ArticleJournal of translational medicine2023
Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.
Article in Journal of translational medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Geographical and Ethnic Heterogeneity in Genetic Dilated Cardiomyopathies.International journal of molecular sciences · 2026Pooled it
- Superior 5-Year Survival in Heart Transplant Recipients with Pre-Transplant Dilated Cardiomyopathy Versus Ischemic Cardiomyopathy.Diagnostics (Basel, Switzerland) · 2026Article
- Molecular Pathology of Cardiomyopathies: Bridging Morphology, Genomics, and Clinical Phenotypes.Current issues in molecular biology · 2026Review
- TTN variants in pediatric cardiomyopathy: a retrospective cohort study.Frontiers in genetics · 2026Article
- Discovery ofDiagnostics (Basel, Switzerland) · 2025Article
- Protein Disulfide Isomerase Involvement in Dilated Cardiomyopathy Caused by Filamin C Deficiency in Male Mice.Journal of cellular and molecular medicine · 2025Article
- BMP6, a potential biomarker of inflammatory fibrosis and promising protective factor for dilated cardiomyopathy.Chinese medicine · 2025Article
- Dilated Cardiomyopathy in a Young Patient With anCase reports in medicine · 2025Article
- Cas13b-mediated RNA targeted therapy alleviates genetic dilated cardiomyopathy in mice.Cell & bioscience · 2024Article
- Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy [Letter].Journal of multidisciplinary healthcare · 2024Article
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6 authors at 1 institution in 1 country.
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Abstract
backgroundDilated cardiomyopathy (DCM) is one of the most frequent causes of heart failure and heart transplantation (HTx). The genetic basis of DCM among patients undergoing HTx remains to be further studied. This study aimed to characterize the genetic basis of DCM HTx in the Chinese population.
methodsIn total, 208 unrelated DCM patients who underwent HTx at Fuwai Hospital between June 2004 and June 2017 were included in this study. Whole-exome sequencing (WES) was performed for all patients. Gene burden analysis, variant classification, and genotype-phenotype correlation analysis were subsequently performed.
resultsAfter completing the bioinformatics analysis, gene burden analysis suggested that titin (TTN), filamin C (FLNC) and lamin A/C (LMNA) were significantly enriched with rare protein-altering variants. The frequencies of TTN and FLNC truncating variants in our cohort were 18.8% and 8.7%, respectively. Among the 165 rare variants in high evidence DCM-related genes, 27 (16.4%) and 59 (35.8%) were interpreted as pathogenic (P) and likely pathogenic (LP), respectively. In addition, 41 (47.7%) and 16 (18.6%) of these 86 P/LP variants are located in TTN and FLNC, respectively. The FLNC group contained more patients with NYHA class IV than the P/LP-negative group (FLNC, 16/18 vs. P/LP-negative, 81/123, P = 0.049).
conclusionsBased on WES, we provided a primary genetic spectrum of DCM patients undergoing HTx in the Chinese population. TTN and FLNC harbour the most P/LP variants. FLNC truncation may lead to severe clinical symptoms in DCM patients.
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