Abstract 13159: Subclinical Cardiac Magnetic Resonance Imaging Reveals Subtle Myocardial Tissue Abnormalities in Individuals With Arrhythmogenic Cardiomyopathy-Associated Genetic Variants
| Autor: | Eric D Carruth, Sam Fielden, Amro Alsaid, Brandon Fornwalt, Christopher M Haggerty |
|---|---|
| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | Circulation. 144 |
| ISSN: | 1524-4539 0009-7322 |
| DOI: | 10.1161/circ.144.suppl_1.13159 |
| Popis: | Introduction: With expanding genomic sequencing, incidental identification of patients with disease-causing variants who do not have overt disease is increasingly common. For example, secondary findings of desmosome gene variants associated with arrhythmogenic cardiomyopathy (ACM) are recommended for clinical return but exhibit low penetrance. Additional biomarkers, such as myocardial tissue characteristics, are needed to uncover early disease in patients with genetic risk. Hypothesis: Patients with desmosome variants (G + ) but no clinical phenotype have abnormal ventricular volumes, left ventricular (LV) mass, native T1, T2, post-contrast T1, synthetic extracellular volume (sECV), and late gadolinium enhancement (LGE) via cardiac MRI. Methods: G + individuals were ascertained after clinical confirmation of likely pathogenic/pathogenic desmosome variants from 64548 sequenced Geisinger MyCode patients. MRI studies with myocardial mapping from a single scanner were included. Controls were identified from clinical MRI studies read as having normal biventricular structure and function. Patients who met diagnostic criteria for any cardiomyopathy were excluded from both groups. Ventricular volumes, mass, and tissue properties were defined by manual segmentation. Results: Qualifying studies were identified for 18 G + and 19 genotype unknown (G + ) controls, with similar age and sex. Biventricular volumes and function, as well as LV mass, were similar (Figure). Native T1 was elevated (mean±SEM 1027±9 ms G + vs. 979±15 ms G + ; p = 0.04). No significant differences were found in post-contrast T1, sECV, or native T2. Atypical LGE patterns were noted in 5/18 G + vs. 0/19 G + (p = 0.02). Conclusion: Elevated native T1 and atypical LGE, perhaps due to subclinical fibrosis, were detected in G + patients with normal mass and volume and no overt clinical cardiomyopathy. Longitudinal follow up with larger cohorts will help assess the prognostic significance of these findings. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|