Monitoring of Myocardial Involvement in ARVC | 105 INTRODUCTION Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable cardiomyopathy characterized by fibrofatty replacement of primarily the right ventricular (RV) myocardium, providing a substrate for potentially life-threatening ventricular arrhythmias (VA).1,2 Variable disease expression is found in familial ARVC3, ranging from sudden cardiac death (SCD) in young individuals to a lifelong absence of any phenotype. To prevent SCD in apparently healthy carriers of disease causing genetic variants, early detection of potentially pro-arrhythmic tissue substrates is important to guide follow-up, anti-arrhythmic treatment, and timing of ICD-implantation. ARVC has an age-related penetrance, whereby patients classically present in the third or fourth decade of life with symptomatic ventricular arrhythmias.3–7 However, with increased use of genetic testing for ARVC, carriers of a (likely-)pathogenic variant across all age-groups are recognized and included in extensive cardiac screening protocols, including noninvasive cardiac imaging examinations for detection of early disease. Presence and especially progression of functional abnormalities caused by structural disease of myocardial tissue is an important risk marker for occurrence of VA in ARVC.8–13 It is, however, currently not known whether structural disease progression occurs in all age-groups, hampering age-tailored follow-up protocols. In a position statement from 2010, it was suggested that serial screening of relatives can be stopped at the age of 50-60 years, due to completed penetrance.14 Therefore, we hypothesized that structural progression in early-stage ARVC occurs in early life and midlife, while progression above the age of 50 years old is limited. Conventional echocardiographic measurements in combination with visual assessment of wall motion abnormalities, as described in the 2010 diagnostic task force criteria (TFC)15, lack sensitivity for detection of early structural disease substrates in ARVC.16,17 Over the past decade, echocardiographic deformation imaging has emerged as a valuable tool for both early detection and prognosis in ARVC.8,9,18–22 In this study, we used echocardiographic deformation imaging for monitoring of myocardial disease progression in patients with early-stage ARVC. To create a link between myocardial function and tissue substrates, we combined these clinical deformation imaging data with a recently developed patient-specific computer simulation technology.23 This technology was used to create a series of Digital Twins of each patient’s heart, providing unique insight in the development of regional RV tissue properties underlying the regional myocardial deformation abnormalities. Insight in the evolution of tissue substrates of individual patients may aid better prediction of unfavourable outcome. By using echocardiographic deformation imaging and the related patient-specific simulations of cardiac mechanics, we aimed to evaluate structural progression in different stages of life in order to assess the need for age-tailoring of follow-up protocols in early-stage ARVC. 6
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