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A genetic marker for rheumatic heart disease

C N Rajapakse1, K Halim, I Al-Orainey

  • 1Department Medicine, King Saud University, Riyadh, Saudi Arabia.

British Heart Journal
|December 1, 1987
PubMed

Insights

The human leukocyte antigen DR4 (HLA-DR4) is significantly more common in patients with rheumatic heart disease and acute rheumatic fever. This finding suggests a potential link between HLA-DR4 and the development of these conditions.

Area of Science:

  • Immunogenetics
  • Rheumatology
  • Cardiovascular Disease

Background:

  • Rheumatic heart disease (RHD) and acute rheumatic fever (ARF) are significant global health concerns.
  • The genetic factors influencing susceptibility to RHD and ARF are not fully understood.
  • Previous studies have suggested a potential role for human leukocyte antigen (HLA) genes.

Purpose of the Study:

  • To investigate the frequency of specific HLA antigen types (A, B, C, and DR) in Saudi patients with RHD and ARF.
  • To compare HLA antigen frequencies between patients and healthy controls.
  • To explore the association between HLA-DR4 and the severity of valvular heart disease in RHD patients.

Main Methods:

  • A case-control study comparing HLA antigen frequencies.
  • Unselected groups of 25 patients with chronic RHD, 15 patients with ARF, and 100 healthy Arab volunteers of Saudi origin.
  • HLA typing for antigens A, B, C, and DR.
  • Analysis of HLA-DR4 frequency in relation to valvular lesions (mitral stenosis, aortic incompetence).

Main Results:

  • A significantly higher frequency of HLA-DR4 was observed in both RHD (72%) and ARF (53%) patient groups compared to healthy controls (12%).
  • The combined patient groups showed a 65% frequency of HLA-DR4, with a high relative risk (13.6).
  • HLA-DR4 was prevalent in RHD patients with mitral stenosis (83%) and aortic incompetence (70%).
  • Similar HLA-DR4 frequencies were found in non-Saudi Arab patients with RHD or ARF.

Conclusions:

  • The study identifies a strong association between HLA-DR4 and susceptibility to ARF and RHD in the studied population.
  • HLA-DR4 may play a role in the pathogenesis of rheumatic fever and subsequent heart disease.
  • These findings warrant further investigation into the immunogenetic mechanisms underlying rheumatic fever and RHD.

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