Valvular Heart Disease | Diagnosis | Overview

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Introduction

Valvular heart diseases (VHD) are a group of conditions that affect the heart valves. Valvular pathologies affect the heart’s ability to pump blood efficiently. Depending on the extent of impairment, this can lead to life-threatening complications such as cardiac failure and stroke.¹

This article is an overview of the different types of valvular heart diseases.

Cardiac valves

The heart has four chambers, two atria and two ventricles. Valves separate each chamber, promoting unidirectional blood flow throughout the heart and into the pulmonary and systemic circulations. The atrioventricular valves (mitral and tricuspid) separate the atria and ventricles, while the semilunar valves (aortic and pulmonary) permit blood flow from the ventricles into the arteries.

Valvular pathologies can result in stenosis, regurgitation, or both in the same valve.

Stenosis is the failure of a valve to open completely, impeding the forward flow of blood.

Regurgitation is the failure of a valve to close completely, allowing blood to backflow.

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Aortic stenosis

Introduction

Aortic stenosis (AS) is characterised by narrowing of the aortic valve, causing obstructed blood flow from the left ventricle to the aorta during systole.³

Aetiology

The most common causes of AS include:

• Aortic sclerosis: progressive calcification and fibrosis of valve leaflets, causing narrowing of the valve (most common cause in developed countries)
• Bicuspid aortic valve (BAV): fusion of leaflets during fetal development, resulting in two functional cusps instead of the usual three⁴

Risk factors

Cardiovascular risk factors for AS include:

Other risk factors for AS include:

• Advanced age (build-up of hydroxyapatite over time)
• Male sex
• Family history of BAV
• Turner syndrome (higher predisposition to BAV)⁵

Clinical features

AS is associated with an ejection systolic murmur heard loudest over the aortic area.

Mild to moderate AS can present asymptomatically.

Common features associated with severe AS include:

• Dyspnoea (often on exertion, on rest if very severe)
• Angina pectoris
• Dizziness
• Syncope

Investigations

Investigations for AS may include:

• Echocardiography (gold standard): to assess valvular morphology and function
• ECG: may show signs of left ventricular hypertrophy (LVH)
• Chest X-ray: may show signs of cardiac failure
• Cardiac CT or MRI: for detailed imaging of valve and aorta, or precise assessment of ventricular function or fibrosis
• Cardiac catheterisation: for patients with inconclusive results upon non-invasive testing
• Genetic testing (e.g. for Turner syndrome)

Management

Management of valvular heart disease requires shared decision-making within a multidisciplinary team, taking into account the patient’s age, health status, and comorbidities.

In those asymptomatic or with mild-moderate AS:

• Lifestyle modification: avoid smoking, manage cholesterol and blood pressure
• Periodic echocardiograms: for stenosis and aortic valve area
• Consider early valve replacement

In those symptomatic and/or with severe AS:

• Surgical aortic valve replacement (SAVR): open-heart surgery
• Transcatheter aortic valve implantation (TAVI): catheter-delivered valve replacement through a blood vessel, indicated for older patients (>75 years) with severe AS, where surgical risk is high or prohibitive⁶

Complications

Complications of AS include:

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Aortic regurgitation

Introduction

Aortic regurgitation (AR) is characterised by incomplete closure of the aortic valve, causing backflow of blood from the aorta into the left ventricle during diastole.⁷

Aetiology

Common causes of acute AR include:

• Infective endocarditis (IE): bacterial infection of the endocardium, forming large, infected vegetations on damaged valves
• Aortic dissection: torn intima in the aorta, leading to a false lumen with a progressively growing haematoma
• Post-TAVI complications (e.g. paravalvular regurgitation, where blood leaks through an implanted valve)^8-9

Chronic AR can be caused by:

• Aortic sclerosis
• Bicuspid aortic valve: also associated with increased risk of aortic dissection

Risk factors

Risk factors for AR include:

• Older age
• Cardiovascular risk factors (e.g. hypertension)
• Congenital heart defects (e.g. BAV)
• Connective tissue disorders (e.g. Marfan syndrome, Ehlers-Danlos syndrome)
• Aortic stenosis

Clinical features

AR is associated with a decrescendo early diastolic murmur, heard loudest at the left sternal edge.

