Differential diagnosis of heart failure with preserved ejection fraction

Heart failure with preserved ejection fraction (HFpEF)

HFpEF (contributing factors include hypertension, aging, coronary heart disease, diabetes mellitus, sleep-disordered breathing, chronic kidney disease, and obesity)

Cardiomyopathies with preserved ejection fraction

Restrictive cardiomyopathy

Familial causes include sarcomeric gene mutations, familial amyloidosis (transthyretin [TTR] or apolipoprotein mutation), unknown gene mutation, familial causes of iron overload (hereditary hemochromatosis, hereditary anemias), Fabry disease, glycogen storage disease, desminopathy, and pseudoxanthoma elasticum

Nonfamilial causes include amyloid (immunoglobulin light chain [AL] or wild-type transthyretin [ATTR]), systemic sclerosis, endomyocardial fibrosis (idiopathic, caused by hypereosinophilic syndrome, or reaction to a drug), carcinoid heart disease, metastatic cancer, radiation, nonfamilial iron overload (eg, acquired iron-loading anemia, high-dietary intake), and drug toxicity (anthracycline)

Hypertrophic cardiomyopathy

Familial causes in addition to sarcomere gene mutations include unknown mutations, glycogen storage disease, lysosomal disease (including Fabry disease), syndromic hypertrophic cardiomyopathy (eg, Noonan syndrome, LEOPARD syndrome, Friedreich ataxia), and familial amyloidosis (TTR or apolipoprotein mutation)

Nonfamilial causes include nonfamilial amyloidosis (AL or wild-type ATTR)

Noncompaction cardiomyopathy

Valvular heart disease

Valvular stenosis

Valvular regurgitation

Right heart failure

Pulmonary hypertension

Right ventricular infarction

Arrhythmogenic right ventricular cardiomyopathy

Pericardial disease

Cardiac tamponade

Constrictive pericarditis

Effusive-constrictive pericardial disease

Obstructive lesion in heart or great vessel

Atrial myxoma

Pulmonary vein stenosis

High-output heart failure

Transient left ventricular systolic dysfunction

Adapted from: Oh JK, Hatle L, Tajik AJ, Little WC. Diastolic heart failure can be diagnosed by comprehensive two-dimensional and Doppler echocardiography. J Am Coll Cardiol 2006; 47:500.

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Differential diagnosis of heart failure with preserved ejection fraction