ArticleJournal of cardiovascular translational research2025
Evaluation of CACNA1C-Positive Patients Evaluated in a Tertiary Genetic Heart Rhythm Clinic.
Article in Journal of cardiovascular translational research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic variants in CACNA1C are associated with several cardiac and neurologic conditions. We conducted a retrospective review of patients evaluated and treated who presented with a pathogenic (P), likely pathogenic (LP), or variant of uncertain significance (VUS) in CACNA1C. Among 4,774 patients, 49 had P, LP, or VUS variants (55% female; median age 15 years; mean QTc 481 ms). Of these, 22 had long QT syndrome type 8, 8 had Timothy syndrome, 2 had cardiac only Timothy syndrome, and 9 had no cardiac phenotype. Ten patients exhibited extracardiac findings. Thirty-one patients were treated with a beta-blocker, 21 patients had an implantable cardioverter-defibrillator (ICD). Nine patients were on intentional non-therapy. Six patients had at least 1 breakthrough cardiac event on follow-up. Overall, CACNA1C-positive patients present with diverse diagnoses and severity. Treatments vary by phenotype, however management with preventative measures only presents a reasonable option for some phenotype-negative, genotype-positive patients.
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