Evidence from family studies for autoimmunity in dilated cardiomyopathy

Lancet. 1994 Sep 17;344(8925):773-7. doi: 10.1016/s0140-6736(94)92339-6.

Abstract

Organ-specific antibodies are found in patients with autoimmune disease and their symptom-free relatives many years before clinical onset. Organ-specific cardiac antibodies can be found in patients with dilated cardiomyopathy (DCM) and their relatives, which supports the idea that DCM is an autoimmune disease. We did non-invasive cardiological assessment and antibody screening in 342 symptom-free relatives (170 male, 172 female, mean [SD] age 31 [16] years). 177 relatives were from 33 families with more than 1 affected individual (familial DCM) and 165 relatives from 31 families with only 1 affected member (non-familial DCM). The frequency of cardiac antibodies was higher among relatives of DCM patients than in controls (20% vs 3.5%, p = 0.0001). In 37 (58%) of the families studied, cardiac antibodies were found in the proband and/or in at least 1 family member and were more common in familial than in non-familial DCM (24% vs 15%, p = 0.036). Antibody-positive relatives were younger (26 [15] vs 33 [17] years, p = 0.01) and had a larger mean echocardiographic left ventricular end-systolic dimension (35 [6] vs 32 [6], p = 0.01 mm) and reduced percentage fractional shortening compared with antibody-negative relatives (31 [6] vs 34 [6], p = 0.008). Presence of cardiac-specific autoantibodies in symptom-free DCM relatives provides evidence of autoimmunity in a subset of our patients (58%), including familial and non-familial forms of DCM. These antibodies are associated with mild left ventricular systolic dysfunction on echocardiography and may be early markers for relatives at risk of DCM.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Autoantibodies / isolation & purification
  • Autoimmune Diseases / diagnostic imaging
  • Autoimmune Diseases / genetics*
  • Autoimmune Diseases / immunology*
  • Autoimmunity / genetics*
  • Cardiomyopathy, Dilated / diagnostic imaging
  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / immunology*
  • Female
  • Fluorescent Antibody Technique
  • Humans
  • Male
  • Pedigree
  • Ultrasonography

Substances

  • Autoantibodies