Heart Valve Disease — Symptoms, Causes & Treatment | MyMedicPlus

Heart valve disease occurs when one or more of the four heart valves (mitral, aortic, tricuspid, pulmonary) do not function properly, either failing to open fully (stenosis) or closing incompletely (regurgitation/insufficiency). The condition affects approximately 2.5% of the population globally, with prevalence increasing markedly with age. Aortic stenosis (calcific narrowing of the aortic valve) is the most common severe valvular disease in developed countries, driven by the aging population. Untreated significant valve disease leads to heart failure, arrhythmias, and premature death. The prevalence of valvular heart disease is dramatically increasing in developed countries due to population ageing — calcific aortic stenosis, previously rare, now affects 3-5% of those over 75 years of age, making echocardiographic screening and timely intervention increasingly important in the ageing population.

Degenerative calcification is the most common cause of aortic stenosis in adults over 65. Rheumatic fever — a complication of group A streptococcal pharyngitis — remains the leading cause of valve disease globally, predominantly affecting the mitral valve. Mitral valve prolapse (Barlow's syndrome) is the most common cause of mitral regurgitation in developed nations. Congenital bicuspid aortic valve (1% of population) accelerates aortic stenosis by decades. Infective endocarditis destroys valve leaflets, causing acute severe regurgitation. Ischemic heart disease causes functional mitral regurgitation from papillary muscle dysfunction or annular dilatation. Infective endocarditis remains an important cause of acute valve destruction — particularly affecting the mitral and aortic valves — from viridans streptococci (dental flora), Staphylococcus aureus (IV drug use), and enterococci (genitourinary procedures), causing acute severe regurgitation requiring emergency surgery.

Mild valve disease is often asymptomatic and detected as a murmur on examination. Significant aortic stenosis presents with the classic triad of exertional angina, syncope (fainting), and dyspnea (breathlessness), typically appearing in the seventh decade. Mitral stenosis causes dyspnea, orthopnea, hemoptysis, and atrial fibrillation. Mitral regurgitation causes fatigue, dyspnea, and palpitations. Tricuspid regurgitation causes peripheral edema, ascites, and pulsatile hepatomegaly. Physical examination reveals characteristic murmurs — crescendo-decrescendo systolic murmur at the right sternal edge (aortic stenosis) or pansystolic murmur at the apex (mitral regurgitation). The insidious onset of symptoms in valvular heart disease — often attributed by patients and clinicians to ageing, deconditioning, or anxiety — frequently leads to delayed presentation when significant left ventricular dysfunction has already developed, highlighting the importance of regular echocardiographic surveillance in known valve disease to identify the optimal intervention window.

Transthoracic echocardiography (TTE) is the primary investigation, providing accurate assessment of valve morphology, degree of stenosis or regurgitation, valve area, pressure gradients, ventricular function, and chamber dimensions. Doppler measurements quantify hemodynamic severity. Transesophageal echocardiography (TEE) provides superior resolution of mitral valve anatomy, vegetations (endocarditis), and aortic dissection. CT cardiac angiography is essential before TAVI to assess annular dimensions and vascular access. Cardiac catheterization remains the gold standard for pressure gradient assessment when echocardiography is inconclusive. BNP levels reflect hemodynamic stress and guide timing of intervention. Exercise stress echocardiography is increasingly used to unmask symptoms and haemodynamic changes during exercise in patients with apparently asymptomatic severe valve disease, as it identifies those at higher risk of rapid deterioration who benefit from earlier intervention.

Severe symptomatic aortic stenosis requires aortic valve replacement — either surgical aortic valve replacement (SAVR) for low-to-intermediate surgical risk, or transcatheter aortic valve implantation (TAVI) for high-surgical-risk or inoperable patients. TAVI is increasingly used even in intermediate-risk patients with excellent outcomes. Severe mitral regurgitation is treated by surgical mitral valve repair (preferred over replacement for degenerative disease — preserves LV function) or transcatheter mitral valve repair (MitraClip) in high-risk patients. Balloon mitral valvuloplasty treats pliable rheumatic mitral stenosis. Mechanical valves require lifelong anticoagulation (warfarin INR 2.5–3.5); bioprosthetic valves do not but have a 15–20 year lifespan. The landmark PARTNER and SURTAVI trials have firmly established TAVI as equivalent or superior to surgical aortic valve replacement in intermediate-risk patients, leading to major international guideline revisions recommending TAVI even for low surgical risk patients in heart teams experienced in both techniques.

Untreated severe symptomatic aortic stenosis carries 50% 2-year mortality — worse than many cancers. Heart failure from chronic pressure or volume overload causes irreversible ventricular dysfunction if intervention is delayed beyond the symptomatic threshold. Atrial fibrillation (especially in mitral stenosis) significantly increases stroke risk. Infective endocarditis can complicate any valve disease or prosthetic valve. Prosthetic valve thrombosis — life-threatening mechanical valve clotting — requires emergency thrombolysis or re-operation. Paravalvular leak after valve replacement causes hemolytic anemia and may require re-intervention.

Prevent rheumatic fever — the primary preventable cause globally — by promptly treating streptococcal sore throat with antibiotics and providing secondary prophylaxis (monthly benzathine penicillin injections for 10 years after rheumatic fever) in endemic regions. Control hypertension and hyperlipidemia to slow progression of calcific aortic stenosis. Avoid dental procedures without appropriate antibiotic prophylaxis in patients with prosthetic valves or previous endocarditis (high-risk categories per current guidelines). Monitor known valve disease with regular echocardiography (annually for severe disease, every 3–5 years for mild) and act on surgical indication triggers before irreversible ventricular dysfunction occurs.

Call emergency services (999/911) or attend Emergency Department immediately for: acute severe breathlessness — which may indicate pulmonary oedema from sudden haemodynamic decompensation (acute mitral regurgitation from chordae rupture, or acute aortic regurgitation from aortic dissection or endocarditis); chest pain with a known valve condition — must exclude acute aortic dissection (which can cause acute aortic regurgitation) and acute coronary syndrome; syncope (fainting) or near-syncope in someone with known aortic stenosis — a critical symptom indicating the need for urgent valve replacement; high fever with rigors and known heart valve disease or prosthetic valve — infective endocarditis must be excluded urgently (blood cultures before antibiotics; echocardiography); acute stroke in a patient with mitral stenosis or prosthetic valve (cardioembolic stroke — requires urgent neurological assessment). See your cardiologist urgently if: increasing breathlessness, leg swelling, or reduced exercise tolerance in someone with known valve disease — suggests decompensation and need for reassessment of surgical timing. Do not miss surveillance echocardiography appointments — symptoms are the trigger for intervention in most valve diseases, and missing the optimal surgical window leads to irreversible ventricular dysfunction.