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Updated: Oct 29 2020

Rheumatic Heart Disease

  • Snapshot
    • A 25-year-old woman presents to her primary care physician’s office for her annual physical. She recently immigrated from a developing country and reports having multiple episodes of pharyngitis in the past. On physical exam, there is a holosystolic murmur at the apex. A follow-up echocardiogram shows mitral regurgitation, concerning for rheumatic heart disease.
  • Introduction
    • Clinical definition
      • a consequence of rheumatic fever characterized by inflammation and scarring of the heart valves
    • Epidemiology
      • demographics
        • female > male
        • most common in developing nations
        • leading cause of pediatric heart disease
      • location
        • mitral valve > aortic valve > tricuspid valve
        • most commonly affects the high-pressure valves
      • risk factors
        • poverty and overcrowding
        • recurrent acute rheumatic fever
        • group A streptococcal pharyngitis
    • Etiology
      • at least 1 episode of acute rheumatic fever from group A streptococci
    • Pathogenesis
      • cumulative inflammation and scarring of the heart valves resulting from an abnormal immune response to group A streptococci
        • molecular mimicry between streptococcal M protein and cardiac proteins
          • cross-reaction of antibodies to streptococcal M protein with self-antigens
          • immune-mediated (type II) hypersensitivity
      • disease is characterized by
        • early stage
          • valve regurgitation, most commonly of the mitral valve
        • late stage
          • valve stenosis, most commonly of the mitral valve
            • mitral valve stenosis leads to increased end-diastolic left atrial pressure, which causes left atrial enlargement
            • left atrial enlargement can manifest as atrial fibrillation or dysphagia
    • Associated conditions
      • rheumatic fever
        • Sydenham chorea
        • carditis
        • arthritis
        • erythema marginatum
        • subcutaneous nodules
    • Prognosis
      • the early stage may last for years and may be asymptomatic
      • onset of symptoms usually occurs 10-20 years after acute rheumatic fever
  • Presentation
    • Symptoms
      • palpitations (most common)
      • fatigue
      • chest pain
    • Physical exam
      • may have dyspnea
      • cardiac exam
        • mitral regurgitation
          • holosystolic murmur
          • may have a systolic thrill
        • mitral stenosis
          • diastolic murmur following opening snap
          • specific to rheumatic heart disease
        • aortic regurgitation
          • early diastolic decrescendo murmur
        • aortic stenosis
          • crescendo-decrescendo systolic ejection murmur
  • Imaging
    • Echocardiography
      • indications
        • when the murmur auscultated on examination is suspicious for rheumatic heart disease
        • to confirm the diagnosis
      • findings
        • valvular abnormalities, including regurgitation or stenosis
  • Studies
    • Labs
      • ↑ anti-streptolysin O (ASO) titers
    • Histology
      • Aschoff bodies (granulomas with giant cells) on heart valves
    • Making the diagnosis
      • based on clinical presentation and confirmed with echocardiography
  • Differential
    • Infective endocarditis
      • distinguishing factors
        • no association with group A streptococcal infection
        • other findings including Roth spots, Osler nodes, Janway lesions, and splinter hemorrhages on the nail bed
        • vegetations seen on valves on imaging
  • Treatment
    • Management approach
      • prophylaxis
        • all patients with rheumatic heart disease should undergo prophylaxis with penicillin for years
        • to prevent recurrence or worsening of rheumatic heart disease
      • treatment
        • depends on type and severity of valve involvement
    • Medical
      • penicillins
        • indication
          • for all patients in need of prophylaxis
      • sulfadiazine
        • indications
          • for all patients in need of prophylaxis
          • if patients are allergic to penicillin
    • Operative
      • valve repair or replacement
        • indication
          • depending on type and severity of valve pathology
        • modalities
          • surgical repair
          • percutaneous intervention
  • Complications
    • Aortic regurgitation
    • Cardiac arrhythmias
    • Heart failure
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