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RBM20 Variant Carriers Have Increased Arrhythmia, Heart Failure Risk

Variants in RBM20 are associated with an increased risk of malignant ventricular arrhythmia (MVA) and end-stage heart failure (ESHF), according to a new study in Circulation: Genomic and Precision Medicine. RBM20 is one of the more than 200 genes that have been linked to dilated cardiomyopathy, and variants in it are suspected to cause an especially malignant form of the disease. A University College London-led team examined data from 143 individuals who were carriers of pathogenic or likely pathogenic RBM20 variants with a median follow-up of 86 months. Thirty-six carriers, or about a quarter, experienced MVA and ESHF in that time, and the p.Arg634Gln variant increased that risk further, especially for MVA. Further, RBM20 variant carriers with left ventricular systolic dysfunction (LVSD) had a 6.0-fold increase in risk of MVA or ESHF, as compared to patients with idiopathic ventricular systolic dysfunction. While male and female RBM20 carriers have similar MVA risk, male carriers experienced earlier and more frequent ESHF. "Our findings emphasize the importance of family screening," the researchers add. "Nearly a third of relatives with no features of cardiomyopathy at baseline developed LVSD during follow-up."

The Scan

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