Details

Autor(en) / Beteiligte

• Cannie, Douglas E
• Protonotarios, Alexandros
• Bakalakos, Athanasios
• Syrris, Petros
• Lorenzini, Massimiliano
• De Stavola, Bianca
• Bjerregaard, Louise
• Dybro, Anne M
• Hey, Thomas M
• Hansen, Frederikke G
• Navarro Peñalver, Marina
• Crespo-Leiro, Maria G
• Larrañaga-Moreira, Jose M
• de Frutos, Fernando
• Johnson, Renee
• Slater, Thomas A
• Monserrat, Lorenzo
• Sengupta, Anshuman
• Mestroni, Luisa
• Taylor, Matthew R G
• Sinagra, Gianfranco
• Bilinska, Zofia
• Solla-Ruiz, Itziar
• Arana Achaga, Xabier
• Barriales-Villa, Roberto
• Garcia-Pavia, Pablo
• Gimeno, Juan R
• Dal Ferro, Matteo
• Merlo, Marco
• Wahbi, Karim
• Fatkin, Diane
• Mogensen, Jens
• Rasmussen, Torsten B
• Elliott, Perry M

Titel

Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants

Ist Teil von

• Circulation. Genomic and precision medicine, 2023-10, Vol.16 (5), p.434

Ort / Verlag

United States

Erscheinungsjahr

2023

Quelle

MEDLINE

Beschreibungen/Notizen

• Variants in are reported in 2% to 6% of familial cases of dilated cardiomyopathy and may be associated with fatal ventricular arrhythmia and rapid heart failure progression. We sought to determine the risk of adverse events in variant carriers and the impact of sex on outcomes. Consecutive probands and relatives carrying variants were retrospectively recruited from 12 cardiomyopathy units. The primary end point was a composite of malignant ventricular arrhythmia (MVA) and end-stage heart failure (ESHF). MVA and ESHF end points were also analyzed separately and men and women compared. Left ventricular ejection fraction (LVEF) contemporary to MVA was examined. variant carriers with left ventricular systolic dysfunction ( ) were compared with variant-elusive patients with idiopathic left ventricular systolic dysfunction. Longitudinal follow-up data were available for 143 variant carriers (71 men; median age, 35.5 years); 7 of 143 had an MVA event at baseline. Thirty of 136 without baseline MVA (22.0%) reached the primary end point, and 16 of 136 (11.8%) had new MVA with no significant difference between men and women (log-rank =0.07 and =0.98, respectively). Twenty of 143 (14.0%) developed ESHF (17 men and 3 women; log-rank <0.001). Four of 10 variant carriers with available LVEF contemporary to MVA had an LVEF >35%. At 5 years, 15 of 67 (22.4%) versus 7 of 197 (3.6%) patients with idiopathic left ventricular systolic dysfunction had reached the primary end point (log-rank <0.001). variant carriage conferred a 6.0-fold increase in risk of the primary end point. variants are associated with a high risk of MVA and ESHF compared with idiopathic left ventricular systolic dysfunction. The risk of MVA in male and female variant carriers is similar, but male sex is strongly associated with ESHF.