Arrhythmias & electrophysiology

Phenotypic expression of rare progressive cardiac conduction disease variants in the general population

EuropacePublished Cohort study

Main finding · Conduction diseaseResult — go to the resultHazard ratio 6.60 95% CI 3.14–13.8

Authors' conclusion

In a population-based cohort, PCCD P/LP variant carriers were at greater risk of conduction disease.

Study context

Population
UK Biobank participants
Participants
469,511 participants
Exposure
P/LP progressive cardiac conduction disease (PCCD) variant carriers vs non-carriers
  • P/LPn = 25
  • VUSn = 3,174
Outcome
Any conduction disease (lifetime risk, Cox models incl. rare variant status, sex, age)
Methodological detailspopulation-based, UK Biobank
  • Population-based
  • UK Biobank

Main finding

Conduction disease

Hazard ratio

6.60

95% CI 3.14–13.8

P < 0.001

By group

P/LPvs Non-carriers
HR 6.60 (95% CI 3.14–13.8); P < 0.001

As reported in the abstract

C-index
0.602 (0.599-0.605)

Observational data: associations, not effects.

Further findings

OutcomeHR (CI)
AV blockP/LPvs Non-carriers23.2 (8.7–61.8)
Pacemaker implantationP/LPvs Non-carriers13.4 (6.01–29.8)

Conduction disease model with P/LP status + PR-PRS and QRS-PRS

C-index (improved model performance)
0.618 [0.615-0.622]

Original publication

Phenotypic expression of rare progressive cardiac conduction disease variants in the general population. Europace. Published 13 May 2025. doi:10.1093/europace/euaf103

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