How do you diagnose Heart Failure with preserved Ejection Fraction (HFpEF)?

Diagnosing Heart Failure with Preserved Ejection Fraction (HFpEF)

The diagnosis of HFpEF requires a stepwise approach that includes assessment of symptoms and signs of heart failure, preserved ejection fraction (≥50%), elevated natriuretic peptides, and objective evidence of cardiac dysfunction, with careful exclusion of HFpEF mimics and noncardiac causes. 1

Initial Diagnostic Assessment

• Begin by applying the Universal Definition of Heart Failure which requires symptoms/signs of HF caused by structural/functional cardiac abnormalities AND at least one of: 1) elevated natriuretic peptides or 2) objective evidence of cardiogenic pulmonary or systemic congestion 1

• Evaluate for symptoms and signs of heart failure:

  • Major criteria: orthopnea, jugular venous distension, hepatojugular reflux, rales, S3 gallop rhythm, acute pulmonary edema, cardiomegaly 1
  • Minor criteria: dyspnea on exertion, nocturnal cough, ankle edema, tachycardia, hepatomegaly, pleural effusion 1

• Assess for typical clinical demographics and risk factors:

  • Hypertension, obesity, diabetes mellitus, advanced age, atrial fibrillation 1

• Perform basic diagnostic tests:

  • ECG (may show LV hypertrophy, atrial fibrillation, repolarization abnormalities) 1
  • Echocardiography to confirm preserved EF (≥50%) 1
  • Natriuretic peptide levels:
    • Ambulatory: BNP >35 pg/mL or NT-proBNP >125 pg/mL 1
    • Hospitalized: BNP >100 pg/mL or NT-proBNP >300 pg/mL 1

Echocardiographic Assessment

• Evaluate for structural and functional cardiac abnormalities:
  • Left atrial enlargement (left atrial volume index) 1, 2
  • LV hypertrophy (LV mass index, relative wall thickness) 1, 2
  • Diastolic dysfunction (e', E/e' ratio) 1, 2
  • Elevated pulmonary artery pressure (tricuspid regurgitation velocity) 1, 2
  • Impaired LV global longitudinal strain 2

Exclusion of HFpEF Mimics

• Rule out noncardiac causes of symptoms:

  • Kidney failure, liver failure, chronic venous insufficiency 1

• Exclude cardiac mimics that may present with preserved EF:

  • Infiltrative/restrictive cardiomyopathies (cardiac amyloidosis, sarcoidosis) 1
  • Hypertrophic cardiomyopathy 1
  • Valvular heart disease 1
  • Pericardial disease 1
  • High-output heart failure 1

• Consider specific testing for HFpEF mimics based on clinical suspicion:

  • Cardiac amyloidosis: Monoclonal protein screen, technetium pyrophosphate scan 1
  • Hypertrophic cardiomyopathy: CMR if diagnosis uncertain on echocardiogram 1
  • Cardiac sarcoidosis: CMR, FDG-PET scan 1
  • Hemochromatosis: Ferritin, transferrin, CMR with T2* imaging 1
  • Pericardial disease: CMR, right and left heart catheterization 1

Advanced Diagnostic Testing

• If diagnosis remains uncertain after initial assessment (intermediate probability):
  • Consider cardiac MRI to evaluate for infiltrative disease, fibrosis, or pericardial abnormalities 1, 2
  • Perform functional testing with echocardiographic or invasive hemodynamic exercise stress tests to unmask elevated filling pressures 1, 2
  • Invasive hemodynamic assessment may be needed in selected cases to confirm elevated LV filling pressures 1

Diagnostic Algorithms

• Two validated diagnostic algorithms can be considered:
  • HFA-PEFF: Uses a stepwise approach with pre-test assessment, echocardiography and natriuretic peptide scoring, functional testing, and final etiology determination 3, 2
  • H2FPEF: Scores based on Heavy (BMI>30), Hypertensive (≥2 medications), atrial Fibrillation, Pulmonary hypertension, Elderly age (>60), and elevated Filling pressures 3, 4

Common Pitfalls and Caveats

• Normal natriuretic peptide levels do not exclude HFpEF, especially in obese patients who may have lower values despite elevated filling pressures 1

• Not all patients with dyspnea, preserved EF, and comorbidities have HFpEF; careful exclusion of alternative diagnoses is essential 1

• Avoid over-reliance on a single parameter; the diagnosis requires integration of clinical, laboratory, and imaging findings 1, 2

• HFpEF is often a diagnosis of exclusion after ruling out specific cardiac and non-cardiac causes of symptoms 1

• Not every patient requires exhaustive testing to exclude all HFpEF mimics; testing should be guided by clinical suspicion 1