Early Detection of Genetic Cardiomyopathies in Relatives | 131 of GLS within multi-modality risk calculators should be explored to define its added value on top of validated risk models. MEDLINE n = 1345 Embase n = 2694 Cochrane n = 54 Removal of duplicates n = 1159 Included n = 28 Screening of title/abstract n = 2934 Total n = 4093 Screening of full text n = 55 Excluded by title/abstract n = 2879 Total studies included n = 29 Excluded by full text n = 27 Included by cross-referencing n = 1 HCM n = 11 ACM n = 11 DCM n = 6 NCCM n = 1 Figure 1. Flowchart A systematic search was conducted in MEDLINE, Embase and Cochrane databases. After applying the in- and exclusion criteria, 29 studies were included, of which 6 were performed in DCM, 11 in HCM, 11 in ACM and 1 in NCCM. ACM, arrhythmogenic cardiomyopathy; DCM, dilated cardiomyopathy; HCM, hypertrophic cardiomyopathy, NCCM, noncompaction cardiomyopathy. Regional deformation in DCM was investigated in one study. Taha et al.47 evaluated 139 preclinical relatives who carried the pathogenic phospholamban (PLN) p.(Arg14del) variant, causing a risk of DCM with features of ACM. In one-third of presymptomatic genotype-positive relatives, regional post-systolic shortening was found in the LV apex (Figure 2), which was absent in controls. Presence of apical post-systolic shortening was the strongest echocardiographic predictor of ventricular arrhythmias in presymptomatic relatives. This genotype-specific approach has led to the identification of deformation patterns which are characteristic of individuals with a specific genetic variant, allowing a more tailored approach. It would be interesting to characterize genotype-specific strain patterns in other variants, for example TTN and LMNA, to optimize early detection in relatives with a particular pathogenic variant. 7
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