HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS)…

By M. Ackerman, S. Priori, S. Willems, C. Berul, R. Brugada, H. Calkins, A. Camm, P. Ellinor, M. Gollob, R. Hamilton and 11 more. Europace, 2011

1,312 citations recorded by the source corpus.

This international consensus statement provides the state of genetic testing for the channelopathies and cardiomyopathies. It summarizes the opinion of the international writing group members based on their own experience and on a general review of the literature with respect to the use and role of genetic testing for these potentially heritable cardiac conditions. This document focuses primarily on the state of genetic testing for the 13 distinct entities detailed and the relative diagnostic, prognostic, and therapeutic impact of the genetic test result for each entity. It does not focus on the therapeutic management of the various channelopathies and cardiomyopathies. Treatment/management issues are only discussed for those diseases (i.e., LQTS, HCM, DCM + CCD, RCM) in which the genetic test result could potentially influence treatment considerations. Writing recommendations for genetic diseases require adaptation of the methodology normally adopted to prepare guidelines for clinical practice. Documents produced by other scientific societies have acknowledged the need to define the criteria used to rank the strength of recommendation for genetic diseases.1 The most obvious difference is that randomized and/or blinded studies do not exist. Instead, most of the available data are derived from registries that have followed patients and recorded outcome information. The authors of this statement have therefore defined specific criteria for Class I, Class IIa or b, and Class III recommendations and have used the conventional language adopted by AHA/ACC/ESC Guidelines to express each class. All recommendations are level of evidence (LOE) C (i.e., based on experts' opinions). A Class I recommendation ( “is recommended” ) was applied for genetic testing in index cases with a sound clinical suspicion for the presence of a channelopathy or a cardiomyopathy when the positive predictive value of a genetic test is high (likelihood of positive result >40% and signal/noise ratio >10; Table 3), AND/OR when …

Subfields: Cardiology and Cardiovascular Medicine

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Citations in the corpus

ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure 2012 (2012, background): “The emerging role of genetic testing in ‘idiopathic’ dilated and hypertrophic cardiomyopathy is described in detail elsewhere.(16) Currently this is recommended in patients with dilated cardiomyopathy and AV block or a family history of premature unexpected sudden death, as a prophylactic implantabl”
HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. (2013, background): “Altogether mutations in RyR2 [107] and CASQ2 are found in only 60% of the CPVT patients [1] suggesting that other genes may be involved in CPVT.”
A Prospective Study of Sudden Cardiac Death among Children and Young Adults. (2016, neutral): “Sleep 139/365 (38) 59/199 (30) 80/166 (48) <0.”