Diagnosing arrhythmogenic ventricular cardiomyopathy: a re-appraisal of the role and normal range of the signal-averaged ECG

Abstract

Abstract Funding Acknowledgements Type of funding sources: None. Introduction The 2010 Task Force Criteria (TFC) for the diagnosis of arrhythmogenic right ventricular cardiomyopathy (A(R)VC) in 1st degree relatives includes an abnormality in a single parameter of the signal averaged ECG (SAECG). SAECG normal ranges were derived predominately from ischaemic heart disease patients, so may not be applicable in an A(R)VC population. There remain concerns that the SAECG is not specific enough and its role in the diagnosis of A(R)VC is under scrutiny. Purpose to improve the diagnostic utility of the SAECG Methods Patients with an A(R)VC diagnosis and 1st degree family members (FM) under follow-up at a single inherited cardiac conditions (ICC) centre were included. All cases were independently reviewed by 3 cardiologists experienced in the diagnosis and management of A(R)VC. All SAECGs included were free from artefact. TFC clinical variables and genetic status were recorded for each patient. Where tests had been repeated the most recent values were used. Because of concerns about the use of a single abnormal SAECG parameter in making a clinical diagnosis we required ≥2 abnormal SAECG parameters, or a confirmed genetic mutation to make a diagnosis. A diagnosis of false positive SAECG was made with ≥2 abnormalities when the individual was known not to carry the familial pathogenic mutation. Results A study population of 160 patients (male 103 (64%), age 46yrs (range 18-85yrs); 41 pro-bands and 119 FM. 62(52%) FM had a clinical diagnosis of AVC, with ARVC the pre-dominant phenotype 51(82%). A pathogenic genetic variant was identified in 24(47%) of FM with ARVC. The SAECG data is presented graphically for each parameter. A clinical diagnosis of ARVC was made on the basis of an affected 1st degree FM and an abnormal SAECG in 24(47%) of FM. Of these, 16(67%) had three abnormal SAECG parameters, 6(25%) two and 2(8%) a single abnormal parameter. Both patients with only one abnormal SAECG parameter carry a pathogenic variant. In total 88% of FM with ARVC, and 32% of FM without AVC had an abnormal SAECG as per current TFC. False positive values were mainly in fQRS duration (17/18), but also LAS40 (5/18), and RMS40 (2/18). By redefining an abnormal fQRS duration to be ≥118ms, false positives are reduced from 17 to 4. In addition, if there is a requirement for a 2nd abnormality then the false positives are reduced to 2 (4%). By adjusting the diagnostic criteria to fQRS duration ≥118ms, with a 2nd abnormal parameter or known pathogenic gene carrier status none of the 24 FM with a clinical diagnosis on abnormal SAECG alone would change diagnostic classification. Conclusion The SAECG is useful in family screening as it is frequently the only test to show an abnormality. However, the current TFC reference values lack specificity. By redefining an abnormal fQRS as ≥118ms with the requirement of a 2nd abnormal parameter, specificity is increased to 96%, with no significant change in sensitivity. Abstract Figure. SAECG Parameters in Family Members