Differential Diagnosis for Diastolic Heart Failure

To approach the diagnosis of diastolic heart failure, it's crucial to consider various conditions that could mimic or contribute to its presentation. The differential diagnosis can be categorized as follows:

• Single Most Likely Diagnosis
  • Hypertensive Heart Disease: This is often the most common cause of diastolic heart failure. Chronic hypertension leads to left ventricular hypertrophy, which impairs the ventricle's ability to relax and fill during diastole, resulting in diastolic dysfunction.
• Other Likely Diagnoses
  • Diabetes Mellitus: Diabetes can lead to diabetic cardiomyopathy, which often presents with diastolic dysfunction. The metabolic derangements associated with diabetes directly affect the myocardium, impairing its relaxation properties.
  • Obstructive Sleep Apnea (OSA): OSA can lead to intermittent nocturnal hypertension and increased afterload, contributing to left ventricular hypertrophy and diastolic dysfunction over time.
  • Aortic Stenosis: Significant aortic stenosis can lead to left ventricular hypertrophy as the ventricle works harder to pump blood through the narrowed valve, potentially resulting in diastolic dysfunction.
• Do Not Miss Diagnoses
  • Cardiac Amyloidosis: Although less common, cardiac amyloidosis can present with diastolic heart failure. It's crucial to consider this diagnosis due to its poor prognosis and the availability of specific treatments.
  • Hemochromatosis: Iron overload from hemochromatosis can lead to a restrictive cardiomyopathy, which may mimic diastolic heart failure. Early diagnosis is critical to prevent irreversible damage.
  • Constrictive Pericarditis: This condition can present similarly to diastolic heart failure, with signs of heart failure and preserved ejection fraction. It requires specific treatment, such as pericardiectomy.
• Rare Diagnoses
  • Fabry Disease: A genetic disorder leading to the accumulation of globotriaosylceramide in various tissues, including the heart, resulting in left ventricular hypertrophy and diastolic dysfunction.
  • Sarcoidosis: Cardiac involvement in sarcoidosis can lead to a restrictive cardiomyopathy or direct infiltration of the myocardium, mimicking diastolic heart failure.
  • Glycogen Storage Diseases: Certain glycogen storage diseases can affect the heart, leading to hypertrophic cardiomyopathy or restrictive cardiomyopathy, which may present with features of diastolic heart failure.

Each of these diagnoses has a distinct pathophysiology and requires a tailored approach to diagnosis and management. A thorough clinical evaluation, including history, physical examination, and appropriate diagnostic tests (e.g., echocardiography, cardiac MRI), is essential for accurately diagnosing the underlying cause of diastolic heart failure.