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Abstract #2639

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

As genomic screening initiatives expand, pre-symptomatic identification of genetic risk of disease is increasingly common. For example, Geisinger’s Genomic Screening and Counseling program has identified carriers of rare variants associated with arrhythmogenic cardiomyopathy, but most have no clinical diagnosis. We explored whether myocardial T1 or T2 maps or synthetic extracellular volume (sECV) in these patients could assist in risk stratification by identifying pre-clinical myocardial abnormalities. We compared these quantitative measures to those of controls with a normal cardiac MRI. Native T1 was significantly elevated in asymptomatic variant carriers; however, T2, post-contrast T1, and sECV values were comparable.

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