Arrhythmias & electrophysiologyCohort study
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
- Registry-based observational cohort study
- international
- collaborative
Authors' conclusion
Calmodulinopathy has pleiotropic presentations, from channelopathy to syndromic forms. Clinical severity ranges from the early onset of life-threatening arrhythmias to the absence of symptoms, and the percentage of milder and familial forms is increasing.
Study context
- Population
- CALM-positive patients (mutations in CALM1–3): index cases and family members97 index cases · 43 family members
- Participants
- 140 patients
- Exposure
- Current International Calmodulinopathy Registry (ICalmR) cohort vs original 2019 cohort
- ICalmRn = 140
Main finding
As reported in the abstract
Arrhythmic/cardiac events and sudden death
| Group | All cardiac events | Sudden death |
|---|---|---|
| Original 2019 | 85% | 27% |
- ICalmR vs Original 2019: P = 0.001 — all cardiac events: 61% vs. 85%
- ICalmR vs Original 2019: P = 0.008 — sudden death: 9% vs. 27%
Observational data: associations, not effects.
Further findings
| Outcome | ICalmR | Original 2019 | P value |
|---|---|---|---|
| All cardiac events, vs original 2019 cohort | 61% | Not reported in the abstract | P = 0.001 |
| Sudden death, vs original 2019 cohort | 9% | Not reported in the abstract | P = 0.008 |
- All cardiac events, vs original 2019 cohort: 2019 85%
- Sudden death, vs original 2019 cohort: 2019 27%
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry. Eur Heart J. Published 2 August 2023. doi:10.1093/eurheartj/ehad418
Summarised from the published abstract; every number is checked against it