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

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