Expanding Horizons in Dilated Cardiomyopathy: A Comprehensive Genetic Reassessment in 2024
Highlight
The 2024 reassessment of dilated cardiomyopathy (DCM) genes by the Clinical Genome Resource (ClinGen) has expanded the catalog of high-evidence disease genes from 19 to 35. This review incorporates 72 gene-disease-mode of inheritance (MOI) relationships involving 68 genes, including nine newly identified high-evidence genes and multiple autosomal recessive inheritance patterns.
Significant refinement in gene validity classifications was noted, including clinically relevant upgrades of previously low-evidence genes, enhancing the robustness and clinical applicability of genetic testing in DCM.
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This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.