Clinical features of AR include:

• Lightheadedness
• Fatigue
• Exertional dyspnoea
• Oedema
• Palpitations

Investigations

Investigations for AR may include:

• Echocardiography: to confirm the diagnosis and to assess the severity of regurgitation
• ECG: may show LVH or non-specific ST changes
• Chest X-ray: may show cardiac or aortic enlargement
• Cardiac MRI: if echocardiography is inadequate, or to precisely quantify the volume of regurgitation
• Cardiac CT: if associated aortic pathologies are suspected, e.g. aortic dissection

Management

Management of AR includes:

• Modification of cardiac risk factors: for all patients (e.g. lowering blood pressure)
• Serial echocardiography: for asymptomatic patients to monitor progression
• Surgical aortic valve replacement: for severe and/or symptomatic AR
• Antibiotics: initial management for those with acute AR secondary to IE, following blood cultures

Complications

Complications of AR include:

• Heart failure due to valvular insufficiency
• Arrhythmias
• Cardiogenic shock
• Thromboembolic events

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Pulmonary stenosis

Introduction

Pulmonary stenosis (PS) is defined as obstruction of blood flow from the right ventricle into the pulmonary artery during systole.¹⁰

Aetiology

Common causes of PS include:

• Congenital heart defects (e.g. Tetralogy of Fallot): due to narrowing of the pulmonary valve
• Genetics (e.g. Noonan syndrome): a rare mutation in the PTPN11 gene on chromosome 12
• Carcinoid syndrome: a paraneoplastic syndrome which can damage the heart valves, primarily caused by excess serotonin secretion from metastatic neuroendocrine neoplasms^11-13

Risk factors

Risk factors for PS include:

• Congenital heart defects
• Genetic conditions
• Fetal exposure to rubella during pregnancy
• Rheumatic fever

Clinical features

PS is associated with an ejection systolic murmur heard loudest over the pulmonary area.

Clinical features of PS depend on the severity and include:

• Dyspnoea with or without exertion, which can progress to orthopnoea or paroxysmal nocturnal dyspnoea
• Fatigue
• Non-exertional chest pain
• Peripheral oedema
• Palpitations

Investigations

Investigations for PS may include:

• Echocardiography: to confirm the diagnosis and assess the severity of stenosis
• Fetal echocardiography (during pregnancy)
• ECG: may show signs of right ventricular strain or hypertrophy
• Chest X-ray: may show pulmonary artery dilatation
• Cardiac CT or MRI: for detailed visualisation of the right ventricle, pulmonary artery and valve

Management

Serial echocardiography is indicated for asymptomatic patients and those with mild PS.

Interventional procedures for severe PS include:

• Balloon valvuloplasty (preferred): where a balloon is inserted via a catheter and inflated to open the stenotic valve
• Pulmonary valve replacement¹⁴

Complications

Complications of PS include:

• Right ventricular hypertrophy: a compensatory mechanism due to inefficient pumping of blood into the pulmonary artery
• Arrhythmias
• Infective endocarditis
• Heart failure
• Complications during pregnancy and childbirth

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Pulmonary regurgitation

Introduction

Pulmonary regurgitation (PR) is characterised by incomplete closure of the pulmonary valve, causing a backflow of blood from the pulmonary artery into the right ventricle during diastole.¹⁵

Aetiology

Common causes of PR include:

• Pulmonary hypertension: due to stretching and dilation of the pulmonary valve
• Surgical complications (e.g. from ToF repair or trauma)
• Carcinoid syndrome

Risk factors

Risk factors for PR include:

• Pulmonary hypertension
• Infective endocarditis: due to the damaged integrity of valve leaflets
• Connective tissue disease (e.g. Marfan’s syndrome)
• Congenital syphilis: due to its association with persistent pulmonary hypertension of the newborn (PPHN)¹⁶

Clinical features

PR is associated with an early diastolic decrescendo murmur heard loudest over the left sternal edge.

Patients are often asymptomatic. Symptomatic patients most commonly present with heart failure features, including:

• Dyspnoea with or without exertion, which can progress to orthopnoea or paroxysmal nocturnal dyspnoea
• Fatigue
• Non-exertional chest pain
• Peripheral oedema
• Palpitations

Investigations

Investigations for PR may include:

• Echocardiography: to confirm diagnosis, assess the severity of regurgitation, and visualise right ventricular size
• ECG: often normal, may show right axis deviation and/or QRS prolongation
• Chest X-ray: may show pulmonary artery or right ventricular dilatation
• Cardiac CT or MRI: for detailed visualisation of the right ventricle, pulmonary artery, valve and outflow tract

Management

Treatment is often targeted toward addressing the underlying causes of PR. Unlike AR, it rarely requires surgery.

Pulmonary valve repair is indicated in patients with symptomatic PR secondary to ToF repair. Transcatheter valve replacement is preferred over open surgery (less invasive).

Complications

Complications of PR include:

• Right-sided heart failure
• Infective endocarditis
• Arrhythmia
• Thromboembolic events, e.g. stroke
• Complications of valve replacement, e.g. bleeding

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Mitral stenosis

Introduction

Mitral stenosis (MS) is characterised by narrowing of the mitral valve orifice, impairing blood flow from the left atrium to the left ventricle.¹⁷

Aetiology

MS usually occurs following fusion, thickening or calcification of valve leaflets.

