Hypertrophic cardiomyopathy and human leukocyte antigen linkage: differentiation of two forms of hypertrophic cardiomyopathy

• Published in: The New England journal of medicine Vol. 300; no. 16; p. 877
• Main Authors: Darsee, J R, Heymsfield, S B, Nutter, D O
• Format: Journal Article
• Language: English
• Published: United States 19.04.1979
• Subjects: Adult; African Continental Ancestry Group; Aged; Alleles; Cardiomyopathy, Hypertrophic - classification; Cardiomyopathy, Hypertrophic - complications; Cardiomyopathy, Hypertrophic - genetics; Chromosome Mapping; Chromosomes, Human, 6-12 and X; Echocardiography; Female; Genetic Linkage; Histocompatibility Testing; HLA Antigens - genetics; Humans; Hypertension - complications; Hypertension - genetics; Leukocytes - immunology; Male; Middle Aged; Pedigree; Phenotype; Recombination, Genetic
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM197904193001602

To determine whether hypertrophic cardiomyopathy is associated with a human leukocyte antigen (HLA) phenotype, we tissue-typed 70 unrelated afflicted patients and 86 of their asymptomatic family members (from nine separate kindreds). Forty-five per cent of the white patients had B-12 antigen as compared to 23 per cent in matched control subjects; 69 per cent of black patients had a B-5-complex antigen as compared to 33 per cent in matched controls. Patients with a B-12 or B-5-complex antigen were nonhypertensive and had family members with the disease. Patients without these antigens were severely hypertensive and had no affected family members. Linkage analysis of six families revealed a lod score of 7.7 for asymmetric septal hypertrophy and the HLA region of chromosome 6. We conclude that there is a heritable, nonhypertensive form of hypertrophic cardiomyopathy linked to the HLA loci on chromosome 6 and that a sporadic form is associated with severe, systemic hypertension.