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Diastolic Dysfunction: Causes, Symptoms and Treatment

Diastolic dysfunction is a cardiac condition in which the left ventricle fails to relax and fill properly. It is a leading cause of heart failure with preserved ejection fraction (HFpEF).

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Things worth knowing about "Diastolic Dysfunction"

Diastolic dysfunction is a cardiac condition in which the left ventricle fails to relax and fill properly. It is a leading cause of heart failure with preserved ejection fraction (HFpEF).

What is Diastolic Dysfunction?

Diastolic dysfunction refers to an impairment of the heart relaxation and filling phase, known as diastole. During this phase, the left ventricle should actively relax and fill with blood. When diastolic dysfunction is present, this process is disrupted, resulting in reduced blood uptake and elevated pressures within the heart chambers. Over time, this can lead to heart failure with preserved ejection fraction (HFpEF) -- a condition where the pumping function of the heart appears normal, but the filling function is impaired.

Causes

Diastolic dysfunction can be triggered by a variety of diseases and risk factors:

Arterial hypertension (high blood pressure): The most common cause; elevated blood pressure leads to thickening (hypertrophy) of the heart muscle wall.
Coronary artery disease: Reduced blood flow to the heart muscle impairs its ability to relax.
Diabetes mellitus: Elevated blood sugar damages cardiac cells and reduces ventricular compliance (flexibility).
Cardiomyopathies: Such as hypertrophic or restrictive cardiomyopathy.
Aging: The elasticity of the heart muscle naturally decreases with age.
Obesity: Excess body weight promotes structural changes in the heart.

Symptoms

The symptoms of diastolic dysfunction can range from mild to severe and are often non-specific:

Exertional dyspnea: Shortness of breath during physical activity
Orthopnea: Breathlessness when lying down, relieved by sitting up
Fatigue and reduced exercise tolerance
Fluid retention (edema) in the legs or lungs
Nocturia: Frequent urination during the night
Palpitations or irregular heartbeat

In early stages, diastolic dysfunction may be entirely asymptomatic.

Diagnosis

Diagnosis is established through a combination of clinical evaluation, medical history, and diagnostic testing:

Echocardiography (cardiac ultrasound): The primary diagnostic tool; assesses filling pressures, relaxation, and cardiac structure using Doppler measurements.
ECG (electrocardiogram): May reveal signs of left ventricular hypertrophy or arrhythmias.
Blood tests: Measurement of BNP or NT-proBNP (natriuretic peptides), which rise in response to elevated cardiac filling pressures.
Stress testing: Stress echocardiography or cardiopulmonary exercise testing to assess exercise capacity.
Cardiac catheterization: Invasive pressure measurements may be required in ambiguous cases.

Grading According to ESC Classification

The European Society of Cardiology (ESC) distinguishes four grades of diastolic dysfunction (Grade I to IV), ranging from mild relaxation impairment (Grade I) to severe restrictive filling patterns (Grade IV).

Treatment

To date, no specific disease-modifying therapy exists for diastolic dysfunction. Treatment focuses on controlling underlying conditions and relieving symptoms:

Blood pressure control: Antihypertensive medications such as ACE inhibitors, angiotensin receptor blockers, or beta-blockers are central to management.
Diuretics: Reduce fluid accumulation and relieve cardiac workload.
SGLT2 inhibitors: Emerging evidence shows that gliflozins (e.g., empagliflozin, dapagliflozin) can reduce hospitalization rates in HFpEF.
Heart rate control: In atrial fibrillation, adequate rate control is essential, as the heart with diastolic dysfunction depends on sufficient filling time.
Management of comorbidities: Optimal control of diabetes, thyroid disease, and obesity.
Lifestyle modifications: Regular moderate physical activity, low-sodium diet, weight reduction, and smoking cessation.

Prognosis

The prognosis of diastolic dysfunction depends heavily on the grade of dysfunction, symptom severity, and comorbid conditions. When detected and treated early, disease progression can be slowed. However, advanced stages with manifest HFpEF are associated with increased mortality and hospitalization rates.

References

McDonagh T. A. et al. - 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure. European Heart Journal, 2021.
Nagueh S. F. et al. - Recommendations for the Evaluation of Left Ventricular Diastolic Function by Echocardiography. Journal of the American Society of Echocardiography, 2016.
Pieske B. et al. - How to diagnose heart failure with preserved ejection fraction: the HFA-PEFF diagnostic algorithm. European Heart Journal, 2019.

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