Heart failure & cardiomyopathies
Evidence From Family Studies for Autoimmunity in Arrhythmogenic Right Ventricular Cardiomyopathy: Associations of Circulating Anti-Heart and Anti-Intercalated Disk Autoantibodies With Disease Severity and Family History
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)
Methodological detailsDesmosomal gene screening (5 genes) in probands; cascade family screening blind to immunologic results
- Desmosomal gene screening (5 genes) in probands; cascade family screening blind to immunologic results
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
Probands36.8%
ARs37.8%
Healthy relatives25%
Noninflammatory cardiac disease1%
Ischemic heart failure1%
Healthy blood donors2.5%
AIDA
Probands8%
ARs21.6%
Healthy relatives14.6%
Noninflammatory cardiac disease3.75%
Ischemic heart failure2%
Healthy blood donors0.3%
- 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: Associations of Circulating Anti-Heart and Anti-Intercalated Disk Autoantibodies With Disease Severity and Family History. Circulation. Published 2 March 2020. doi:10.
Summarised from the published abstract; every number is checked against it