Heart failure & cardiomyopathiesCase-control study
Evidence From Family Studies for Autoimmunity in Arrhythmogenic Right Ventricular Cardiomyopathy
- Case-control family study
Desmosomal gene screening (5 genes) in probands; cascade family screening blind to immunologic results
Authors' conclusion
The presence of AHAs and AIDAs provides evidence of autoimmunity in the majority of familial and in almost half of sporadic ARVC. In probands and in ARs, these antibodies were associated with features of disease severity.
Study context
- Population
- Arrhythmogenic right ventricular cardiomyopathy (ARVC) families (probands, affected and healthy relatives) and control groups171 of 175 ARVC individuals tested
- Participants
- 42 / 37 / 96 / 160 / 141 / 270
- Comparison
- ARVC probands and relatives vs control groups
- Probandsn = 42
- Affected relatives (ARs)n = 37
- Healthy relativesn = 96
- Noninflammatory cardiac diseasen = 160reference
- Ischemic heart failuren = 141reference
- Healthy blood donorsn = 270reference
- Outcome
- Frequency of serum anti-heart autoantibodies (AHAs) and anti-intercalated disk autoantibodies (AIDAs) (indirect immunofluorescence)
Main finding
As reported in the abstract
AHA and AIDA frequency
| Group | AHA | AIDA |
|---|---|---|
| Probands | 36.8% | 8% |
| ARs | 37.8% | 21.6% |
| Healthy relatives | 25% | 14.6% |
| Noninflammatory cardiac disease | 1% | 3.75% |
| Ischemic heart failure | 1% | 2% |
| Healthy blood donors | 2.5% | 0.3% |
- AHA frequency higher in probands, ARs and healthy relatives than in controls
- P = 0.0001
- AIDA frequency higher in probands than in controls
- P = 0.006
- AIDA frequency higher in ARs than in controls
- P = 0.00001
- AIDA frequency higher in healthy relatives than in controls
- P = 0.00001
Observational data: associations, not effects.
Further findings
AHA and/or AIDA positive in proband and ≥1 relative, by pedigree
P = 0.007
Clinical associations of antibody status
- AHA-positive: more palpitation
- P = 0.004
- AHA-positive: more ICD implantation
- P = 0.021
- AHA-positive: lower LVEF
- P = 0.004
- AIDA-positive: lower RV EF
- P = 0.027
- AIDA-positive: lower LVEF
- P = 0.027
Original publication
Evidence From Family Studies for Autoimmunity in Arrhythmogenic Right Ventricular Cardiomyopathy. Circulation. Published 2 March 2020. doi:10.1161/circulationaha.119.043931
Summarised from the published abstract; every number is checked against it