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

Heart Failure with Preserved Ejection Fraction (HFpEF)

The most likely diagnosis is C: Heart failure with preserved ejection fraction (HFpEF). This elderly patient presents with the classic triad of HF symptoms (exertional dyspnea, orthopnea), preserved systolic function (EF 60%), and concentric LVH—the hallmark structural abnormality seen in HFpEF patients with hypertensive heart disease 1.

Diagnostic Reasoning

Why HFpEF is the Answer

• The patient meets all diagnostic criteria for HFpEF: symptoms and signs of HF, LVEF ≥50% (patient has 60%), and structural cardiac abnormality (concentric LVH) 1, 2

• Concentric LVH is the defining structural feature: The vast majority of HFpEF patients have a history of hypertension with evidence of LVH on echocardiography 1. This represents chronic pressure overload leading to increased myocardial stiffness and diastolic dysfunction 1

• The demographic profile fits perfectly: HFpEF is most prevalent among elderly patients, particularly women, with hypertension as the predominant risk factor 1, 3

• The clinical presentation is typical: Exertional dyspnea and orthopnea reflect elevated LV filling pressures and pulmonary venous congestion characteristic of HFpEF 1, 3, 4

Why Not Restrictive Cardiomyopathy

• Restrictive cardiomyopathy is in the differential diagnosis of HF with preserved EF, but it represents a specific subset of infiltrative diseases (amyloidosis, sarcoidosis, hemochromatosis) 1

• The echocardiographic pattern differs: Restrictive cardiomyopathy typically shows biatrial enlargement, normal or reduced LV wall thickness (unless infiltrative), and a restrictive filling pattern with rapid early filling 2

• Concentric LVH points away from restriction: The presence of concentric hypertrophy suggests chronic pressure overload (hypertension) rather than infiltrative disease 1, 5

• Additional testing would be needed: Diagnosis of restrictive cardiomyopathy requires specific evaluation for infiltrative processes (cardiac MRI, endomyocardial biopsy, serum/urine protein electrophoresis) 2

Why Not Constrictive Pericarditis

• Constrictive pericarditis presents with preserved EF but has distinct features that are absent in this case 1

• Echocardiographic findings differ fundamentally: Constriction shows pericardial thickening, septal bounce, respiratory variation in mitral inflow velocities, and normal LV wall thickness—not concentric LVH 2

• The pathophysiology is opposite: Constriction involves external restraint by the pericardium preventing ventricular filling, whereas HFpEF involves intrinsic myocardial stiffness from hypertrophy and fibrosis 1, 4

• Concentric LVH excludes constriction: The presence of LVH indicates a myocardial process, not pericardial disease 2, 5

Clinical Context and Pathophysiology

The HFpEF Syndrome in Elderly Patients

• Aging profoundly affects diastolic function: Elderly patients develop decreased elastic properties of the heart and great vessels, increased systolic blood pressure, increased myocardial stiffness, and slowed ventricular filling due to fibrosis and impaired relaxation 1

• Hypertension drives concentric remodeling: Chronic pressure overload leads to concentric LVH as an adaptive response, but this eventually causes diastolic dysfunction with elevated filling pressures 1, 5

• The morbidity is substantial: HFpEF patients experience frequent hospitalizations and mortality rates nearly as high as HFrEF, with annual mortality approximately 15% 1, 3

Completing the Diagnostic Workup

To confirm HFpEF diagnosis, the following should be obtained:

• Natriuretic peptide levels: BNP >35 pg/mL or NT-proBNP >125 pg/mL in ambulatory patients supports the diagnosis 1

• Echocardiographic diastolic parameters: E/e' ratio ≥15 confirms elevated LV filling pressures; E/e' 9-14 is intermediate and may require exercise testing 1, 2

• Left atrial enlargement: Increased left atrial volume index supports chronically elevated filling pressures 1, 5

• Exclude HFpEF mimics: Rule out significant valvular disease (especially aortic stenosis, mitral regurgitation), infiltrative cardiomyopathies, and pericardial disease 1, 2

Critical Pitfalls to Avoid

• Do not assume all dyspnea with preserved EF is HFpEF: Carefully exclude noncardiac causes (pulmonary disease, obesity, deconditioning, anemia) and cardiac mimics (valvular disease, infiltrative disease, constriction) 1, 2

• Recognize that diastolic dysfunction parameters can be misleading: Loading conditions, heart rate, mitral regurgitation, and age affect Doppler measurements 1

• Consider exercise testing if resting evaluation is inconclusive: Approximately 35% of HFpEF patients have normal resting hemodynamics but develop elevated filling pressures with exertion 3, 6

• Do not overlook obesity as a confounder: Obese patients may have lower natriuretic peptide levels despite true HFpEF 1, 2