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An immunogenetic study in hypertrophic cardiomyopathy
P Gregor1, E Ivasková, H Sajdlová
12nd Department of Medicine, Charles University School of Medicine, Prague, Czechoslovakia.
Insights
Human Leukocyte Antigen (HLA) typing identified a significant association between HLA-B21 and severe hypertrophic cardiomyopathy, particularly obstructive forms. This finding may aid in early disease recognition and risk assessment.
Area of Science:
- Immunogenetics
- Cardiology
Background:
- Previous research on Human Leukocyte Antigen (HLA) associations with hypertrophic cardiomyopathy (HCM) has yielded inconsistent results.
- Existing studies often lack sufficient patient numbers and fail to differentiate between HCM subtypes.
Purpose of the Study:
- To investigate the association between specific HLA antigens and hypertrophic cardiomyopathy.
- To explore potential links between HLA types and distinct clinical presentations of HCM.
Main Methods:
- Detailed HLA typing of 60 Class I and II antigens was performed on 117 patients diagnosed with hypertrophic cardiomyopathy.
- Statistical analyses, including relative risk and chi-square tests, were employed to identify significant associations.
Main Results:
- A significantly higher frequency of the HLA-B21 antigen was observed in patients with obstructive HCM and those with advanced myocardial hypertrophy (wall thickness >30 mm).
- Previous studies have linked HLA-B21 to other cardiovascular conditions, including ischemic heart disease and myocardial infarction in young individuals.
Conclusions:
- HLA-B21 may serve as a potential genetic marker for specific, severe forms of hypertrophic cardiomyopathy.
- HLA typing could assist in identifying atypical or severe presentations of HCM and assessing cardiovascular disease risk, particularly in populations like Czechoslovakia where HLA-B21 carriers face increased risk.
Abstract:
Research of the relevant international literature on HLA studies in patients with hypertrophic cardiomyopathy yielded controversial results. There are no studies, conducted in sufficiently large groups of patients, that would consider the different functional and morphological forms of the disease. Therefore, the authors carried out detailed typing of 60 Class I and II antigens in 117 patients known to suffer from hypertrophic cardiomyopathy. Values of the relative risk and chi-square test showed a number of possible associations. However, after correction for the number of antigens tested, only HLA-B21 was shown to have a significantly high frequency (in patients with the obstructive form and in those with advanced myocardial hypertrophy, defined as a wall thickness greater than 30 mm). An association with this antigen has previously been demonstrated in a number of cases of ischaemic heart disease, myocardial infarction of young people, and in hypertensive subjects. HLA typing may be helpful in recognizing forms which are not fully typical. In Czechoslovakia, HLA-B21 carriers are at increased risk of developing a serious heart disease manifesting already in young age.