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<p>Genetic variants in&#xa0;<i>CACNA1C</i>&#xa0;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&#xa0;<i>CACNA1C</i>. Among 4,774 patients, 49 had P, LP, or VUS variants (55% female; median age 15&#xa0;years; mean QTc 481&#xa0;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.&#xa0;Six patients had at least 1 breakthrough cardiac event on follow-up. Overall,&#xa0;CACNA1C-positive patients&#xa0;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.</p> Graphical Abstract <p></p>

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Evaluation of CACNA1C-Positive Patients Evaluated in a Tertiary Genetic Heart Rhythm Clinic

  • 期刊论文

  • 发表日期：

    2025年6月17日

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  • Liwei Yu,
  • Raquel Neves,
  • Martijn M. Bos,
  • David J. Tester,
  • Mayank Sardana,
  • John R. Giudicessi,
  • Michael J. Ackerman

摘要

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.

Graphical Abstract