What are the criteria for diagnosing Rheumatic Heart Disease (RHD)?

Criteria for Rheumatic Heart Disease (RHD)

The 2023 World Heart Federation guidelines establish a two-step diagnostic approach using screening criteria followed by confirmatory echocardiographic criteria, with disease classified into stages A through D based on progression risk rather than the older "borderline" and "definite" terminology. 1

Diagnostic Approach Framework

The WHF 2023 guidelines introduce two distinct sets of echocardiographic criteria that work together in a staged diagnostic strategy 1:

Screening Criteria (First Step)

For individuals ≤20 years old in high-prevalence settings, a positive screen requires any of the following 1:

• Mitral regurgitation (MR) jet length:

  • ≥1.5 cm for patients weighing <30 kg
  • ≥2.0 cm for patients weighing ≥30 kg
  • Must be present in at least one view for at least two consecutive frames 1

• Any aortic regurgitation (AR) jet observed in at least one view for at least two consecutive frames 1

• Restricted mitral valve leaflet motion with reduced opening 1

Confirmatory Criteria (Second Step)

Following a positive screen, confirmatory echocardiography by an expert is required and must demonstrate 1:

For Pathological Mitral Regurgitation (all required):

• Observed in two views 1
• Velocity >3.0 m/s 1
• Pan-systolic jet 1
• Plus morphological features (see below) 1

For Pathological Aortic Regurgitation (all required):

• Observed in two views 1
• Velocity >3.0 m/s 1
• Pan-diastolic jet 1
• Plus morphological features (see below) 1

RHD Morphological Features:

• Mitral valve: Anterior leaflet thickening and/or chordal thickening 1
• Mitral valve: Leaflet restriction and/or excessive anterior leaflet tip motion 1
• Aortic valve: Thickening, prolapse, or restricted leaflet motion 1

Disease Staging Classification

The WHF 2023 guidelines replace the outdated "borderline" and "definite" RHD terminology with a stage-based system 1:

Stage A: Minimal Echocardiographic Criteria

• Applies only to individuals ≤20 years old 1
• Minimum echocardiographic criteria for RHD achieved 1
• Low risk of progression based on risk score 1
• Pathological MR or AR present without abnormal morphology 1
• Management: Enrollment in RHD registry; secondary antibiotic prophylaxis (SAP) initiation is reasonable (Class 2A recommendation) 1

Stage B: Mild RHD

• Moderate or high risk of progression based on risk score 1
• Patient at risk of developing clinical symptoms of valvular heart disease 1
• Management: Enrollment in RHD registry; SAP is recommended (Class 1 recommendation) 1

Stage C: Advanced RHD

• Established RHD with moderate or severe MR, moderate or severe AR, any mitral stenosis (MS) or aortic stenosis (AS) 1

Stage D: Advanced RHD with Established Complications

• Includes pulmonary hypertension or decreased left ventricular systolic function 1

Key Technical Requirements

Echocardiographic assessment must include 1:

• 2D echocardiography for morphological assessment 1
• Continuous-wave Doppler for velocity measurements 1
• Color-Doppler for regurgitation detection 1

Important Clinical Caveats

Age-Specific Modifications

Criteria are modified for individuals >20 years old because some valvular features take time to develop 1. Stage A classification does not apply to adults >20 years 1.

Confirmatory Echocardiography Timing

Although confirmatory echocardiography is recommended before SAP initiation, in settings where immediate confirmatory studies are unavailable, SAP can be initiated while awaiting confirmation 1. The final decision should involve a clinician with RHD expertise 1.

Distinction from Previous Guidelines

The 2012 WHF criteria used "borderline RHD" and "definite RHD" categories, which are no longer recommended 1. These terms have been incorporated into the stage-based system because "borderline" represented a heterogeneous spectrum from normal valves to early-stage RHD 1.

Subclinical Disease Recognition

RHD detected on echocardiography without a clinically pathological cardiac murmur is termed "subclinical RHD" 1, 2. Echocardiography is vastly superior to auscultation for detecting RHD 1, 2, 3.

Progression Risk

Children with Stage A RHD have demonstrated increased risk of acute rheumatic fever (incidence rate ratio 8.8) and progression to more advanced disease (approximately 1 in 6 progress to definite RHD) 4. This evidence supports the consideration of SAP or ongoing surveillance in high-risk populations 4.