Key result
Genetic sequencing of 312 probands with idiopathic dilated cardiomyopathy identified RBM20 rare variants in 1.9% of patients, which were associated with advanced disease and severe heart failure.
Why the study?
What is the prevalence and clinical phenotype of RBM20 mutations in patients with idiopathic dilated cardiomyopathy?
Population
312 probands with idiopathic dilated cardiomyopathy (DCM)
Design
Cohort
Authors
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RBM20 variants may flag high-risk idiopathic DCM for intensified surveillance; leaves open whether genotyping should guide therapy without prospective validation.
Cohort (n=312)
What is the prevalence and clinical phenotype of RBM20 mutations in patients with idiopathic dilated cardiomyopathy?
Mutations in the RBM20 gene are present in nearly 2% of idiopathic DCM cases and are associated with an aggressive clinical course.
Li et al. (2010) conducted a cohort in Dilated Cardiomyopathy (n=312). RBM20 genetic sequencing was evaluated on Prevalence of RBM20 rare variants. Genetic sequencing of 312 probands with idiopathic dilated cardiomyopathy identified RBM20 rare variants in 1.9% of patients, which were associated with advanced disease and severe heart failure.
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