2014 ESC Guidelines on diagnosis and management of …

European Heart Journal doi:10.1093/eurheartj/ehu284a

ESC GUIDELINES

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: web addenda

The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC)

Authors/Task Force Members: Perry M. Elliott* (Chairperson) (UK), Aris Anastasakis (Greece), Michael A. Borger (Germany), Martin Borggrefe (Germany), Franco Cecchi (Italy), Philippe Charron (France), Albert Alain Hagege (France), Antoine Lafont (France), Giuseppe Limongelli (Italy), Heiko Mahrholdt (Germany), William J. McKenna (UK), Jens Mogensen (Denmark), Petros Nihoyannopoulos (UK), Stefano Nistri (Italy), Petronella G. Pieper (Netherlands), Burkert Pieske (Austria), Claudio Rapezzi (Italy), Frans H. Rutten (Netherlands), Christoph Tillmanns (Germany), and Hugh Watkins (UK).

Additional Contributor: Constantinos O'Mahony (UK).

ESC Committee for Practice Guidelines (CPG): Jose Luis Zamorano (Chairperson) (Spain), Stephan Achenbach (Germany), Helmut Baumgartner (Germany), Jeroen J. Bax (Netherlands), He? ctor Bueno (Spain), Veronica Dean (France), Christi Deaton (UK), ?etin Erol (Turkey), Robert Fagard (Belgium), Roberto Ferrari (Italy), David Hasdai (Israel), Arno W. Hoes (Netherlands), Paulus Kirchhof (Germany/UK), Juhani Knuuti (Finland), Philippe Kolh (Belgium), Patrizio Lancellotti (Belgium), Ales Linhart (Czech Republic), Petros Nihoyannopoulos (UK), Massimo F. Piepoli (Italy), Piotr Ponikowski (Poland), Per Anton Sirnes (Norway), Juan Luis Tamargo (Spain), Michal Tendera (Poland), Adam Torbicki (Poland), William Wijns (Belgium), and Stephan Windecker (Switzerland).

* Corresponding author: Perry M. Elliott, Cardiology Department, The Heart Hospital, 16-18 Westmoreland Street, London W1G 8PH, United Kingdom, Tel: +44 203 456 7898, Email: perry.elliott@ucl.ac.uk

Other ESC entities having participated in the development of this document: Associations: European Association of Cardiovascular Imaging (EACVI), European Association of Percutaneous Cardiovascular Interventions (EAPCI), European Heart Rhythm Association (EHRA), Heart Failure Association of the ESC (HFA).

Working Groups: Cardiovascular Pharmacology and Drug Therapy, Working Group on Cardiovascular Surgery, Working Group on Developmental Anatomy and Pathology, Working Group on Grown-up Congenital Heart Disease, Working Group on Myocardial and Pericardial Diseases.

Councils: Cardiology Practice, Cardiovascular Primary Care. The content of these European Society of Cardiology (ESC) Guidelines has been published for personal and educational use only. No commercial use is authorized. No part of the ESC Guidelines may be translated or reproduced in any form without written permission from the ESC. Permission can be obtained upon submission of a written request to Oxford University Press, the publisher of the European Heart Journal and the party authorized to handle such permissions on behalf of the ESC.

Disclaimer: The ESC Guidelines represent the views of the ESC and were produced after careful consideration of the scientific and medical knowledge and the evidence available at the time of their dating.

The ESC is not responsible in the event of any contradiction, discrepancy and/or ambiguity between the ESC Guidelines and any other official recommendations or guidelines issued by the relevant public health authorities, in particular in relation to good use of health care or therapeutic strategies. Health professionals are encouraged to take the ESC Guidelines fully into account when exercising their clinical judgment, as well as in the determination and the implementation of preventive, diagnostic or therapeutic medical strategies. However, the ESC Guidelines do not override, in any way whatsoever, the individual responsibility of health professionals to make appropriate and accurate decisions in consideration of each patient's health condition and in consultation with that patient and, where appropriate and/or necessary, the patient's caregiver. Nor do the ESC Guidelines exempt health professionals from taking careful and full consideration of the relevant official updated recommendations or guidelines issued by the competent public health authorities in order to manage each patient's case in light of the scientifically accepted data pursuant to their respective ethical and professional obligations. It is also the health professional's responsibility to verify the applicable rules and regulations relating to drugs and medical devices at the time of prescription.

