扩张型心肌病的遗传咨询实施。
Verdonschot, J.A.J., Spaendonck-Zwarts, K.Y.v., Hellebrekers, D.M.E.I., Asselbergs, F.W., Behr, E.R., Charron, P., Dawson, D., Garcia-Pavia, P., Haugaa, K.H., Jurcut, R., Kuchynka, P., Lopes, L.R., Mazzanti, A., Metra, M., Monserrat, L., Kaski, J.P., Pantazis, A., Prasad, S.K., Rosano, G., . . . Tintelen, J.P.v. (2026). Genetic counselling implementation in dilated cardiomyopathy.. Eur Heart J. https://doi.org/10.1093/eurheartj/ehag159
Verdonschot JAJ, Spaendonck-Zwarts KYv, Hellebrekers DMEI, Asselbergs FW, Behr ER, Charron P, et al. Genetic counselling implementation in dilated cardiomyopathy.. Eur Heart J. 2026; doi: 10.1093/eurheartj/ehag159
Verdonschot JAJ, Spaendonck-Zwarts KYv, Hellebrekers DMEI, et al. Genetic counselling implementation in dilated cardiomyopathy.[J]. Eur Heart J. 2026. DOI: 10.1093/eurheartj/ehag159.
@article{verdonschot2026,
author = {Job A J Verdonschot and Karin Y van Spaendonck-Zwarts and Debby M E I Hellebrekers and Folkert W Asselbergs and Elijah R Behr and Philippe Charron and Dana Dawson and Pablo Garcia-Pavia and Kristina H Haugaa and Ruxandra Jurcut and Petr Kuchynka and Luis R Lopes and Andrea Mazzanti and Marco Metra and Lorenzo Monserrat and Juan Pablo Kaski and Antonis Pantazis and Sanjay K Prasad and Giuseppe Rosano and Petar M Seferovic and Mary N Sheppard and Gianfranco Sinagra and Maria Teresa Tome Esteban and Stephane R B Heymans and J Peter van Tintelen},
title = {Genetic counselling implementation in dilated cardiomyopathy.},
journal = {Eur Heart J},
year = {2026},
doi = {10.1093/eurheartj/ehag159},
note = {PMID: 41858107},
}
TY - JOUR AU - Job A J Verdonschot AU - Karin Y van Spaendonck-Zwarts AU - Debby M E I Hellebrekers AU - Folkert W Asselbergs AU - Elijah R Behr AU - Philippe Charron AU - Dana Dawson AU - Pablo Garcia-Pavia AU - Kristina H Haugaa AU - Ruxandra Jurcut AU - Petr Kuchynka AU - Luis R Lopes AU - Andrea Mazzanti AU - Marco Metra AU - Lorenzo Monserrat AU - Juan Pablo Kaski AU - Antonis Pantazis AU - Sanjay K Prasad AU - Giuseppe Rosano AU - Petar M Seferovic AU - Mary N Sheppard AU - Gianfranco Sinagra AU - Maria Teresa Tome Esteban AU - Stephane R B Heymans AU - J Peter van Tintelen TI - Genetic counselling implementation in dilated cardiomyopathy. T2 - Eur Heart J PY - 2026 DO - 10.1093/eurheartj/ehag159 AN - PMID:41858107 ER -
Genetic testing has become an integral part of the diagnostic workup of patients with dilated cardiomyopathy (DCM). While the initial goal of genetic testing was to identify family members at risk, recent advances have now extended their relevance to clinical decision-making. Our knowledge of the genetic architecture of DCM has expanded significantly, promoting a shift from the monogenic dogma towards a broader polygenic spectrum. However, current genetic testing strategies still primarily rely on the model of monogenic inheritance with an incomplete penetrance. Large studies have shown a yield varying from 8% to 36% of genetic testing in patients with DCM, depending on aetiology or family history. Genetic testing is generally warranted for every patient with DCM where genetic results could have an impact on risk stratification, the prognosis or the treatment of the patient, or its family members with an opportunity for reassurance or early disease detection. There are various strategies for genetic testing including broad multigene panels, or more targeted panels limited to specific disease-associated genes. Identified variants are classified by genetic laboratories, where pathogenic or likely pathogenic variants often have actionable clinical implications. It is crucial to interpret these variants in the context of the individual patient considering the phenotype and other contributing factors. When the genetic results are consistent with the patients' broader phenotype, potential clinical implications may include decision for device therapy, recommendations for family screening, and reproductive options. A comprehensive approach to integrate genetic testing in the clinical care of patients with DCM is proposed.