Common causes include:

• Acute rheumatic fever (ARF): an autoimmune inflammatory reaction in response to infection with group A Streptococcus (GAS), also known as Streptococcus pyogenes. It can affect the heart, central nervous system, joints and skin.
• Rheumatic heart disease (RHD): a complication of ARF, characterised by chronic damage to cardiac valves and/or muscle
• Mitral annular calcification (MAC): buildup of calcium deposits around the annulus due to ageing¹⁸

Risk factors

Risk factors for MS include:

• Infection with Group A streptococcus (GAS)
• Female sex: 3 times more likely than male
• Old age (70-90 years): more susceptible to MAC
• Young age (children aged 5-15 years): more susceptible to ARF and RHD
• Overcrowded living conditions: increased risk of GAS spread

Clinical features

MS is associated with a low-pitched, rumbling mid-diastolic murmur, heard loudest over the apex.

Patients typically start asymptomatic, with progressive development of clinical features, including:

• Dyspnoea
• Right heart failure symptoms (e.g. peripheral oedema, jugular venous distension)
• Orthopnoea, paroxysmal nocturnal dyspnoea (depending on severity)
• Fatigue
• Palpitations

Investigations

Investigations for MS may include:

• Echocardiography: to confirm diagnosis, assess the severity of stenosis, and identify calcification or fusion of the mitral valve
• ECG: may show broad or biphasic P waves or atrial fibrillation
• Chest X-ray: may show left atrial dilatation and/or pulmonary congestion
• Laboratory tests: FBC, ESR, CRP (for non-specific signs of inflammation), antistreptolysin O titre and antistreptococcal DNase B titre (which confirm recent GAS infection)

Management

Initial management of MS includes serial echocardiography and management of precipitating causes and cardiac risk factors.

For underlying GAS infections, treat with antibiotics (oral penicillin V or IM penicillin G).

Interventional management is indicated for patients with severe symptomatic MS secondary to rheumatic heart disease, and may include:

• Balloon valvuloplasty
• Surgical valve repair or valve replacement (usually also appropriate for patients with MAC)

Treatment can vary significantly, especially for non-rheumatic causes of MS.

Complications

Complications of MS include:

• High risk of atrial fibrillation, due to left atrial enlargement
• Stroke, due to the risk of thromboembolism
• Infective endocarditis
• Congestive heart failure

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Mitral regurgitation

Introduction

Mitral regurgitation (MR) is characterised by leakage of blood from the left ventricle into the left atrium due to incomplete closure of the valve leaflets during systole.¹⁹

Aetiology

Primary MR

Primary MR is caused by degenerative conditions of the mitral valve, such as:

• Mitral valve prolapse (MVP): the most common cause of MR, where the mitral valve cusps bulge into the left atrium during systole due to myxomatous degeneration
• MAC
• Papillary muscle rupture: a typical complication of myocardial infarction (MI), characterised by a loss of structural support from the chordae tendineae^20-21

Secondary MR

Secondary MR is linked to pathologies which cause left ventricular remodelling, such as:

• Dilated cardiomyopathy: progressive dilation and impaired contraction of the ventricles
• Coronary artery disease: weakened papillary muscles due to ischemia, causing valve dysfunction²²

Risk factors

Risk factors for MR include:

• History of RHD
• Infective endocarditis
• Prior MI
• High systolic blood pressure
• Advanced age

Clinical features

MR is associated with a pansystolic murmur, heard loudest over the mitral area.

Clinical features are often similar to those of left-sided heart failure, and include:

• Fatigue
• Shortness of breath (with or without exertion)
• Orthopnoea
• Palpitations
• Peripheral oedema
• Symptoms of pulmonary oedema (e.g. fine bibasilar crackles on inspiration)

Investigations

Investigations for MR may include:

• Echocardiography: to confirm diagnosis, assess the severity of valve dysfunction, and visualise ventricular size
• ECG: may show atrial fibrillation or ischaemia
• Chest X-ray: may show signs of pulmonary congestion or pulmonary oedema
• Laboratory tests: dynamic troponin elevation may indicate myocardial ischaemia

Management

Medical therapy (e.g. diuretics, beta blockers, ACE inhibitors) should be utilised for all patients to manage symptoms of heart failure and improve forward flow. Patients should also be monitored closely for cardiac comorbidities, such as hypertension. However, surgery is the definitive treatment.

Acute primary MR is an indication for urgent surgical valve repair or replacement.

