny J, Giraldeau G, L'Allier PL, Garceau P, Tardif JC, Boekholdt SM, Lumbers RT, Asselbergs FW, Barton PJR, Cook SA, Prasad SK, O'Regan DP, van der Velden J, Verweij KJH, Talajic M, Lettre G, Pinto YM, Meder B, Charron P, de Boer RA, Christiaans I, Michels M, Wilde AAM, Watkins H, Matthews PM, Ware JS, Bezzina CR. (2021) Nat Genet. 53(2):128-134. https://doi.org/10.1038/s41588-020-00762-2

Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives. Verhagen JMA, Kempers M, Cozijnsen L, Bouma BJ, Duijnhouwer AL, Post JG, Hilhorst-Hofstee Y, Bekkers SCAM, Kerstjens-Frederikse WS, van Brakel TJ, Lambermon E, Wessels MW, Loeys BL, Roos-Hesselink JW, van de Laar IMBH; National Working Group on BAV & TAA. (2018) Int J Cardiol. 258:243-248. https://doi.org/10.1016/j.ijcard.2018.01.145

Biallelic truncating mutations in ALPK3 cause severe pediatric cardiomyopathy. Almomani R, Verhagen JM, Herkert JC, Brosens E, van Spaendonck-Zwarts KY, Asimaki A, van der Zwaag PA, Frohn-Mulder IM, Bertoli-Avella AM, Boven LG, van Slegtenhorst MA, van der Smagt JJ, van IJcken WF, Timmer B, van Stuijvenberg M, Verdijk RM, Saffitz JE, du Plessis FA, Michels M, Hofstra RM, Sinke RJ, van Tintelen JP, Wessels MW, Jongbloed JD, van de Laar IM. (2016) J Am Coll Cardiol. 67(5):515-25. https://doi.org/10.1016/j.jacc.2015.10.093

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JMA, de Graaf BM, van deBeek G, Gallo E, Kruithof BPT, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G, van Cappellen GWA, Yamanaka I, van der Helm RM, Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, Bruggenwirth HT, Verheijen F, Rodrigus I, Baynam G, Kempers M, Saenen J, Van Craenenbroeck EM, Minatoya K, Matsukawa R, Tsukube T, Kubo N, Hofstra R, Goumans MJ, Bekkers JA, Roos-Hesselink JW, van de Laar IMBH, Dietz HC, Van Laer L, Morisaki T, Wessels MW, Loeys BL. (2015) J Am Coll Cardiol. 65(13):1324-1336. https://doi.org/10.1016/j.jacc.2015.01.040

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, Verhagen JM, Hoedemaekers YM, Willemsen R, Severijnen LA, Venselaar H, Vriend G, Pattynama PM, Collée M, Majoor-Krakauer D, Poldermans D, Frohn-Mulder IM, Micha D, Timmermans J, Hilhorst-Hofstee Y, Bierma-Zeinstra SM, Willems PJ, Kros JM, Oei EH, Oostra BA, Wessels MW, Bertoli-Avella AM. (2011) Nat Genet. 43(2):121-6. https://doi.org/10.1038/ng.744

Department of Clinical Genetics

Department of Cardiology

Department of Pediatric Cardiology

Department of Cardiothoracic Surgery

Collaboration outside of Erasmus MC:

PRECISE consortium

Double Dose consortium

ERN GUARD-Heart (European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart)

VASCERN (European Reference Network for Rare Multisytemic Vascular Diseases

Hennie T. Brüggenwirth, PhD, laboratory specialist

Desirée C.R. de Jongh, clinical nurse specialist

Rogier A. Oldenburg, MD, PhD, clinical geneticist

Sue N. van Bergen, clinical nurse specialist

Ingrid M.B.H van de Laar, MD, PhD, clinical geneticist

Lisa M. van den Bersselaar, MD, PhD student

Nienke van Engelen, MD, PhD, postdoctoral felllow

Marjon A. van Slegtenhorst, PhD, laboratory specialist

Wouter P. te Rijdt, MD, PhD, clinical geneticist

Judith M.A. Verhagen, MD, PhD, clinical geneticist

Marja W. Wessels, MD, PhD, clinical geneticist

Alumni

Aida M. Bertoli-Avella, MD, PhD, clinical molecular geneticist

Vanessa French, PhD, postdoctoral fellow

Claudine W.B. Ruijmbeek, PhD