National Cardiac Societies document reviewers: listed in Appendix 1

& The European Society of Cardiology 2014. All rights reserved. For permissions please email: journals.permissions@.

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ESC Guidelines

Document Reviewers: David Hasdai (Israel) (CPG Review Coordinator), Piotr Ponikowski (Poland) (CPG Review Coordinator), Stephan Achenbach (Germany), Fernando Alfonso (Spain), Cristina Basso (Italy), Nuno Miguel Cardim (Portugal), Juan Ramo? n Gimeno (Spain), Stephane Heymans (Netherlands), Per Johan Holm (Sweden), Andre Keren (Israel), Paulus Kirchhof (Germany/UK), Philippe Kolh (Belgium), Christos Lionis (Greece), Claudio Muneretto (Italy), Silvia Priori (Italy), Maria Jesus Salvador (Spain), Christian Wolpert (Germany), Jose Luis Zamorano (Spain).

The disclosure forms of the authors and reviewers are available on the ESC website guidelines

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Keywords

Guideline Diagnosis Cardiac imaging Genetics Symptoms Heart failure Arrhythmia Left

ventricular outflow tract obstruction Sudden cardiac death Implantable cardioverter defibrillators

Pregnancy Athletes Hypertension Valve disease

Web addenda

Web Table 1: Summary of studies reporting prevalence and incidence of hypertrophic cardiomyopathy

First author (year)

Hada et al 19873

Codd et al 19894 Maron et al 19955 Corrado et al 19986

Maron et al 19997

Nistri et al 20038

Zou et al 20049 Maron et al 200410 Maro et al 200611

Ng et al 201112

Lipshultz et al 200313 Nugent et al 200514

Study design

Echocardiography after screening/clinical evaluation Registry study Population screened by echocardiography Echocardiography after screening/clinical evaluation Echocardiography after screening/clinical evaluation Echocardiography after screening/clinical evaluation Population screened by echocardiography Population screened by echocardiography Echocardiography after screening/clinical evaluation Echocardiography after screening/clinical evaluation Registry study Registry study

HCM prevalence % or

Incidence/100 000 0.17% 0.02% 0.17% 0.07%

0.19%a

0.05% 0.16% 0.23% 0.19%

0.005% 0.47/100 000 0.32/100 000

Mean age at diagnosis (years)

Males (%)

47

91%

59

60%

30

71%

20

91%

57a

51%a

19

Only males were studied

52

69%

64

50%

55

68%

19.5

Only males were studied

5.9

N/A

0.47

69

aRefers only to patients with de novo diagnosis. N/A ? not available.

ESC Guidelines

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Web Table 2: Main genes associated with familial hypertrophic cardiomyopathy (Online Mendelian Inheritance in Man OMIM phenotypic series, 192600)21

Protein Myosin-7 (?-myosin heavy chain) Myosin-binding protein C, cardiac-type Troponin T, cardiac muscle Troponin I, cardiac muscle Tropomyosin alpha-1 chain Myosin regulatory light chain 2, ventricular/cardiac muscle isoform Myosin light chain 3 Actin, alpha cardiac muscle 1 Cysteine and glycine-rich protein 3, muscle LIM protein Titin Cardiac phospholamban 5'-AMP-activated protein kinase subunit gamma-2 Alpha galactosidase A (Anderson Fabry disease) Lysosome membrane associated protein 2 (Danon disease)

Gene MYH7 MYBPC3 TNNT2 TNNI3 TPM1 MYL2 MYL3 ACTC1 CSRP3 TTN PLN PRKAG2 GLA LAMP2

Location 14q11.2 11p11.2 1q32.1 19q13.42 15q22.2 12q24.11 3p21.31 15q14 11p15.1 2q31.2 6q22.31 7q36.1 Xq22.1 Xq24

MIM gene 160760 600958 191045 191044 191010 160781 160790 102540 600824 188840 172405 602743 300644 309060

Frequency 10?20% 15?30% 3?5%

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