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Valvular heart disease and congenital

heart disease in a grown up children


by Tanveer Hj Iqbal

Content
Valvular heart disease
Mitral stenosis
Mitral regurgitation
Mitral valve prolapse
Aortic stenosis
Aortic regurgitation
Tricuspid stenosis
Tricuspid regurgitation
Pulmonary stenosis
Pulmonary regurgitation

Content
Congenital heart disease
Ventricular septal defect
Atrial septal defect
Patent ductus arteriosus
Coarctation of aorta
Cyanotic congenital heart disease
Fallots tetralogy
Transposition of great arteries (TGA)

Mitral stenosis :Causes


Almost all mitral stenosis is due to rheumatic heart disease.
At least 50% of sufferers have a history of rheumatic fever or
chorea.
The single most common valve lesion due to rheumatic fever is pure
mitral stenosis (50%).
The mitral valve is affected in over 90% of those with rheumatic
valvular heart disease.
Rheumatic mitral stenosis is much more common in women.
The pathological process results after some years in valve thickening,
cusp fusion, calcium deposition, a narrowed (stenotic) valve orifice
and progressive immobility of the valve cusps.

Mitral stenosis :cause


Other causes include:
Lutembachers syndrome, which is the combination of acquired mitral
stenosis and an atrial septal defect
a rare form of congenital mitral stenosis
in the elderly, a syndrome similar to mitral stenosis, which develops because
of calcification and fibrosis of the valve, valve ring and subvalvular apparatus
(chordae tendineae)
carcinoid tumours metastasizing to the lung, or primary bronchial carcinoid.

Mitral stenosis : Pathophysiology


When the normal valve orifice area of 5 cm2 is reduced to approximately 1cm2, severe
mitral stenosis is present.
In order that sufficient cardiac output will be maintained, the left atrial pressure increases
and left atrial hypertrophy and dilatation occur.
Consequently, pulmonary venous, pulmonary arterial and right heart pressures also
increase.
The increase in pulmonary capillary pressure is followed by the development of
pulmonary oedema.
This is partially prevented by alveolar and capillary thickening and pulmonary arterial
vasoconstriction (reactive pulmonary hypertension).
Pulmonary hypertension leads to right ventricular hypertrophy, dilatation and failure.
Right ventricular dilatation results in tricuspid regurgitation.
Mitral stenosis is frequently associated with complications

Mitral stenosis : Symptom


Usually there are no symptoms until the valve orifice is moderately stenosed (i.e.
has an area of 2 cm2).
In Europe this does not usually occur until several decades after the first attack of
rheumatic fever, but children of 1020 years of age in the Middle or Far East may
have severe calcific mitral stenosis.
Because of pulmonary venous hypertension and recurrent bronchitis, progressively
severe dyspnoea develops.
A cough productive of blood-tinged, frothy sputum is quite common, and
occasionally frank haemoptysis may occur.
The development of pulmonary hypertension eventually leads to right heart failure
and its symptoms of weakness, fatigue and abdominal or lower limb swelling.

Mitral stenosis : Symptoms


The large left atrium favours atrial fibrillation, giving rise to symptoms such as
palpitations.
Atrial fibrillation may result in systemic emboli, most commonly to the cerebral
vessels resulting in neurological sequelae, but mesenteric, renal and peripheral
emboli are also seen.
Clinical pulmonary embolism as a result of mitral stenosis associated with atrial
fibrillation is less commonly seen, but it is likely that subclinical pulmonary emboli
occur.

Mitral stenosis : Signs


Face
Severe mitral stenosis with
pulmonary hypertension is
associated with the so-called
mitral facies or malar flush.
This is a bilateral, cyanotic or
dusky pink discoloration over the
upper cheeks that is due to
arteriovenous anastomoses and
vascular stasis.

Mitral stenosis : Signs


Pulse
Mitral stenosis may be associated with a small-volume pulse which is usually regular early
on in the disease process when most patients are in sinus rhythm.
However, as the severity of the disease progresses, many patients develop atrial fibrillation
resulting in an irregularly irregular pulse.
The development of atrial fibrillation in these patients often causes a dramatic clinical
deterioration.
Jugular veins
If right heart failure develops, there is obvious distension of the jugular veins.
If pulmonary hypertension or tricuspid stenosis is present, the a wave will be prominent
provided that atrial fibrillation has not supervened.

