Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics

被引：3

作者：

Elliott, Perry ^{[1
,2
]}

Schunkert, Heribert ^{[3
,4
]}

Bondue, Antoine ^{[5
]}

Behr, Elijah ^{[6
,7
,8
]}

Carrier, Lucie ^{[9
,10
]}

Van Duijn, Cornelia ^{[11
]}

Garcia-Pavia, Pablo ^{[12
]}

van der Harst, Pim ^{[13
]}

Kavousi, Maryam ^{[14
]}

Loeys, Bart ^{[15
,16
,18
]}

Lopes, Luis Rocha ^{[1
,2
]}

Pinto, Yigal ^{[17
]}

Di Toro, Alessandro

Thum, Thomas ^{[19
,20
]}

Kaeaeb, Stefan ^{[21
,22
]}

Urtis, Mario ^{[18
]}

Arbustini, Eloisa ^{[18
]}

机构：

[1] St Bartholomews Hosp, Barts Heart Ctr, Dept Inherited Cardiovasc Condit, London, England

[2] UCL, Inst Cardiovasc Sci, London, England

[3] Tech Univ Munich, Dept Cardiol, Deutsch Herzzentrum Munchen, Munich, Germany

[4] Deutsch Zentrum Herz & Kreislaufforschung DZHK, Munich Heart Alliance, Munich, Germany

[5] Hop Acad Erasme, Clin Univ Bruxelles, Dept Cardiol, Brussels, Belgium

[6] St Georges Univ London, Cardiol Res Ctr, London, England

[7] St Georges Univ London, Inst Mol & Clin Sci, Cardiovasc Acad Grp, London, England

[8] St Georges Univ Hosp NHS Fdn Trust, London, England

[9] Univ Med Ctr Hamburg Eppendorf, Inst Expt Pharmacol & Toxicol, Hamburg, Germany

[10] DZHK German Ctr Cardiovasc Res, Partner Site Hamburg Kiel Lubeck, Hamburg, Germany

[11] Univ Oxford, Nuffield Dept Populat Hlth, Oxford, England

[12] Hosp Univ Puerta Hierro Majadahonda, CIBERCV, Madrid, Spain

[13] Univ Med Ctr Utrecht, Dept Cardiol, Div Heart & Lungs, Utrecht, Netherlands

[14] Univ Med Ctr Rotterdam, Dept Epidemiol, Erasmus MC, Rotterdam, Netherlands

[15] Univ Antwerp, Antwerp Univ Hosp, Ctr Med Genet, Cardiogenom, Antwerp, Belgium

[16] Radboud Univ Nijmegen Med Ctr, Dept Human Genet, Nijmegen, Netherlands

[17] Amsterdam Univ Med Ctr, Dept Expt Cardiol, Amsterdam, Netherlands

[18] Fdn IRCCS Policlin San Matteo, Ctr Inherited Cardiovasc Dis, Dept Res, Pavia, Italy

[19] Hannover Med Sch, Inst Mol & Translat Therapeut Strategies IMTTS, Hannover, Germany

[20] Fraunhofer Inst Toxicol & Expt Med ITEM, Hannover, Germany

[21] LMU Univ Hosp Munich, Med Klin & Poliklin 1, Munich, Germany

[22] German Ctr Cardiovasc Res, Munich Heart Alliance, Munich, Germany

来源：

EUROPEAN HEART JOURNAL | 2024年

关键词：

Cardiomyopathies; genetic testing; CARDIOLOGY WORKING GROUP; TEST PREDICTION SCORE; POSITION STATEMENT; EUROPEAN-SOCIETY; MEDICAL GENETICS; AMERICAN-COLLEGE; VARIANTS; EXOME; RECOMMENDATIONS; CLASSIFICATION;

D O I：

10.1093/eurheartj/ehae747

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In the modern era, cardiologists managing patients and families with cardiomyopathies need to be familiar with every stage of the diagnostic pathway from clinical phenotyping to the prescription and interpretation of genetic tests. This clinical consensus statement from the ESC Council for Cardiovascular Genomics aims to promote the integration of genetic testing into routine cardiac care of patients with cardiomyopathies, as recommended in the 2023 ESC guidelines for cardiomyopathies. The document describes the types of genetic tests currently available and provides advice on their prescription and for counselling after the return of genetic findings, including the approach in patients and families with variants of unknown significance.

