Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction

Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction

Left ventricular non-compaction (LVNC) is a very rare primary cardiomyopathy with a genetic etiology, resulting from the failure of myocardial development during embryogenesis, and it carries a high risk of left ventricular dysfunction, thromboembolic phenomenon, and malignant arrhythmias. Here, we...

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Bibliographic Details
Main Authors: Joonhong Park, Yong Gon Cho, Ha Wook Park, Jung Sun Cho
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Pediatrics
Subjects:
left ventricular non-compaction
heterogeneous phenotype
ACTN2 variant
exome sequencing
cardiac magnetic resonance imaging
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.609389/full

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https://www.frontiersin.org/articles/10.3389/fped.2021.609389/full

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