194 | Chapter 9 interest from both vendors and academic researchers already led to great achievements in this field. To identify knowledge gaps and the necessary steps to accelerate clinical implementation of the technique, we conducted a systematic review in Chapter 7, focusing on the utility of deformation imaging for family screening in genetic cardiomyopathies. The main observations that were reproduced in different cohorts were (1) reduced global longitudinal LV strain in relatives at risk of DCM, (2) reduced basal septal strain in relatives at risk of HCM, (3) reduced RV free wall strain in relatives at risk of ARVC. The next step towards wider implementation of the technique most likely is inclusion in clinical guidelines. Along with guideline recognition, reimbursement of the technique is another hurdle which has recently been successfully taken in the United States. The recently updated 2023 European guideline on the management of genetic cardiomyopathies already mentions the added value of deformation imaging as a sensitive marker to detect subtle ventricular dysfunction in genotype-positive HCM, DCM and ARVC family members.3 Furthermore, mechanical dispersion (Chapter 3, 7 and 8) is mentioned as a marker of contraction inhomogeneity that might highlight fine structural changes that may be missed by other modalities. In the 2022 European guideline on management of patients with ventricular arrhythmias and the prevention of sudden cardiac death32, it is stated that global longitudinal strain can be used as a measure to detect subtle changes while ejection fraction is still preserved and mechanical dispersion as an index associated with increased risk of ventricular arrhythmia. To let deformation imaging play a decisive role in clinical management, added value of the technique on top of current clinical practice should be shown with regard to hard clinical endpoints. Chapter 8 might be an example of such a study, being the first to show added value of deformation imaging in a clinical practice-based, multimodality approach. External validation of these results in a large multicenter cohort will be the next important step. Another focus for future studies is to test the predictive value of deformation imaging in other cardiomyopathies. Moreover, rather than using a phenotypical approach, these studies might have to shift towards a gene-based (or even gene variant-based) risk stratification approach. Closing remarks If there is one thing that I have learned from doing research in the field of genetic cardiomyopathies, it is that collaboration is the central and most important theme. All chapters in this thesis are the result of collaborations between research groups, both national and international. Looking at the future steps which should be taken, global collaboration is becoming even more essential. The shift towards practicing precision medicine creates a need for ever larger multicenter cohorts with more events. In addition to willingness to share data, this requires an effort in harmonization of databases, not to mention infrastructure and legislation that facilitate collaborations exceeding the hospital walls.
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