How is diastolic heart failure (Heart Failure with Preserved Ejection Fraction, HFpEF) diagnosed and managed in patients with symptoms such as shortness of breath, fatigue, and swelling, and potential underlying conditions like hypertension, diabetes, or coronary artery disease?

How to Diagnose Diastolic Heart Failure (HFpEF)

Diagnose HFpEF when a patient has heart failure symptoms (dyspnea, fatigue, edema) with LVEF ≥50% on echocardiography, plus either elevated natriuretic peptides (BNP >35 pg/mL ambulatory or >100 pg/mL hospitalized; NT-proBNP >125 pg/mL ambulatory or >300 pg/mL hospitalized) OR objective evidence of elevated filling pressures on echocardiography. 1

Three Essential Diagnostic Components

The 2023 ACC guidelines establish that all three conditions must be satisfied for HFpEF diagnosis: 1

1. Presence of heart failure symptoms and/or signs 1
2. LVEF ≥50% (normal or mildly reduced systolic function) 1
3. Evidence of diastolic dysfunction or elevated filling pressures 1

Clinical Presentation: What to Look For

Major Criteria (any of these strongly suggest HF):

• Orthopnea (inability to lie flat due to breathlessness) 1
• Jugular venous distension (elevated neck veins) 1
• Hepatojugular reflux (increased JVP with liver pressure) 1
• Pulmonary rales/crackles on lung exam 1
• S3 gallop rhythm on cardiac auscultation 1
• Cardiomegaly on imaging 1

Minor Criteria (supportive findings):

• Dyspnea on exertion 1
• Nocturnal cough 1
• Bilateral ankle edema 1
• Tachycardia >120 bpm 1
• Hepatomegaly 1
• Pleural effusion 1

Apply Framingham criteria: 2 major OR 1 major + 2 minor criteria confirm clinical HF. 1

Step-by-Step Diagnostic Algorithm

Step 1: Measure Natriuretic Peptides First

Order BNP or NT-proBNP immediately when HFpEF is suspected. 1

• Ambulatory patients: BNP >35 pg/mL or NT-proBNP >125 pg/mL 1
• Hospitalized patients: BNP >100 pg/mL or NT-proBNP >300 pg/mL 1

Critical caveat: HFpEF patients have lower natriuretic peptide levels compared to HFrEF for the same degree of elevated filling pressure, especially with higher BMI (obesity blunts BNP release). 1, 2

Step 2: Obtain Transthoracic Echocardiography

Echocardiography is mandatory—no HF diagnosis should be made without it. 1

Measure LVEF:

• LVEF ≥50% confirms preserved systolic function 1
• LVEF 40-49% = HFmrEF (different entity) 1
• LVEF <40% = HFrEF (systolic heart failure) 1

Assess Diastolic Function Using Doppler Parameters:

E/e' ratio (most reliable single parameter): 1, 2

• E/e' >14-15: High filling pressures (confirms diastolic dysfunction) 1, 2
• E/e' <8: Low filling pressures (argues against HFpEF) 1
• E/e' 8-15: Indeterminate (need additional parameters) 1

Mitral inflow E/A ratio patterns: 1

• Restrictive pattern (E/A >2, short deceleration time <150 ms): High filling pressures 1
• Impaired relaxation (E/A <1): Early diastolic dysfunction, often normal filling pressures 1
• Pseudonormal (E/A 1-2): Indeterminate—use Valsalva maneuver to unmask abnormal pattern 1

Additional supportive findings: 1, 2

• Left atrial volume index (enlarged LA suggests chronic elevated pressures) 2
• Tricuspid regurgitation peak velocity (estimates pulmonary pressures) 2
• Left atrial reservoir strain (powerful prognostic marker) 2

The combination of NT-proBNP measurement and echocardiography with tissue Doppler is superior to either test alone. 2

Step 3: Exclude HF Mimics and Alternative Diagnoses

Before confirming HFpEF, rule out these conditions that present similarly: 1

Cardiac mimics requiring echocardiographic exclusion:

• Hypertrophic cardiomyopathy 3
• Infiltrative diseases (amyloidosis, sarcoidosis) 3
• Constrictive pericarditis 3
• Severe valvular disease (especially aortic stenosis, mitral regurgitation) 1

Non-cardiac causes of dyspnea:

• Pulmonary disease (COPD, interstitial lung disease, pulmonary hypertension) 1
• Obesity hypoventilation syndrome 1
• Anemia 1
• Deconditioning 1

Step 4: Consider Advanced Testing for Diagnostic Uncertainty

When resting echocardiography is indeterminate (E/e' 8-15, normal BNP despite symptoms): 1, 4

• Stress echocardiography (exercise or dobutamine): Reveals elevated filling pressures with exertion in patients with exertional dyspnea but normal resting parameters 1
• Invasive hemodynamic testing: Gold standard showing elevated LV end-diastolic pressure >16 mmHg at rest or >25 mmHg with exercise 4, 5
• H2FPEF score: Clinical prediction tool (age, hypertension, obesity, atrial fibrillation, echo parameters); score >5 indicates >95% probability of HFpEF 5

Common Diagnostic Pitfalls to Avoid

Pitfall 1: Assuming normal BNP excludes HFpEF—obesity significantly suppresses natriuretic peptide levels despite true HF. 1

Pitfall 2: Relying solely on E/A ratio—pseudonormal patterns mimic normal filling and require additional Doppler parameters or Valsalva maneuver. 1

Pitfall 3: Missing HFpEF in patients with "unexplained dyspnea"—approximately 35% of HFpEF patients have normal resting hemodynamics but elevated pressures only with exertion, requiring stress testing. 5

Pitfall 4: Confusing diastolic dysfunction (echocardiographic finding) with HFpEF (clinical syndrome)—diastolic dysfunction alone without symptoms is NOT HFpEF. 2, 3

Pitfall 5: Inadequate transthoracic windows—consider transesophageal echocardiography in obese patients or those on mechanical ventilation. 1

When to Refer to Specialists

Refer to general cardiologist when: 1

• Diagnostic uncertainty persists after initial workup 1
• Need to exclude alternative cardiac diagnoses 1
• Initiating guideline-directed medical therapy 1

Refer to HF specialist when: 1

• NYHA Class IV symptoms (severe, refractory symptoms) 6
• Diagnostic dilemma requiring advanced testing 1
• Unusual or infiltrative cardiomyopathies suspected 1
• Consideration for clinical trial enrollment 1
• Multiple complicating comorbidities (renal dysfunction, severe hyponatremia) 6

Risk Factors That Should Raise Suspicion

High-risk patient profile for HFpEF: 1, 3, 5, 7

• Age >65 years (incidence increases with age) 1, 5
• Female sex (more common in women) 1, 3
• Hypertension (present in majority of cases) 3, 5, 7
• Obesity (BMI >30) 5, 7
• Diabetes mellitus 3, 5, 7
• Atrial fibrillation 5, 7
• Coronary artery disease 3, 7

Women present unique diagnostic challenges—they have higher baseline EFs and more preserved LV strain, making HFpEF diagnosis more nuanced. 1