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Article

Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant.

The Canadian journal of cardiology - 1 Nov 2021

Duvekot Jantiene C, Baas Annette F, Volker-Touw Catharina M L, Bikker Hennie, Schroer Christian, Breur Johannes M P J

Abstract excerpt

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...

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Identifiers

PMID: 33984427
DOI: 10.1016/j.cjca.2021.04.023

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