TY - JOUR
T1 - RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling
AU - van den Hoogenhof, Maarten M. G.
AU - Beqqali, Abdelaziz
AU - Amin, Ahmad S.
AU - van der Made, Ingeborg
AU - Aufiero, Simona
AU - Khan, Mohsin A. F.
AU - Schumacher, Cees A.
AU - Jansweijer, Joeri A.
AU - van Spaendonck-Zwarts, Karin Y.
AU - Remme, Carol Ann
AU - Backs, Johannes
AU - Verkerk, Arie O.
AU - Baartscheer, Antonius
AU - Pinto, Yigal M.
AU - Creemers, Esther E.
PY - 2018
Y1 - 2018
N2 - BACKGROUND: Mutations in RBM20 (RNA-binding motif protein 20) cause a clinically aggressive form of dilated cardiomyopathy, with an increased risk of malignant ventricular arrhythmias. RBM20 is a splicing factor that targets multiple pivotal cardiac genes, such as Titin (TTN) and CAMK2D (calcium/calmodulin-dependent kinase II delta). Aberrant TTN splicing is thought to be the main determinant of RBM20-induced dilated cardiomyopathy, but is not likely to explain the increased risk of arrhythmias. Here, we investigated the extent to which RBM20 mutation carriers have an increased risk of arrhythmias and explore the underlying molecular mechanism.
AB - BACKGROUND: Mutations in RBM20 (RNA-binding motif protein 20) cause a clinically aggressive form of dilated cardiomyopathy, with an increased risk of malignant ventricular arrhythmias. RBM20 is a splicing factor that targets multiple pivotal cardiac genes, such as Titin (TTN) and CAMK2D (calcium/calmodulin-dependent kinase II delta). Aberrant TTN splicing is thought to be the main determinant of RBM20-induced dilated cardiomyopathy, but is not likely to explain the increased risk of arrhythmias. Here, we investigated the extent to which RBM20 mutation carriers have an increased risk of arrhythmias and explore the underlying molecular mechanism.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85048633478&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/29650543
U2 - https://doi.org/10.1161/CIRCULATIONAHA.117.031947
DO - https://doi.org/10.1161/CIRCULATIONAHA.117.031947
M3 - Article
C2 - 29650543
SN - 0009-7322
VL - 138
SP - 1330
EP - 1342
JO - Circulation
JF - Circulation
IS - 13
ER -