Article
Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants.
Circulation. Genomic and precision medicine - 1 Apr 2021
Carruth Eric D, Beer Dominik, Alsaid Amro, Schwartz Marci L B, McMinn Megan, Kelly Melissa A, Buchanan Adam H, Nevius Christopher D, Calkins Hugh, James Cynthia A, Murray Brittney, Tichnell Crystal, Matsumura Martin E, Kirchner H Lester, Fornwalt Brandon K, Sturm Amy C, Haggerty Christopher M
Abstract excerpt
BACKGROUND: Genomic screening holds great promise for presymptomatic identification of hidden disease, and prevention of dramatic events, including sudden cardiac death associated with arrhythmogenic cardiomyopathy (ACM). Herein, we present findings from clinical follow-up of carriers of ACM-associated pathogenic/likely pathogenic desmosome variants ascertained through genomic screening. METHODS: Of 64 548...
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