What are the diagnostic criteria for rheumatic heart disease?

Diagnostic Criteria for Rheumatic Heart Disease

The diagnosis of rheumatic heart disease (RHD) requires echocardiographic demonstration of pathological mitral and/or aortic regurgitation combined with specific morphological valve abnormalities, using the 2023 World Heart Federation criteria which have superseded the 2012 guidelines. 1

Echocardiographic Diagnostic Framework

For Patients WITHOUT Prior Acute Rheumatic Fever

The 2023 World Heart Federation guidelines establish a staged diagnostic approach: 1

Stage A (Minimal RHD) – Applies ONLY to individuals ≤20 years:

• Mild mitral regurgitation (MR) OR mild aortic regurgitation (AR) present
• No morphological features required 1
• Must exclude other causes of valvular disease 1

Stage B (Mild RHD):

• For individuals ≤20 years: Pathological MR or AR PLUS at least 1 morphological feature 1
• For individuals >20 years: Pathological MR or AR PLUS at least 2 morphological features 1
• OR mild regurgitation in both mitral and aortic valves 1

Stage C/D (Advanced RHD):

• Moderate or severe MR 1
• Moderate or severe AR 1
• Any mitral stenosis (MS) or aortic stenosis (AS) 1
• Pulmonary hypertension 1
• Decreased left ventricular systolic function 1

For Patients WITH Prior Acute Rheumatic Fever

Any structural or functional mitral or aortic valve abnormality must be presumed rheumatic until proven otherwise. 2 This represents a critical clinical principle: even isolated pathological regurgitation without morphological features constitutes definite RHD in this population. 1, 2

Required Morphological Features

The following valve abnormalities define RHD morphology: 1

Mitral Valve:

• Anterior leaflet thickening (≥3 mm) 1, 3
• Chordal thickening 1, 3, 4
• Restricted leaflet motion 1, 3, 4
• Excessive anterior leaflet tip motion during systole 1, 3
• "Hockey-stick" deformity of the anterior leaflet (pathognomonic) 2, 3

Aortic Valve:

• Leaflet thickening 1
• Leaflet prolapse 1
• Restricted leaflet motion 1

Criteria for Pathological Regurgitation

Pathological Mitral Regurgitation (requires ALL): 1

• Observed in two views 1
• Jet velocity >3.0 m/s 1
• Minimum jet length: 1.5 cm for patients <30 kg; 2.0 cm for patients ≥30 kg 1
• Pan-systolic jet 1

Pathological Aortic Regurgitation (requires ALL): 1

• Observed in two views 1
• Jet velocity >3.0 m/s 1
• Pan-diastolic jet 1

Screening Approach in Endemic Regions

Initial Screening (Positive if ANY present): 1

• MR jet length ≥1.5 cm (<30 kg) or ≥2.0 cm (≥30 kg) in at least one view for two consecutive frames 1
• Any AR jet in at least one view for two consecutive frames 1
• Restricted mitral valve leaflet motion with reduced opening 1

Confirmatory Echocardiography: 1

• Must document pathological regurgitation by full criteria 1
• Must assess all morphological features 1
• Must exclude congenital anomalies (cleft valve, double-orifice, parachute variants) 3

Critical Clinical Context

Epidemiologic Considerations:

• The mitral valve is involved in 99.3% of echocardiographic cases and 100% of post-mortem examinations 2, 5
• MR is present in 87-94% of RHD cases 2, 5
• Pretest probability varies by geographic location, ethnicity, and living conditions 1

Common Pitfalls:

• Stage A criteria apply only to individuals ≤20 years; do not use this category in adults 1
• Morphological features may evolve over time after initial rheumatic fever; absence of multiple features does not exclude RHD when clinical history is supportive 2
• Approximately 5-7.5% of individuals with documented ARF and severe disease present with isolated MR without full morphological criteria 2
• Borderline findings (Stage A/B) carry an 8.8-fold increased risk of subsequent ARF and significant progression risk 6

Differential Diagnosis Requirements

Before confirming RHD, exclude: 1, 3

• Congenital heart disease 1, 3
• Degenerative valve disease 1
• Bicuspid aortic valve 1
• Calcific aortic stenosis 1
• Other acquired valve pathology 1