Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

被引：326

作者：

Charron, Philippe ^{[2
]}

Arad, Michael ^{[3
,4
,5
]}

Arbustini, Eloisa ^{[6
]}

Basso, Cristina ^{[7
]}

Bilinska, Zofia ^{[8
]}

Elliott, Perry ^{[9
]}

Helio, Tiina ^{[10
]}

Keren, Andre ^{[11
]}

McKenna, William J. ^{[9
]}

Monserrat, Lorenzo ^{[12
]}

Pankuweit, Sabine ^{[13
]}

Perrot, Andreas ^{[14
]}

Rapezzi, Claudio ^{[15
,16
]}

Ristic, Arsen ^{[17
,18
]}

Seggewiss, Hubert ^{[19
]}

van Langen, Irene ^{[20
]}

Tavazzi, Luigi ^{[1
]}

机构：

[1] Maria Cecilia Hosp, GVM Care & Res, I-48010 Cotignola, RA, Italy

[2] Univ Paris 06, Hop La Pitie Salpetriere, AP HP, Ctr Reference Malad Cardiaques Hereditaires, Paris, France

[3] Tel Aviv Univ, Chaim Sheba Med Ctr, Inst Heart, Tel Aviv, Israel

[4] Tel Aviv Univ, Chaim Sheba Med Ctr, Heart Failure Serv, Tel Aviv, Israel

[5] Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel

[6] Acad Hosp IRCCS Fdn Policlin, Pavia, Italy

[7] Univ Padua, Sch Med, Dept Medicodiagnost Sci & Special Therapies Cardi, Padua, Italy

[8] Inst Cardiol, Unit Screening Studies Inherited Cardiovasc Dis, Warsaw, Poland

[9] UCL, Heart Hosp, London, England

[10] Univ Helsinki, Cent Hosp, Meilahti Hosp, Dept Med,Div Cardiol, Helsinki, Finland

[11] Hadassah Hebrew Univ Hosp, Jerusalem, Israel

[12] Complejo Hosp Univ A Coruna, Dept Cardiol, Inst Invest Biomed, La Coruna, Spain

[13] Univ Klinikum Giessen & Marburg GmbH, Kardiol Klin, Standort Marburg, Marburg, Germany

[14] Charite, ECRC, Max Delbruck Ctr Mol Med, CardioGenet Lab, D-13353 Berlin, Germany

[15] Univ Bologna, Inst Cardiol, Bologna, Italy

[16] St Orsola Marcello Malpighi Hosp, Bologna, Italy

[17] Clin Ctr Serbia, Dept Cardiol, Belgrade, Serbia

[18] Univ Belgrade, Sch Med, Belgrade, Serbia

[19] Leopoldina Krankenhaus Schweinfurt, Med Klin 1, Schweinfurt, Germany

[20] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands

来源：

EUROPEAN HEART JOURNAL | 2010年 / 31卷 / 22期

关键词：

Cardiomyopathy; Genetic counselling; Genetic testing; Predictive diagnosis; Prenatal diagnosis; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; BINDING PROTEIN-C; RIGHT-VENTRICULAR CARDIOMYOPATHY; CARDIAC TROPONIN-T; HEART-FAILURE; PLAKOPHILIN-2; MUTATIONS; PROGNOSTIC IMPLICATIONS; DILATED CARDIOMYOPATHY; SPORTS PARTICIPATION; MOLECULAR DIAGNOSIS;

D O I：

10.1093/eurheartj/ehq271

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Advances in molecular genetics present new opportunities and challenges for cardiologists who manage patients and families with cardiomyopathies. The aims of this position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases are to review the general issues related to genetic counselling, family screening and genetic testing in families with a cardiomyopathy, and to provide key messages and suggestions for clinicians involved in their management.

引用

页码：2715 / 2728B

页数：14

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