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This editorial summarizes recent research on the prognostic value of new genetic and imaging markers, such as myocardial deformation, for risk prediction in cardiomyopathies.
This editorial highlights the emerging role of genetic and imaging markers in improving risk prediction and management decisions for patients with cardiomyopathies.
Hypertrophic, (HCM), dilated (DCM) and arrhythmogenic cardiomyopathies (ACM) are a major 17 cause of heart failure and sudden death(1). Current management guidelines recommend the use of 18 risk stratification algorithms and more recently scores, to help with important decisions regarding 19 medication initiation/uptitration and devices use, including implantable cardioverter-defibrillators or 20 cardiac resynchronization therapy (2-5). These algorithms and scores are mainly comprised of 21 symptomatic status and a few imaging and/or ambulatory ECG markers. 22 23 A significant proportion of heart muscle disease is genetically caused and a pathogenic/likely 24 pathogenic variant can be found in around 40-50% of index cases (1). Advances in genetics have 25 allowed for an increasing diagnostic certainty and optimized family screening processes. An 26 influence of genetics in prognosis and outcomes has also been reported in the last few years, but it is 27 yet to be integrated in decision-making recommendations(6).
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Lopes et al. (2022) conducted an editorial in Cardiomyopathies. This editorial summarizes recent research on the prognostic value of new genetic and imaging markers, such as myocardial deformation, for risk prediction in cardiomyopathies.
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