ArticleCirculation. Cardiovascular genetics2017
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.
Article in Circulation. Cardiovascular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 1 of them a synthesis that pooled it.
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Who cites it
62 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical and genetic insights into non-compaction: a meta-analysis and systematic review on 7598 individuals.Clinical research in cardiology : official journal of the German Cardiac Society · 2019Pooled it
- Prevalence and clinical features of hearing loss caused by EYA4 variants.Scientific reports · 2020Trial
- Cardiomyocyte-Specific bcl11b Knockout Causes Left Ventricular Noncompaction by Dysregulating pou3f2 and Titin.International journal of molecular sciences · 2026Article
- Unveiling New Insights: ReinterpretingClinical case reports · 2026Article
- Echoes of Inequity: A Critical Examination of the Past, Present, and Future of Cardiac Health Equity.Current cardiology reports · 2025Review
- Left Ventricular Noncompaction Cardiomyopathy in Children: A Focus on Genetic and Molecular Mechanisms.Reviews in cardiovascular medicine · 2025Review
- Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.The Journal of general physiology · 2025Review
- Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.The Journal of general physiology · 2025Review
- X-Chromosome-Linked miRNAs Regulate Sex Differences in Cardiac Physiology.Circulation research · 2025Article
- Metabolic remodeling and cardiac dysfunction in left ventricular noncompaction: Insights from the MYH7 Q315R model.PloS one · 2025Article
- Desmin-related myopathy manifested by various types of arrhythmias: a case report and literature review.The Journal of international medical research · 2024Review
- Electrocardiogram Features of Left Ventricular Excessive Trabeculation with Preserved Cardiac Function in Light of Cardiac Magnetic Resonance and Genetics.Journal of clinical medicine · 2024Article
- Searching for genetic determinants for left ventricular non-compaction.Quantitative imaging in medicine and surgery · 2024Article
- Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies.Scientific reports · 2024Review
- Article
- TTN novel splice variant in familial dilated cardiomyopathy and splice variants review: a case report.Frontiers in cardiovascular medicine · 2024Article
- Genetic, clinical and imaging implications of a noncompaction phenotype population with preserved ejection fraction.Frontiers in cardiovascular medicine · 2024Article
- Article
- A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium?BMC cardiovascular disorders · 2023Article
- Advances in symptomatic therapy for left ventricular non-compaction in children.Frontiers in pediatrics · 2023Review
2 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors.
Funding
Abstract
backgroundLeft ventricular noncompaction (LVNC) is a genetically and phenotypically heterogeneous disease and, although increasingly recognized in clinical practice, there is a lack of widely accepted diagnostic criteria. We sought to identify novel genetic causes of LVNC and describe genotype-phenotype correlations. METHODS AND
resultsA total of 190 patients from 174 families with left ventricular hypertrabeculation (LVHT) or LVNC were referred for cardiac magnetic resonance and whole-exome sequencing. A total of 425 control individuals were included to identify variants of interest (VOIs). We found an excess of 138 VOIs in 102 (59%) unrelated patients in 54 previously identified LVNC or other known cardiomyopathy genes. VOIs were found in 68 of 90 probands with LVNC and 34 of 84 probands with LVHT (76% and 40%, respectively;
conclusionsLVHT and LVNC likely represent a continuum of genotypic disease with differences in severity and variable phenotype explained, in part, by the number of VOIs and whether mutations are present in sarcomeric or nonsarcomeric genes. Presence of VOIs is common in patients with LVHT. Our findings expand the current clinical and genetic diagnostic approaches for patients with LVHT and LVNC.
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