Can a patient have a normal echocardiogram and still have diastolic dysfunction?

Can a Patient Have a Normal Echocardiogram and Still Have Diastolic Dysfunction?

Yes, a patient can have diastolic dysfunction despite a "normal" echocardiogram if the study only assessed left ventricular ejection fraction and chamber size without comprehensive Doppler evaluation of diastolic parameters. 1

Understanding What "Normal" Means

The critical issue is defining what constitutes a "normal" echocardiogram:

• If "normal" refers only to preserved ejection fraction (>40-50%) and normal chamber dimensions, then diastolic dysfunction is not only possible but common—this is the definition of heart failure with preserved ejection fraction (HFpEF). 1

• If "normal" means a comprehensive study including Doppler assessment of diastolic parameters that all fall within normal ranges, then by definition diastolic dysfunction cannot be present, as the diagnosis requires objective echocardiographic abnormalities. 1

The Clinical Reality: Diastolic Dysfunction Requires Doppler Assessment

Diastolic dysfunction cannot be diagnosed without comprehensive two-dimensional and Doppler echocardiography demonstrating abnormal myocardial relaxation, decreased compliance, or elevated filling pressures. 2

Required Parameters for Diagnosis

The 2016 ASE/EACVI guidelines establish that diagnosing diastolic dysfunction requires assessment of: 1

• Mitral annular e' velocity (septal e' <7 cm/sec or lateral e' <10 cm/sec indicates abnormality) 1, 3
• Average E/e' ratio (>14 indicates elevated filling pressures) 1, 3
• Left atrial maximum volume index (>34 mL/m² suggests chronically elevated pressures) 1, 3
• Peak tricuspid regurgitation velocity (>2.8 m/sec indicates elevated pulmonary pressures) 1, 3

Structural Findings That Support Diastolic Dysfunction

Even with preserved ejection fraction, certain 2D findings strongly suggest diastolic dysfunction: 1

• Left ventricular hypertrophy (increased LV mass beyond gender-specific normal range) 1
• Left atrial enlargement (clearly larger than right atrium, excluding atrial arrhythmias and mitral valve disease) 1
• Proximal septal thickening (especially if >13mm, raising concern for hypertrophic cardiomyopathy) 4

Common Clinical Scenarios

Restrictive Cardiomyopathy

Patients with restrictive cardiomyopathy typically have normal ventricular size and systolic function on 2D imaging, but Doppler studies reveal characteristic abnormal inflow velocity profiles. 1

Heart Failure with Preserved Ejection Fraction

Diastolic dysfunction is present when a patient has heart failure symptoms with LV ejection fraction >40%, and this diagnosis is critical because treatment and prognosis differ from systolic heart failure. 1

Indeterminate Diastolic Function

Patients who don't meet half of the available diastolic criteria are classified as having "indeterminate" diastolic function, yet they still show significantly higher risk of cardiovascular death or heart failure admission compared to those with truly normal diastolic function. 5

• These patients have lower coronary flow reserve (3.2 ± 1.6 vs 3.5 ± 1.6) and higher prevalence of coronary microvascular dysfunction (10.6% vs 4.9%) compared to those without diastolic dysfunction. 5
• Presence of elevated LV filling pressure (E/e' >14) independently predicts adverse outcomes even in this "indeterminate" group. 5

Critical Pitfalls to Avoid

Relying Solely on Ejection Fraction

The most dangerous pitfall is dismissing diastolic dysfunction because ejection fraction is normal or even supranormal. 4

• In hypertrophic cardiomyopathy and early restrictive disease, EF may be preserved or increased despite significant underlying myocardial dysfunction. 4
• Diastolic dysfunction often precedes detectable systolic dysfunction and is associated with increased cardiovascular morbidity. 1

Overlooking Diastolic Parameters in Routine Studies

Many echocardiograms focus primarily on systolic function and valve assessment without comprehensive Doppler evaluation of diastolic parameters. 2

• A study showing 92% of patients with heart failure symptoms and normal EF had elevated LV end-diastolic pressure (average 24±8 mm Hg) when properly assessed. 6
• Every patient in this cohort had one or more abnormal diastolic indexes when comprehensively evaluated. 6

Ignoring Age-Related Changes

Normal aging causes slowing of LV relaxation that resembles mild diastolic dysfunction in younger patients, requiring age-adjusted interpretation. 1

• However, certain parameters are less age-dependent: E/e' ratio is very rarely >14 in normal individuals regardless of age. 1
• Valsalva maneuver response and pulmonary vein Ar-A duration are also relatively age-independent. 1

When Additional Testing Is Needed

Diastolic Stress Testing

Diastolic stress testing is indicated when resting echocardiography doesn't explain dyspnea symptoms, especially with exertion, in patients with grade I diastolic dysfunction at rest. 1, 3

• Patients with completely normal hearts and preserved e' velocity (septal >7 cm/sec, lateral >10 cm/sec) don't need stress testing. 1
• A positive test requires all three criteria during exercise: average E/e' >14, peak TR velocity >2.8 m/sec, and septal e' <7 cm/sec. 3

Advanced Imaging

Cardiac MRI should be considered if there is diagnostic uncertainty, as it provides better tissue characterization and can detect fibrosis. 4

• Global longitudinal strain (GLS) measurements may detect early systolic dysfunction even when EF appears normal. 4

The Bottom Line for Clinical Practice

A truly comprehensive "normal" echocardiogram that includes proper Doppler assessment of all diastolic parameters essentially rules out significant diastolic dysfunction. However, many routine echocardiograms focus on systolic function and may miss diastolic abnormalities entirely. 2

If a patient has heart failure symptoms with preserved ejection fraction, diastolic dysfunction should always be suspected and specifically evaluated with comprehensive Doppler techniques, regardless of whether the initial 2D images appear "normal." 1, 2