ArticleInternational journal of molecular sciences2024
The Yield of Genetic Testing and Putative Genetic Factors of Disease Heterogeneity in Long QT Syndrome Patients.
Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Special Issue "Molecular Advances in Heart Disease: Genomics, Proteomics, and Bioinformatics of Heart Research".International journal of molecular sciences · 2025Article
- A New High Penetrant Intronic Pathogenic Variant Related to Long QT Syndrome Type 2.Journal of clinical medicine · 2025Article
- A Novel Bradycardia-Associated Variant inBiomedicines · 2025Article
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Authors and funding
19 authors.
Funding
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Abstract
Genetic overdiagnosis of long QT syndrome (LQTS) becomes a critical concern due to the high clinical significance of DNA diagnosis. Current guidelines for LQTS genetic testing recommend a limited scope and strict referral based on the Schwartz score. Nevertheless, LQTS may be underdiagnosed in patients with borderline phenotypes. We aimed to evaluate the total yield of rare variants in cardiac genes in LQTS patients. The cohort of 82 patients with LQTS referral diagnosis underwent phenotyping, Schwartz score counting, and exome sequencing. We assessed known LQTS genes for diagnostics, as per guidelines, and a broader set of genes for research. Diagnostic testing yield reached 75% in index patients; all causal variants were found in
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