Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant

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

doi:10.1016/j.cjca.2021.04.023

Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant

Can J Cardiol. 2021 Nov;37(11):1864-1866. doi: 10.1016/j.cjca.2021.04.023. Epub 2021 May 10.

Authors

Jantiene C Duvekot¹, Annette F Baas², Catharina M L Volker-Touw², Hennie Bikker³, Christian Schroer⁴, Johannes M P J Breur⁵

Affiliations

¹ Department of Pediatric Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands.
² Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
³ Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
⁴ Department of Pediatrics, Maxima Medical Center Veldhoven, Veldhoven, The Netherlands.
⁵ Department of Pediatric Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address: [email protected].

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

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.

Publication types

Case Reports

MeSH terms

Adult
DNA / genetics*
DNA Mutational Analysis
Echocardiography
Electrocardiography
Fatal Outcome
Female
Humans
Infant, Newborn
Isolated Noncompaction of the Ventricular Myocardium / diagnosis
Isolated Noncompaction of the Ventricular Myocardium / genetics*
Isolated Noncompaction of the Ventricular Myocardium / metabolism
Male
Mutation*
Pedigree
Phenotype
Ryanodine Receptor Calcium Release Channel / genetics*
Ryanodine Receptor Calcium Release Channel / metabolism
Siblings*

Substances

RyR2 protein, human
Ryanodine Receptor Calcium Release Channel
DNA