ArticleJournal of the American Heart Association2017
A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.
Article in Journal of the American Heart Association, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 68 citations in OpenAlex.
- Rethinking Left Ventricular Noncompaction and Excessive Left Ventricular Trabeculation: Development, Genetics, and a Proposed Conceptual Framework.Journal of clinical medicine · 2026Review
- The structure of the native cardiac crossbridge in the rigor state.Science advances · 2026Article
- Comprehensive Pathologic and Genetic Investigation of Four Young Adults with a Short QT Interval and Sudden Unexpected Death.The Journal of molecular diagnostics : JMD · 2026Article
- Left ventricular non-compaction in heart failure: contemporary perspective on diagnostic challenges and treatment opportunities.Heart failure reviews · 2026Review
- From gene to heart: the impact of a novel SGCD variant in familial dilated cardiomyopathy.BMC medical genomics · 2026Article
- Article
- Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery-Dreifuss Muscular Dystrophy.The Indian journal of radiology & imaging · 2025Article
- A novelFrontiers in pediatrics · 2025Article
- Non-compaction of the ventricular myocardium associated with large patent ductus arteriosus: primary or secondary?BMC cardiovascular disorders · 2024Article
- Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.American journal of human genetics · 2024Article
- Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death.ESC heart failure · 2024Article
- Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications.medRxiv : the preprint server for health sciences · 2024Article
- MYH7 in cardiomyopathy and skeletal muscle myopathy.Molecular and cellular biochemistry · 2024Review
- Non-Compaction Ventricle and Associated Cardiovascular and Non-Cardiovascular Diseases; More Attention Is Needed!Life (Basel, Switzerland) · 2023Article
- 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
- Left Ventricular Noncompaction in Children: The Role of Genetics, Morphology, and Function for Outcome.Journal of cardiovascular development and disease · 2022Review
- A double heterozygous variant inJournal of cardiology cases · 2022Article
- A novelTranslational pediatrics · 2022Article
- Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation.Frontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLeft ventricular noncompaction (LVNC) has since been classified as a primary genetic cardiomyopathy, but the genetic basis is not fully evaluated. The aim of the present study was to identify the genetic spectrum using next-generation sequencing and to evaluate genotype-phenotype correlations in LVNC patients. METHODS AND
resultsUsing next-generation sequencing, we targeted and sequenced 73 genes related to cardiomyopathy in 102 unrelated LVNC patients. We identified 43 pathogenic variants in 16 genes in 39 patients (38%); 28 were novel variants. Sarcomere gene variants accounted for 63%, and variants in genes associated with channelopathies accounted for 12%.
conclusionsNext-generation sequencing revealed a wide spectrum of genetic variations and a high incidence of pathogenic variants in LVNC patients. These pathogenic variants were independent risk factors for adverse events. Patients harboring pathogenic variants showed poor prognosis and should be followed closely.
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