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Deep phenotyping of individuals with arrhythmogenic cardiomyopathy-associated genetic variants using myocardial T1 and T2 mapping

Eric D Carruth¹, Samuel W Fielden¹, Amro Alsaid¹, Brandon K Fornwalt¹, and Christopher M Haggerty¹
¹Geisinger, Danville, PA, United States

In 18 individuals identified with genetic risk for arrhythmogenic cardiomyopathy from population genomic screening, we observed increased native myocardial T1, but unchanged T2, post-contrast T1, and sECV compared with controls.

Figure 1. Summary of comparisons between genotype-positive (G⁺) individuals and controls (G^?). Values shown are mean±SEM, unless otherwise indicated. LVEF-left ventricular ejection fraction, RVEF-right ventricular ejection fraction, LGE-late gadolinium enhancement, sECV-synthetic extracellular volume. *p<0.05.

Figure 2. Native T1 maps in A) G^? control and B) G⁺ variant-positive individuals. Representative patients were selected as those with the median native T1 value across each group. While subtle, elevated T1 values in the myocardium of the G⁺ patient left ventricle (LV) are evident.