Mitral stenosis : Signs


Palpation
There is a tapping impulse felt parasternally on the left
side.
This is the result of a palpable first heart sound combined
with left ventricular backward displacement produced by
an enlarging right ventricle.
A sustained parasternal impulse due to right ventricular
hypertrophy may also be felt.

Mitral stenosis : Signs


Auscultation
a loud first heart sound if the mitral valve is pliable, but it will not occur in
calcific mitral stenosis.
As the valve suddenly opens with the force of the increased left atrial
pressure, an opening snap will be heard.
This is followed by a low-pitched rumbling mid-diastolic murmur best
heard with the bell of the stethoscope held lightly at the apex with the
patient lying on the left side.
If the patient is in sinus rhythm, the murmur becomes louder at the end of
diastole as a result of atrial contraction (pre-systolic accentuation).

Mitral stenosis : Signs


Severity of mitral stenosis : Clinical criteria
The presence of pulmonary hypertension implies that mitral stenosis is severe.
Pulmonary hypertension is recognized by a right ventricular heave, a loud pulmonary component of
the second heart sound, eventually with signs of right-sided heart failure, such as oedema and
hepatomegaly.
Pulmonary hypertension results in pulmonary valvular regurgitation that causes an early diastolic
murmur in the pulmonary area known as a Graham Steell murmur.
The closeness of the opening snap to the second heart sound is proportional to the severity of mitral
stenosis.
The length of the mid-diastolic murmur is proportional to the severity.
As the valve cusps become immobile, the loud first heart sound softens and the opening snap disappears.
When pulmonary hypertension occurs, the pulmonary component of the second sound is increased in
intensity and the mitral diastolic murmur may become quieter because of the reduction of cardiac output.

Mitral stenosis: Investigations


Chest X-ray
usually shows a generally small heart
with an enlarged left atrium
Pulmonary venous hypertension is
usually also present.
Late in the course of the disease a
calcified mitral valve may be seen on
a penetrated or lateral view.
The signs of pulmonary oedema or
pulmonary hypertension may also
be apparent when the disease is
severe.

Enlarged left atrium : curved arrow as a double contour


at right heart border
Enlarged left atrial appendage: straight arrow

Calcified mitral valve

What is Kerley B lines?


Kerley B lines are short parallel lines at the
lung periphery.
These lines represent distended interlobular
septa, which are usually less than 1 cm in
length and parallel to one another at right
angles to the pleura.
They are located peripherally in contact
with the pleura, but are generally absent
along fissural surfaces.
They may be seen in any zone but are most
frequently observed at the lung bases at the
costophrenic angles on the PA radiograph,
and in the substernal region on lateral
radiographs.

Mitral stenosis: Investigations


Electrocardiogram
In sinus rhythm the ECG shows
a bifid P wave owing to delayed
left atrial activation
However, atrial fibrillation is
frequently present.
As the disease progresses, the
ECG features of right
ventricular hypertrophy (right
axis deviation and perhaps tall R
waves in lead V1) may develop.

Mitral stenosis : Imaging


Echocardiogram (2-D)
allows assessment of the mitral valve apparatus and calculation of mitral valve
area, thus providing a useful guide in determining whether balloon valvotomy
or valve replacement is the treatment of choice in patients symptomatic on
medical therapy.
determines left atrial and right ventricular size and function.
to measure mitral valve area and provides an estimate of pulmonary artery
pressure through measurement of the degree of tricuspid regurgitation using
continuous wave (CW) Doppler
In most cases, echocardiography alone is sufficient to judge the severity of
mitral stenosis such that decisions regarding surgery can be made.

Mitral stenosis : Imaging


Echocardiogram (Transoesophageal echocardiography-TOE)
performed to detect the presence of left atrial thrombus

Cardiac magnetic resonance (CMR)


This accurately shows mitral valve anatomy.

Cardiac catheterization
now seldom required and is only used if coexisting cardiac problems (e.g. mitral regurgitation or
coronary artery disease) are suspected.
The typical findings in mitral stenosis are a diastolic pressure that is higher in the left atrium than in
the left ventricle.
This gradient of pressure is usually proportional to the degree of the stenosis.

