Abstract 10960: Genetic Overlap of Acute Myocarditis and Inherited Cardiomyopathy
| Autor: | Amrit S Lota, Mark Hazebroek, Pantazis Theotokis, Rebecca Wassall, Sara Salmi, Brian Halliday, Upasana Tayal, Job Verdonschot, Devendra Meena, Antonio de Marvao, Alma Iacob, Daniel Hammersley, Richard Jones, Rick Wage, Rachel Buchan, Momina Yazdani, Michela Noseda, Tarun Mittal, Joyce Wong, Jan Lukas Robertus, John Baksi, Vassilios Vassiliou, Ioanna Tzoulaki, Antonios Pantazis, John Cleland, Paul J Barton, stuart cook, Dudley J Pennell, Pablo Garcia-Pavia, Leslie T Cooper, Stephane Heymans, James S Ware, Sanjay K Prasad |
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| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | Circulation. 144 |
| ISSN: | 1524-4539 0009-7322 |
| DOI: | 10.1161/circ.144.suppl_1.10960 |
| Popis: | Background: Myocarditis may predispose to dilated cardiomyopathy (DCM) and sudden cardiac death (SCD). Familial data indicate a potential genetic susceptibility shared with arrhythmogenic cardiomyopathy (ACM). We present the first large-scale genotype-phenotype study of adults with acute myocarditis. Methods: A cohort comprising 336 consecutive patients with acute myocarditis was enrolled in London and Maastricht. All participants underwent targeted DNA sequencing for well-characterised cardiomyopathy-associated genes. The burden of rare protein altering variants (PAV) in ACM genes, DCM genes, and TTN specifically, were compared with local healthy controls sequenced on the same platform (n=1053). Case ascertainment was assessed against national hospital admission data. Results: We identified rare protein-altering variants in 23% of cases compared to 16% in controls (Δ+6.8%; p=0.021), with rare truncating variants (tv) in 6% of cases compared to Conclusion: We identified enrichment of cardiomyopathy gene variants in acute myocarditis patients, dominated by DSP-tv in those with normal LVEF and TTN-tv in those with reduced LVEF. Incorporation of genetic testing may be beneficial to identify such high-risk individuals and guide family screening in acute myocarditis patients. |
| Databáze: | OpenAIRE |
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