TY - JOUR
T1 - Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant
AU - Duvekot, Jantiene C.
AU - Baas, Annette F.
AU - Volker-Touw, Catharina M. L.
AU - Bikker, Hennie
AU - Schroer, Christian
AU - Breur, Johannes M. P. J.
N1 - Publisher Copyright: © 2021 The Authors
PY - 2021/11
Y1 - 2021/11
N2 - Two siblings presented with early lethal noncompaction cardiomyopathy (NCCM). Both carry compound heterozygous variants in the ryanodine receptor gene (RYR2). Evolving animal and human data have begun to implicate a role for RYR2 dysfunction in the development of NCCM. The identified RYR2 variants are therefore likely causative for this early lethal NCCM phenotype. Further research is needed to understand the role of RYR2 in the heart compaction process.
AB - Two siblings presented with early lethal noncompaction cardiomyopathy (NCCM). Both carry compound heterozygous variants in the ryanodine receptor gene (RYR2). Evolving animal and human data have begun to implicate a role for RYR2 dysfunction in the development of NCCM. The identified RYR2 variants are therefore likely causative for this early lethal NCCM phenotype. Further research is needed to understand the role of RYR2 in the heart compaction process.
UR - http://www.scopus.com/inward/record.url?scp=85117390046&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/j.cjca.2021.04.023
DO - https://doi.org/10.1016/j.cjca.2021.04.023
M3 - Article
C2 - 33984427
SN - 0828-282X
VL - 37
SP - 1864
EP - 1866
JO - Canadian Journal of Cardiology
JF - Canadian Journal of Cardiology
IS - 11
ER -