The utility of the 1994 versus the revised 2010 Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Task Force diagnostic criteria for identifying mutation-positive probands with ARVC

Lukhna, Kishal

The utility of the 1994 versus the revised 2010 Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Task Force diagnostic criteria for identifying mutation-positive probands with ARVC

Master Thesis

2021

Abstract

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disorder characterised by structural and functional abnormalities of the right ventricle with or without left ventricular involvement. In 1994, Task Force criteria (TFC) were proposed for the diagnosis of ARVC and were found to be highly specific but lacked sensitivity. In 2010, revised TFC were proposed to increase sensitivity and facilitate diagnosis in those with subtle phenotypes. Purpose: Many participants of ARVC registries have been enrolled using the 1994 TFC and not re-analysed using the 2010 TFC. We retrospectively compared the utility of both TFC for the diagnosis of mutation-positive probands in the IMHOTEP (The African Cardiomyopathy and Myocarditis Registry Program) study with the aim of identifying diagnostic changes that may have clinical impact. Method: 162 participants with the suspicion of ARVC were referred between May 2003 and May 2018 to our ARVC registry. 150 cases were reviewed using the same ECG and imaging data to fulfil both TFC, and were re-classified by a diagnostic panel at Groote Schuur Hospital, Cape Town. Results: Sixty-eight participants were diagnosed with ARVC by the diagnostic panel and included into the registry; 14/68 participants with ARVC were found to be mutation-positive. Eighty-two participants were found to have an alternative diagnosis or insufficient criteria and were excluded from the ARVC registry. Mutation-positive probands presented at a significantly younger age compared to the mutation-negative group (29 ± 14 years versus 39 ± 13 years, p=0.009), suggesting an earlier onset of ARVC. Common reasons for presentation in the mutation-positive cohort included palpitations (79%) and presyncope (64%), with Page 11 of 78 approximately twice the number of participants presenting with sustained ventricular tachycardia (VT) compared to mutation-negative participants (79% versus 47%, p=0.036). The diagnostic yield of the 2010 versus 1994 TFC (n=68) revealed more participants with a definite diagnosis, and less featuring in possible and no criteria categories. A 67% (n=8) change in diagnosis from 1994 borderline to 2010 definite, and an 88% (n=7) change from 1994 possible to 2010 borderline, were observed. Mutation-positive participants had a higher yield for definite ARVC when compared to mutation-negative participants. We subsequently analysed the contribution of each diagnostic modality at fulfilling TFC in our mutation-positive definite participants and found CMR contribution statistically significant, p=0.021. Conclusion: Our study found that mutation-positive probands were found to be younger, more likely to present with sustained VT, fulfilled a significantly larger number of major 2010 TFC than mutation-negative probands, and that the 2010 TFC for structural and repolarisation abnormalities were more useful in diagnosing ARVC compared to 1994 TFC. We found a significant evolution in classification between both TFC, suggesting that re-classification of participants recruited in traditional ARVC registries according to updated criteria is worthwhile.

Keywords

Medicine

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