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Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics

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Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics. / Arbustini, Eloisa; Behr, Elijah R; Carrier, Lucie; van Duijn, Cornelia; Evans, Paul; Favalli, Valentina; van der Harst, Pim; Haugaa, Kristina Hermann; Jondeau, Guillaume; Kääb, Stefan; Kaski, Juan Pablo; Kavousi, Maryam; Loeys, Bart; Pantazis, Antonis; Pinto, Yigal; Schunkert, Heribert; Di Toro, Alessandro; Thum, Thomas; Urtis, Mario; Waltenberger, Johannes; Elliott, Perry.

in: EUR HEART J, Jahrgang 43, Nr. 20, 21.05.2022, S. 1901-1916.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Review › Forschung

Harvard

Arbustini, E, Behr, ER, Carrier, L, van Duijn, C, Evans, P, Favalli, V, van der Harst, P, Haugaa, KH, Jondeau, G, Kääb, S, Kaski, JP, Kavousi, M, Loeys, B, Pantazis, A, Pinto, Y, Schunkert, H, Di Toro, A, Thum, T, Urtis, M, Waltenberger, J & Elliott, P 2022, 'Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics', EUR HEART J, Jg. 43, Nr. 20, S. 1901-1916. https://doi.org/10.1093/eurheartj/ehab895

APA

Arbustini, E., Behr, E. R., Carrier, L., van Duijn, C., Evans, P., Favalli, V., van der Harst, P., Haugaa, K. H., Jondeau, G., Kääb, S., Kaski, J. P., Kavousi, M., Loeys, B., Pantazis, A., Pinto, Y., Schunkert, H., Di Toro, A., Thum, T., Urtis, M., ... Elliott, P. (2022). Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics. EUR HEART J, 43(20), 1901-1916. https://doi.org/10.1093/eurheartj/ehab895

Vancouver

Arbustini E, Behr ER, Carrier L, van Duijn C, Evans P, Favalli V et al. Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics. EUR HEART J. 2022 Mai 21;43(20):1901-1916. https://doi.org/10.1093/eurheartj/ehab895

Bibtex

@article{80345432669343429d99bc6c82c543d3,
title = "Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics",
abstract = "This document describes the contribution of clinical criteria to the interpretation of genetic variants using heritable Mendelian cardiomyopathies as an example. The aim is to assist cardiologists in defining the clinical contribution to a genetic diagnosis and the interpretation of molecular genetic reports. The identification of a genetic variant of unknown or uncertain significance is a limitation of genetic testing, but current guidelines for the interpretation of genetic variants include essential contributions from clinical family screening that can establish a de novo assignment of the variant or its segregation with the phenotype in the family. A partnership between clinicians and patients helps to solve major uncertainties and provides reliable and clinically actionable information.",
author = "Eloisa Arbustini and Behr, {Elijah R} and Lucie Carrier and {van Duijn}, Cornelia and Paul Evans and Valentina Favalli and {van der Harst}, Pim and Haugaa, {Kristina Hermann} and Guillaume Jondeau and Stefan K{\"a}{\"a}b and Kaski, {Juan Pablo} and Maryam Kavousi and Bart Loeys and Antonis Pantazis and Yigal Pinto and Heribert Schunkert and {Di Toro}, Alessandro and Thomas Thum and Mario Urtis and Johannes Waltenberger and Perry Elliott",
note = "{\textcopyright} Crown copyright 2022.",
year = "2022",
month = may,
day = "21",
doi = "10.1093/eurheartj/ehab895",
language = "English",
volume = "43",
pages = "1901--1916",
journal = "EUR HEART J",
issn = "0195-668X",
publisher = "Oxford University Press",
number = "20",

}

RIS

TY - JOUR

T1 - Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics

AU - Arbustini, Eloisa

AU - Behr, Elijah R

AU - Carrier, Lucie

AU - van Duijn, Cornelia

AU - Evans, Paul

AU - Favalli, Valentina

AU - van der Harst, Pim

AU - Haugaa, Kristina Hermann

AU - Jondeau, Guillaume

AU - Kääb, Stefan

AU - Kaski, Juan Pablo

AU - Kavousi, Maryam

AU - Loeys, Bart

AU - Pantazis, Antonis

AU - Pinto, Yigal

AU - Schunkert, Heribert

AU - Di Toro, Alessandro

AU - Thum, Thomas

AU - Urtis, Mario

AU - Waltenberger, Johannes

AU - Elliott, Perry

N1 - © Crown copyright 2022.

PY - 2022/5/21

Y1 - 2022/5/21

N2 - This document describes the contribution of clinical criteria to the interpretation of genetic variants using heritable Mendelian cardiomyopathies as an example. The aim is to assist cardiologists in defining the clinical contribution to a genetic diagnosis and the interpretation of molecular genetic reports. The identification of a genetic variant of unknown or uncertain significance is a limitation of genetic testing, but current guidelines for the interpretation of genetic variants include essential contributions from clinical family screening that can establish a de novo assignment of the variant or its segregation with the phenotype in the family. A partnership between clinicians and patients helps to solve major uncertainties and provides reliable and clinically actionable information.

AB - This document describes the contribution of clinical criteria to the interpretation of genetic variants using heritable Mendelian cardiomyopathies as an example. The aim is to assist cardiologists in defining the clinical contribution to a genetic diagnosis and the interpretation of molecular genetic reports. The identification of a genetic variant of unknown or uncertain significance is a limitation of genetic testing, but current guidelines for the interpretation of genetic variants include essential contributions from clinical family screening that can establish a de novo assignment of the variant or its segregation with the phenotype in the family. A partnership between clinicians and patients helps to solve major uncertainties and provides reliable and clinically actionable information.

U2 - 10.1093/eurheartj/ehab895

DO - 10.1093/eurheartj/ehab895

M3 - SCORING: Review article

C2 - 35089333

VL - 43

SP - 1901

EP - 1916

JO - EUR HEART J

JF - EUR HEART J

SN - 0195-668X

IS - 20

ER -