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Genetic Basis of Left Ventricular Noncompaction.
Pakdee Rojanasopondist1, Leigh Nesheiwat1, Sebastian Piombo1
1Division of Pediatric Cardiology, Department of Pediatrics (P.R., L.N., S.P., C.K.L.P.), NYU Grossman School of Medicine, NY.
Circulation. Genomic and Precision Medicine
|May 13, 2022
Summary
Left ventricular noncompaction (LVNC) is a complex pediatric cardiomyopathy. This study grades gene associations and identifies unique developmental pathways, advancing our understanding of LVNC pathogenesis.
Area of Science:
- Genetics
- Cardiology
- Molecular Biology
Background:
- Left ventricular noncompaction (LVNC) is a significant pediatric cardiomyopathy.
- Its pathogenesis remains poorly understood despite advances in genetic testing.
- Identifying causative genes and pathways is crucial for understanding LVNC.
Purpose of the Study:
- To systematically grade the strength of gene-disease relationships for LVNC.
- To identify molecular pathways implicated in the pathogenesis of LVNC.
- To differentiate LVNC from other cardiomyopathies based on genetic pathways.
Main Methods:
- A systematic PubMed review was conducted to identify all reported LVNC-associated genes.
- Genes were graded using a validated semi-quantitative system from the Clinical Genome Resource (ClinGen).
- Genetic pathway analysis was performed to identify associated molecular processes.
Main Results:
- 189 genes were associated with LVNC, with 11 (6%) definitive and 21 (11%) moderate.
- Key gene functions included sarcomere (34%), transcriptional/translational regulation (19%), and mitochondrial (9%).
- Three pathways (BMP receptors, cardiogenesis, Notch signaling) were unique to LVNC.
Conclusions:
- LVNC is a genetically diverse cardiomyopathy.
- LVNC pathogenesis appears linked to abnormal developmental processes, distinguishing it from other cardiomyopathies.
- Further research into these unique pathways may reveal novel therapeutic targets.
Keywords:
cardiomyopathiesgenetic testinggenotypehuman geneticsisolated noncompaction of the ventricular myocardiummodels, animalphenotypeMore Related Videos
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