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Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics.

Circulation. Genomic and precision medicine - 1 Oct 2022

Nafissi Navid A, Abdulrahim Jawan W, Kwee Lydia Coulter, Coniglio Amanda C, Kraus William E, Piccini Jonathan P, Daubert James P, Sun Albert Y, Shah Svati H

Abstract excerpt

BACKGROUND: Inherited primary arrhythmia syndromes and arrhythmogenic cardiomyopathies can lead to sudden cardiac arrest in otherwise healthy individuals. The burden and expression of these diseases in a real-world, well-phenotyped cardiovascular population is not well understood. METHODS: Whole exome sequencing was performed on 8574 individuals from the CATHGEN cohort (Catheterization Genetics). Variants in 55...

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Arrhythmias, Cardiac
Cardiomyopathies
Cardiomyopathy, Hypertrophic
Electronic Health Records
Phenotype

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PMID: 36136372
DOI: 10.1161/CIRCGEN.121.003675
PMCID: PMC9588708

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