What is the most likely diagnosis for an elderly patient presenting with exertional dyspnea, orthopnea, and signs of heart failure, with echocardiography showing concentric left ventricular hypertrophy and a normal left ventricular ejection fraction (LVEF) of 60%?

Most Likely Diagnosis: Heart Failure with Preserved Ejection Fraction (HFpEF)

The most likely diagnosis is Heart Failure with Preserved Ejection Fraction (HFpEF), given the classic presentation of an elderly patient with heart failure symptoms, concentric left ventricular hypertrophy, and a normal ejection fraction of 60%. 1

Diagnostic Reasoning

Clinical Presentation Matches HFpEF Profile

• HFpEF is most prevalent among elderly patients who present with typical heart failure symptoms including exertional dyspnea and orthopnea, exactly as described in this case 1
• The patient demonstrates classic heart failure signs with LVEF ≥50% (60% in this case), which by definition categorizes this as HFpEF 1, 2
• Concentric left ventricular hypertrophy is the hallmark structural abnormality seen in HFpEF patients, typically resulting from chronic hypertension and age-related myocardial stiffening 1

Why Not the Other Diagnoses?

Restrictive cardiomyopathy is less likely because:

• While restrictive cardiomyopathy can present with preserved EF and heart failure symptoms, it represents a specific subset of infiltrative diseases (amyloidosis, sarcoidosis, hemochromatosis) that require additional diagnostic evidence 1
• The guidelines explicitly list restrictive cardiomyopathy in the differential diagnosis table for HFpEF, indicating it should be excluded rather than assumed as the primary diagnosis 1
• Concentric LVH is the typical pattern in HFpEF from hypertension, not the infiltrative pattern seen in restrictive cardiomyopathy 1

Constrictive pericarditis is unlikely because:

• Constrictive pericarditis is listed as a mimic that must be excluded when diagnosing HFpEF 1
• The echocardiographic finding of concentric LVH points to myocardial disease, not pericardial disease 1
• Constrictive pericarditis would show different echocardiographic features including pericardial thickening and characteristic ventricular interdependence 3

Pathophysiologic Support

Age-Related Changes in Elderly Patients

• Aging has a greater impact on ventricular filling characteristics than on ejection fraction, explaining why elderly patients develop HFpEF 1
• Aging causes decreased elastic properties of the heart and great vessels, leading to increased systolic blood pressure and myocardial stiffness 1
• Structural changes from fibrosis and decline in relaxation and compliance reduce ventricular filling rates in elderly patients 1

Concentric LVH as the Key Finding

• The vast majority of HFpEF patients have a history of hypertension with evidence of LVH on echocardiography, making this the expected finding 1
• Concentric hypertrophy in HFpEF represents adaptive remodeling to chronic pressure overload, distinct from the eccentric remodeling seen in HFrEF 4

Diagnostic Confirmation Steps

Essential Exclusions Before Finalizing HFpEF Diagnosis

• Rule out valvular abnormalities (aortic stenosis, mitral regurgitation) on echocardiography, as these can mimic HFpEF 1
• Exclude infiltrative cardiomyopathies (amyloidosis, sarcoidosis, hemochromatosis) and pericardial constriction through clinical assessment and additional testing if suspicion exists 1, 3
• Verify elevated natriuretic peptides (BNP >35 pg/mL or NT-proBNP >125 pg/mL in ambulatory setting) to support the diagnosis 1, 3

Supporting Diagnostic Features to Assess

• Evaluate for diastolic dysfunction parameters including E/e' ratio >9, left atrial enlargement, and elevated pulmonary artery systolic pressure >35 mm Hg 1, 3
• Apply the H2FPEF score incorporating age >60 years, obesity, atrial fibrillation, ≥2 antihypertensive medications, E/e' ratio, and PA systolic pressure; scores ≥6 indicate high likelihood of HFpEF 1, 5

Common Pitfalls to Avoid

• Do not assume restrictive cardiomyopathy without specific evidence of infiltrative disease; HFpEF with concentric LVH from hypertension is far more common in elderly patients 1, 5
• Recognize that HFpEF is often a diagnosis of exclusion after ruling out specific mimics, but the clinical presentation here is classic and does not require exhaustive testing for rare conditions 3
• Avoid over-reliance on a single echocardiographic parameter; the diagnosis integrates clinical symptoms, structural abnormalities (concentric LVH), preserved EF, and elevated filling pressures 3, 6
• Remember that normal EF does not mean normal cardiac function; diastolic dysfunction with elevated filling pressures is the fundamental abnormality in HFpEF 1, 7