Article
RBM20 Truncating Variants and Human Cardiomyopathy.
JAMA cardiology - 1 May 2026
Floyd Brendan J, Njoroge Joyce N, Krysov Vikki A, Gomes Bruna, Murtha Ryan, Aribeana Chiaka, Cannie Douglas, Smith Eric, Paldino Alessia, Brown Emily E, Barth Andreas, Ilhan Erkan, Johnson Renee, Wojciak Julianne, Alkhayat Mohamad, Graw Sharon, Medo Kristen, Haas Jan, Chahal C Anwar A, Fenzl Kai, Steinmetz Lars, Gollob Michael, Ashley Euan, Day Sharlene, Judge Daniel, Roberts Jason D, Vedantham Vasanth, Mao Chad Y, Fatkin Diane, Lakdawala Neal K, Taylor Matthew R G, Mestroni Luisa, Saguner Ardan M, Tayal Upasana, Cadrin-Tourigny Julia, Krahn Andrew D, James Cynthia, Dal Ferro Matteo, Sinagra Gianfranco, Merlo Marco, Owens Anjali, Reza Nosheen, Saberi Sara, Helms Adam, Elliott Perry, Meder Benjamin, Lancaster Megan, Parikh Victoria N
Abstract excerpt
Importance: Genetic diagnosis has become increasingly important to guide clinical decision-making for patients with dilated cardiomyopathy (DCM). Pathogenic or likely pathogenic (P/LP) missense variants in the gene RBM20 cause a highly penetrant arrhythmogenic DCM, but the role of RBM20 truncating variants (RBM20tvs) is unclear. Objective: To assess the contribution of RBM20 variants to arrhythmogenic DCM....
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