HLA-DR3 antigen linkage in patients with hypertrophic obstructive cardiomyopathy.
In order to investigate if genetic factors could be involved in the pathogenesis of hypertrophic obstructive cardiomyopathy, we determined HLA-A, HLA-B, HLA-C, and HLA-DR specificities in 12 Italian patients affected with the disease and in healthy family members of one of them. HLA-DR3 was found in 50% of patients as compared to 17.1% of normal control subjects (p = 0.023, relative risk = 4.82). The two relatives also had HLA-DR3 antigen and, in addition, showed equivocal signs of hypertrophy at echocardiographic examination. Thus hypertrophic obstructive cardiomyopathy is associated with genes in the HLA-DR region, and immunogenetic factors could be involved in the pathogenesis of the disease. Furthermore, the minimal target organ abnormalities in "healthy" relatives could represent a subclinical stage of the disease.
D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000276:immunology; D005260:Female; D008040:Genetic Linkage; D006680:HLA Antigens / Q000032:analysis / Q000145:classification; D015803:HLA-DR3 Antigen; D000949:Histocompatibility Antigens Class II / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged
D006680:HLA Antigens; D015803:HLA-DR3 Antigen; D000949:Histocompatibility Antigens Class II