Monitoring of Myocardial Involvement in ARVC | 115 ECG and cardiac imaging every 1-3 years starting at 10-12 years of age.7 In a cohort study of ARVC patients who presented ≥50 years of age, ventricular tachycardia and pre-existing structural abnormalities were common, but SCD was not observed during follow-up.5 The latter raises the question at what age you can stop the frequent and demanding screening of ARVC patients and relatives. 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 While conventional echocardiographic TFC lack sensitivity for detection of early disease substrates28,29, this study supports the use of deformation imaging as a robust method for monitoring of ARVC patients and family members in the outpatient department. Our study showed similar patterns of myocardial disease progression in young, middle-aged, and older patients without an overt structural ARVC phenotype at first evaluation. These findings contradict the statement of completed penetrance after 50 years of age and do not support age-tailoring of cardiac imaging follow-up intervals at the outpatient department. Since other studies reported low risks of SCD in older relatives, structural progression in this group may be less alarming when compared to progression in younger relatives. However, of the 6 cases in which progression was followed by VA, two experienced a first event at the age of 64 and 65 years. Deformation imaging provides an important additional tool for detection of ARVC disease manifestation and progression in an early stage, but should always be used in a multimodality setting, as described in the 2019 expert consensus statement7. When adhering to the recommended follow-up interval of 1-3 years, normal RV deformation can support clinicians in applying the longer interval whereas development of deformation abnormalities can be a warrant to reevaluate the patient earlier. Based on deformation imaging characteristics, the Digital Twin can translate myocardial behaviour to valuable information on regional tissue properties. This can potentially be used to individualize risk assessment and to link genotype to phenotype. We have developed this method in subjects at risk of ARVC, but in the current era where family screening and genetic testing is increasingly performed, deformation imaging36 and Digital Twins can be easily applied in other cardiomyopathies as well. Limitations The single-center design was a limitation to this study. Due to the high prevalence of patients with (likely-) pathogenic variants in the PKP2 gene, the generalizability to patient populations with other dominating variants is uncertain. Future multicenter cohort studies should perform a genotype-specific approach to test the generalizability to for instance DSP variant carriers, in which LV disease manifestation is often more pronounced.7 Since we excluded patients with overt structural disease or sustained VA at first evaluation, our cohort had a lower event rate than the average ARVC cohort. This resulted in a group of 6 patients who experienced sustained VA during follow-up, which is insufficient to search for risk factors in deformation imaging or estimated tissue properties on a group level. 6
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