NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield von Overwater, E, Floor, K, van Beek, D, de Boer, K, van Dijk, T, Hilhorst-Hofstee, Y, Hoogeboom, A.J.M, van Kaam, K.J, van de Kamp, J.M, Kempers, M, Krapels, I.P.C, Kroes, H.Y, Loeys, B, Salemink, S, Stumpel, C.T.R.M, Verhoeven, V.J.M, Wijnands-van den Berg, E, Cobben, J.M, van Tintelen, J.P, Weiss, M.M, Houweling, A.C, Maugeri, A

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Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2 von Patat, O., van Ravenswaaij-Arts, C.M.A., Tantau, J., Corsten-Janssen, N., van Tintelen, J.P., Dijkhuizen, T., Kaplan, J., Chassaing, N.

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Prediction of Pathogenicity of Missense Variants in Arrhythmogenic Right Ventricular Cardiomyopathy von Groeneweg, J.A, Bhonsale, A, James, C.A, van der Heijden, J.F, Murray, B, Wilde, A.A.M, Tichnell, C, Jongbloed, J.D.H, Tandri, H, van Tintelen, J.P, Judge, D.P, Hauer, R.N, Calkins, H, Dooijes, D

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How to inform relatives at risk of hereditary diseases? A mixed‐methods systematic review on patient attitudes von Heuvel, L.M., Smets, E.M.A., Tintelen, J.P., Christiaans, I.

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High Distress in Parents Whose Children Undergo Predictive Testing for Long QT Syndrome von Hendriks, Karin S.W.H., Grosfeld, F.J.M., Wilde, A.A.M., van den Bout, J., van Langen, I.M., van Tintelen, J.P., Kroode, H.F.J. ten

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D.P.3.03 Inflammatory myopathy in scapulo-ilio-peroneal atrophy with cardiopathy in two unrelated families is associated with the desmin mutation Asn342Asp von van der Kooi, A.J, Kraak, M.M.J, Ippel, P.F, Vrancken, A.F, Hoogendijk, J.E, van den Wijngaard, A, van Tintelen, J.P, de Visser, M, Jennekens, F.G.I, Jongbloed, J.D.H

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Novel KCNQ1 and HERG missense mutations in Dutch long‐QT families von Jongbloed, R.J.E., Wilde, A.A.M., Geelen, J.L.M.C., Doevendans, P., Schaap, C., Van Langen, I., van Tintelen, J.P., Cobben, J.M., Beaufort‐Krol, G.C.M., Geraedts, J.P.M., Smeets, H.J.M.

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303J-point elevation in subjects with TWI V1-V4 does not differentiate between arrhythmogenic right ventricular cardiomyopathy (ARVC) and healthy athletes when matched for age, sex... von Brosnan, M.J., Te Riele, A.S.J.M., Tichnell, C., Murray, B., Tandri, H., Bosman, P., Hoortntje, E.T., Van Den Berg, M.P., Van Tintelen, J.P., Prior, D.L., Calkins, H.G., La Gerche, A., James, C.

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Superior mesenteric artery aneurysm in a 9‐year‐old boy with classical Ehlers–Danlos syndrome von de Leeuw, K., Goorhuis, J.F., Tielliu, I.F.J., Symoens, S., Malfait, F., de Paepe, A., van Tintelen, J.P., Hulscher, J.B.F.

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Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands von Christiaans, I., Nannenberg, E. A., Dooijes, D., Jongbloed, R. J. E., Michels, M., Postema, P. G., Majoor-Krakauer, D., van den Wijngaard, A., Mannens, M. M. A. M., van Tintelen, J. P., van Langen, I. M., Wilde, A. A. M.

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Founder mutations in the Netherlands: SCN5a 1795insD, the first described arrhythmia overlap syndrome and one of the largest and best characterised families worldwide von Postema, P. G., Van den Berg, M. P., Van Tintelen, J. P., Van den Heuvel, F., Grundeken, M., Hofman, N., Van der Roest, W. P., Nannenberg, E. A., Krapels, I. P. C., Bezzina, C. R., Wilde, A. A. M.

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Novel KCNQ1 and HERG missense mutations in Dutch long-QT families von Jongbloed, R.J.E., Wilde, A.A.M., Geelen, J.L.M.C., Doevendans, P., Schaap, C., Van Langen, I., van Tintelen, J.P., Cobben, J.M., Beaufort-Krol, G.C.M., Geraedts, J.P.M., Smeets, H.J.M.

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Can parents adjust to the idea that their child is at risk for a sudden death?: Psychological impact of risk for long QT syndrome von Hendriks, Karin S.W.H., Grosfeld, F.J.M., van Tintelen, J.P., van Langen, I.M., Wilde, A.A.M., van den Bout, J., ten Kroode, H.F.J.

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Recurrent and founder mutations in the Netherlands: Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia von van der Zwaag, P.A., Cox, M.G.P.J., van der Werf, C., Wiesfeld, A.C.P., Jongbloed, J.D.H., Dooijes, D., Bikker, H., Jongbloed, R., Suurmeijer, A.J.H., van den Berg, M.P., Hofstra, R.M.W., Hauer, R.N.W., Wilde, A.A.M., van Tintelen, J.P.

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The many faces of aggressive aortic pathology: Loeys-Dietz syndrome von Aalberts, J. J. J., van den Berg, M. P., Bergman, J. E. H., Sarvaas, G. J. du Marchie, Post, J. G., van Unen, H., Pals, G., Boonstra, P. W., van Tintelen, J. P.

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Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy von Otten, E., Lekanne dit Deprez, R. H., Weiss, M. M., van Slegtenhorst, M., Joosten, M., van der Smagt, J. J., de Jonge, N., Kerstjens-Frederikse, W. S., Roofthooft, M. T. R., Balk, A. H. M. M., van den Berg, M. P., Ruiter, J. S., van Tintelen, J. P.

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Recurrent and founder mutations in inherited cardiac diseases in the Netherlands von van Tintelen, J. P., Wilde, A. A. M., Jongbloed, J. D. H.

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Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation von Aalberts, J. J. J., Schuurman, A. G., Pals, G., Hamel, B. J. C., Bosman, G., Hilhorst-Hofstee, Y., Barge-Schaapveld, D. Q. C. M., Mulder, B. J. M., van den Berg, M. P., van Tintelen, J. P.

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Abstract 16811: Phospholamban Immunostaining is a Highly Sensitive and Specific Method for Diagnosing Phospholamban p.Arg14del Cardiomyopathy von te Rijdt, W.P, van der Klooster, Z.J, van Tintelen, J.P, Dooijes, D, Asselbergs, F.W, van den Berg, M.P, Vink, A, Suurmeijer, A.J.H

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2023 ESC guidelines for the management of cardiomyopathies developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC) von Arbelo, E., Protonotarios, A., Gimeno, J.R., Arbustini, E., Barriales-Villa, R., Basso, C., Bezzina, C.R., Biagini, E., Blom, N.A., Boer, R.A. de, Winter, T. de, Elliott, P.M., Flather, M., Garcia-Pavia, P., Haugaa, K.H., Ingles, J., Jurcut, R.O., Klaassen, S., Limongelli, G., Loeys, B., Mogensen, J., Olivotto, I., Pantazis, A., Sharma, S., Tintelen, J.P. van, Ware, J.S., Kaski, J.P.

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