Serum anti-heart and anti-intercalated disk autoantibodies were present in the majority of familial and almost half of sporadic ARVC cases, providing evidence of autoimmunity (P=0.007).
Observational (n=742)
Are anti-heart autoantibodies and anti-intercalated disk autoantibodies present in patients with arrhythmogenic right ventricular cardiomyopathy and their relatives?
The presence of anti-heart and anti-intercalated disk autoantibodies in ARVC patients and affected relatives suggests an autoimmune component to the disease that correlates with severity.
p-value: p==0.007
BACKGROUND: Serum anti-heart autoantibodies (AHAs) and anti-intercalated disk autoantibodies (AIDAs) are autoimmune markers in myocarditis. Myocarditis has been reported in arrhythmogenic right ventricular cardiomyopathy (ARVC). To provide evidence for autoimmunity, we searched for AHAs and AIDAs in ARVC. METHODS: We studied: 42 ARVC probands, 23 male, aged 42, interquartile range 33-49, 20 from familial and 22 nonfamilial pedigrees; 37 clinically affected relatives (ARs), 24 male aged 35, interquartile range 18-46; and 96 healthy relatives, 49 male, aged 27, interquartile range 17-45. Serum AHAs and AIDAs were tested by indirect immunofluorescence on human myocardium and skeletal muscle in 171 of the 175 ARVC individuals and in controls with noninflammatory cardiac disease (n=160), ischemic heart failure (n=141), and healthy blood donors (n=270). Screening of 5 desmosomal genes was performed in probands; when a sequence variant was identified, cascade family screening followed, blind to immunologic results. RESULTS: =0.007). CONCLUSIONS: 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. Longitudinal studies are needed to clarify whether they may predict ARVC development in healthy relatives or if they be a result of manifest ARVC.
Caforio et al. (Wed,) conducted a observational in Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) (n=742). Serum anti-heart autoantibodies (AHAs) and anti-intercalated disk autoantibodies (AIDAs) testing vs. Controls with noninflammatory cardiac disease, ischemic heart failure, and healthy blood donors was evaluated on Presence of AHAs and AIDAs (p==0.007). Serum anti-heart and anti-intercalated disk autoantibodies were present in the majority of familial and almost half of sporadic ARVC cases, providing evidence of autoimmunity (P=0.007).