引用

页数：10

共 50 条

[11] Interaction of heart failure and stroke: A clinical consensus statement of the ESC Council on Stroke, the Heart Failure Association (HFA) and the ESC Working Group on Thrombosis
Doehner, Wolfram
Boehm, Michael
Boriani, Giuseppe
Christersson, Christina
Coats, Andrew J. S.
Haeusler, Karl Georg
Jones, Ian D.
Lip, Gregory Y. H.
Metra, Marco
Ntaios, George
Savarese, Gianluigi
Shantsila, Eduard
Vilahur, Gemma
Rosano, Giuseppe
EUROPEAN JOURNAL OF HEART FAILURE, 2023, 25 (12) : 2107 - 2129
[12] Stroke risk management in carotid atherosclerotic disease: a clinical consensus statement of the ESC Council on Stroke and the ESC Working Group on Aorta and Peripheral Vascular Diseases
Musialek, Piotr
Bonati, Leo H.
Bulbulia, Richard
Halliday, Alison
Bock, Birgit
Capoccia, Laura
Eckstein, Hans-Henning
Grunwald, Iris Q.
Lip, Peck Lin
Monteiro, Andre
Paraskevas, Kosmas, I
Podlasek, Anna
Rantner, Barbara
Rosenfield, Kenneth
Siddiqui, Adnan H.
Sillesen, Henrik
Van Herzeele, Isabelle
Guzik, Tomasz J.
Mazzolai, Lucia
Aboyans, Victor
Lip, Gregory Y. H.
CARDIOVASCULAR RESEARCH, 2024,
[13] State of the art and perspectives of gene therapy in heart failure. A scientific statement of the Heart Failure Association of the ESC, the ESC Council on Cardiovascular Genomics and the ESC Working Group on Myocardial & Pericardial Diseases
Van Linthout, Sophie
Stellos, Konstantinos
Giacca, Mauro
Bertero, Edoardo
Cannata, Antonio
Carrier, Lucie
Garcia-Pavia, Pablo
Ghigo, Alessandra
Gonzalez, Arantxa
Haugaa, Kristina H.
Imazio, Massimo
Lopes, Luis R.
Most, Patrick
Pollesello, Piero
Schunkert, Heribert
Streckfuss-Boemeke, Katrin
Thum, Thomas
Tocchetti, Carlo Gabriele
Tschoepe, Carsten
van der Meer, Peter
van Rooij, Eva
Metra, Marco
Rosano, Giuseppe M. C.
Heymans, Stephane
EUROPEAN JOURNAL OF HEART FAILURE, 2025, 27 (01) : 5 - 25
[14] HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies (vol 13, pg 1077, 2011)
Ackerman, Michael J.
Priori, Silvia G.
Willems, Stephan
Berul, Charles
Brugada, Ramon
Calkins, Hugh
Camm, A. John
Ellinor, Patrick T.
Gollob, Michael
Hamilton, Robert
Hershberger, Ray E.
Judge, Daniel P.
Le Marec, Herve
McKenna, William J.
Schulze-Bahr, Eric
Semsarian, Chris
Towbin, Jeffrey A.
Watkins, Hugh
Wilde, Arthur
Wolpert, Christian
Zipes, Douglas P.
Probst, Vincent
Schwartz, Peter J.
Kaeaeb, Stefan
Kirchhof, Paulus
EUROPACE, 2012, 14 (02): : 277 - 277
[15] Hybrid cardiovascular imaging: a clinical consensus statement of the European Association of Nuclear Medicine (EANM) and the European Association of Cardiovascular Imaging (EACVI) of the ESC
Caobelli, Federico
Balmforth, Craig
Dweck, Marc R.
Albano, Domenico
Gheysens, Olivier
Georgoulias, Panagiotis
Nekolla, Stephan
Lairez, Olivier
Leccisotti, Lucia
Lubberink, Mark
Massalha, Samia
Nappi, Carmela
Rischpler, Christoph
Saraste, Antti
Hyafil, Fabien
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING, 2025, 26 (03) : 566 - 568
[16] Hybrid cardiovascular imaging. A clinical consensus statement of the european association of nuclear medicine (EANM) and the european association of cardiovascular imaging (EACVI) of the ESC
Caobelli, Federico
Dweck, Marc R.
Albano, Domenico
Gheysens, Olivier
Georgoulias, Panagiotis
Nekolla, Stephan
Lairez, Olivier
Leccisotti, Lucia
Lubberink, Marc
Massalha, Samia
Nappi, Carmela
Rischpler, Christoph
Saraste, Antti
Hyafil, Fabien
EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING, 2025, 52 (03) : 1095 - 1118
[17] Digital health in older adults for the prevention and management of cardiovascular diseases and frailty. A clinical consensus statement from the ESC Council for Cardiology Practice/Taskforce on Geriatric Cardiology, the ESC Digital Health Committee and the ESC Working Group on e-Cardiology
Guasti, Luigina
Dilaveris, Polychronis
Mamas, Mamas A.
Richter, Dimitrios
Christodorescu, Ruxandra
Lumens, Joost
Schuuring, Mark J.
Carugo, Stefano
Afilalo, Jonathan
Ferrini, Marc
Asteggiano, Riccardo
Cowie, Martin R.
ESC HEART FAILURE, 2022, 9 (05): : 2808 - 2822
[18] THE UTILITY OF GENETIC TESTING IN NEUROMUSCULAR DISEASE: A CONSENSUS STATEMENT FROM THE AANEM ON THE CLINICAL UTILITY OF GENETIC TESTING IN DIAGNOSIS OF NEUROMUSCULAR DISEASE
Kassardjian, Charles D.
Amato, Anthony A.
Boon, Andrea J.
Childers, Martin K.
Klein, Christopher J.
MUSCLE & NERVE, 2016, 54 (06) : 1007 - 1009
[19] Czech Association for Preventive Cardiology Expert Consensus Statement on the State of Genetic Testing for Inherited Cardiovascular Diseases
Krebsova, Alice
Kutilkova, Eva
Zoubkova, Veronika
Tavacova, Terezia
Peldova, Petra
Piherova, Lenka
Votypka, Pavel
Kucerova, Stepanka Pohlova
Grochova, Ilga
Gregorova, Andrea
Zakova, Daniela
Freiberger, Tomas
Janousek, Jan
Novotny, Tomas
Macek, Milan
COR ET VASA, 2023, 65 (05) : 798 - 805
[20] Renal denervation in the management of hypertension in adults. A clinical consensus statement of the ESC Council on Hypertension and the European Association of Percutaneous Cardiovascular Interventions (EAPCI)(vol 44, pg 1313, 2023)
不详
EUROPEAN HEART JOURNAL, 2023, 44 (27) : 2439 - 2439

← 1 2 3 4 5 →