Symptomatic patients who have high surgical risk may be considered for transcatheter mitral valve intervention.

Complications

Complications of MR include:

• Congestive heart failure
• Atrial fibrillation
• Pulmonary hypertension
• Thromboembolic events, e.g. stroke
• Cardiogenic shock

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Tricuspid stenosis

Introduction

Tricuspid stenosis (TS) is a rare condition characterised by impaired diastolic blood flow from the right atrium to the right ventricle due to narrowing of the tricuspid valve orifice.²³

Aetiology

TS most commonly occurs as a late complication of ARF.

Other causes can include infective endocarditis (secondary to IV drug use) and carcinoid tumours.

Risk factors

Risk factors for TS include:

• 20-39 years of age: most common age range to present with RHD following ARF in childhood
• History of ARF (and GAS pharyngitis)
• Presence of metastatic carcinoid tumours
• IV drug use: predisposition to IE
• Artificial tricuspid valve: predisposition to bacterial infection

Clinical features

TS is associated with a mid-diastolic murmur, heard loudest at 3rd – 4th intercostal space at the left sternal edge.

Patients with TS often present with features caused by systemic venous congestion and reduced cardiac output, including:

• Fatigue
• Dyspnoea
• Abdominal distension
• Peripheral oedema
• Cyanosis
• Exercise intolerance

Investigations

Investigations for TS may include:

• Echocardiography: to confirm diagnosis, determine the severity of stenosis, and visualise blood flow
• ECG: atrial fibrillation or tall P-waves are common
• Chest X-ray: may show an enlarged cardiac silhouette, enlargement of the right atrium and/or a prominent right heart border
• FBC (for leukocytosis) and blood culture (for bacterial colonies), which may indicate IE
• LFTs: may show nonspecific raised hepatic enzymes due to hepatic congestion

Management

Conservative and medical management is indicated for all patients with TS to treat systemic venous congestion and reduced pulmonary blood flow. This includes:

• Fluid and sodium restriction
• Medical treatment of underlying pathology (e.g. antibiotics for IE)
• Diuretics for venous congestion

Surgical valve repair or replacement is indicated for those with persistent right heart failure or low cardiac output. However, the morbidity and mortality of tricuspid valve replacement are very high.

Complications

Complications of TS include:

• Atrial fibrillation
• Right-sided heart failure
• Liver failure
• Infective endocarditis
• Thromboembolic events

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Tricuspid regurgitation

Introduction

Tricuspid regurgitation (TR) is a rare condition, characterised by leakage of blood from the right ventricle to the right atrium during systole due to insufficient valve closure.²⁴

Aetiology

Causes of TR include:

• Infective endocarditis
• Carcinoid heart disease: a complication of carcinoid syndrome, leading to valvular scarring
• ARF
• Congenital (e.g. Ebstein’s anomaly): causing tricuspid malformation and apical displacement
• Trauma (e.g. from endomyocardial biopsies, blunt force, toxins)²⁵

Risk factors

Risk factors of TR include:

• Left-sided heart failure: leading to elevated right-sided pressures and dilatation of the tricuspid valve annulus
• Infective endocarditis
• Carcinoid heart disease
• Congenital heart diseases

Clinical features

TR is associated with a pansystolic murmur, heard loudest over the tricuspid region.

Patients with TR present with features caused by systemic venous congestion and reduced cardiac output, including:

• Fatigue
• Dyspnoea
• Palpitations
• Arrhythmia (atrial flutter or fibrillation may be present)
• Exercise intolerance
• Peripheral oedema
• Abdominal distension (due to ascites)

Investigations

Investigations for TR may include:

• Echocardiography: to confirm diagnosis, determine the severity of regurgitation, and visualise the morphology of the ventricle, valve and annulus
• ECG: often normal, may show atrial flutter or fibrillation
• Chest X-ray: may show an enlarged cardiac silhouette
• FBC: may show anaemia and thrombocytopenia due to liver and renal failure
• LFTs: can cause advanced liver disease due to chronic congestion

Management

Patients with TR should be conservatively and medically managed for comorbidities and underlying pathologies. This may include:

• Fluid and sodium restriction
• Treatment of congestive heart failure
• Blood pressure and glycaemic control
• Exercise

Definitive treatment is surgical valve repair or replacement, which is recommended for patients with severe TR and severe symptomatic TR without significant right ventricular dysfunction.

Complications

Complications of TR include:

• Arrhythmia (atrial flutter, fibrillation)
• Advanced liver disease
• Right-sided heart failure
• Thromboembolic events

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Reviewer

Associate Professor Kavitha Muthiah

Associate Professor at the University of New South Wales and Staff Specialist in Cardiology 

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Editor

Dr Jamie Scriven

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