Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant
Publication date
2021-11
Authors
Duvekot, Jantiene C.
Baas, Annette F.
Volker-Touw, Catharina M L
Bikker, Hennie
Schroer, Christian
Breur, J M P J
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Document Type
Article
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Abstract
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.
Keywords
Cardiology and Cardiovascular Medicine
Citation
Duvekot, J C, Baas, A F, Volker-Touw, C M L, Bikker, H, Schroer, C & Breur, J M P J 2021, 'Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant', Canadian Journal of Cardiology, vol. 37, no. 11, pp. 1864-1866. https://doi.org/10.1016/j.cjca.2021.04.023