Mitral stenosis : Treatment


Mild mitral stenosis may need no treatment other than prompt therapy of
attacks of bronchitis.
Infective endocarditis in pure mitral stenosis is uncommon.
Early symptoms of mitral stenosis such as mild dyspnoea can usually be
treated with low doses of diuretics.
The onset of atrial fibrillation requires treatment with digoxin and
anticoagulation to prevent atrial thrombus and systemic embolization.
If pulmonary hypertension develops or the symptoms of pulmonary
congestion persist despite therapy, surgical relief of the mitral stenosis is
advised.

Mitral stenosis : Treatment


There are four operative measures.
Trans-septal balloon valvotomy
Closed valvotomy
Open valvotomy
Mitral valve replacement

Mitral stenosis : Treatment


Trans-septal balloon valvotomy
A catheter is introduced into the right atrium via the femoral vein.
The interatrial septum is then punctured and the catheter advanced into the left atrium and across the
mitral valve.
A balloon is passed over the catheter to lie across the valve, and then inflated briefly to split the valve
commissures.
The procedure is performed under local anaesthesia in the cardiac catheter laboratory.
As with other valvotomy techniques, significant regurgitation may result, necessitating valve replacement.
This procedure is ideal for patients with pliable valves in whom there is little involvement of the
subvalvular apparatus and in whom there is minimal mitral regurgitation.
The procedure cannot be performed when there is heavy calcification or more than mild mitral
regurgitation.
The presence of thrombus in the left atrium is a contraindication to balloon valvotomy; therefore, transoesophageal echocardiography must be performed prior to this technique in order that left atrial thrombus
can be excluded.

Mitral stenosis : Treatment


Closed valvotomy
This operation is advised for patients with mobile, non- calcified and
non-regurgitant mitral valves.
The fused cusps are forced apart by a dilator introduced through the
apex of the left ventricle and guided into position by the surgeons
finger inserted via the left atrial appendage.
Cardiopulmonary bypass is not needed for this operation.
Closed valvotomy may produce a good result for 10 years or more.
The valve cusps often re-fuse and eventually another operation may be
necessary.

Mitral stenosis : Treatment


Open valvotomy
This operation is often preferred to closed valvotomy.
The cusps are carefully dissected apart under direct vision.
Cardiopulmonary bypass is required.
Open dissection reduces the likelihood of causing traumatic
mitral regurgitation.

Mitral stenosis : Treatment


Mitral valve replacement
mitral regurgitation is also present
there is a badly diseased or badly calcified stenotic valve that cannot be
reopened without producing significant regurgitation
there is moderate or severe mitral stenosis and thrombus in the left
atrium despite anticoagulation.
Artificial valves may work successfully for more than 20 years.
Anticoagulants are generally necessary to prevent the formation of
thrombus, which might obstruct the valve or embolize.

Mitral regurgitation: Causes


There are many causes of mitral valve regurgitation but rheumatic heart disease
(50%) and a prolapsing mitral valve are the most common. Other causes include:
aortic valve disease
acute rheumatic fever
myocarditis
dilated cardiomyopathy
hypertensive heart disease

Mitral regurgitation: Causes


infective endocarditis mitral regurgitation may result from destruction of
the mitral valve leaflets
hypertrophic cardiomyopathy left ventricular contraction is disorganized

rheumatic autoimmune disease systemic lupus erythematosus (SLE)

collagen abnormalities Marfans syndrome and Ehlers Danlos syndrome

degeneration of the valve cusps or mitral annular calcification

rupture of the chordae tendineae (due to myocardial infarction, infective


endocarditis or trauma) results in acute and very severe mitral regurgitation

drugs, e.g. centrally acting appetite suppressants, e.g. fenfluramine; dopamine


agonists, e.g. cabergoline.

Mitral regurgitation : Pathophysiology


Regurgitation into the left atrium produces left atrial dilatation but little
increase in left atrial pressure if the regurgitation is long-standing, as the
regurgitant flow is accommodated by the large left atrium.
With acute mitral regurgitation the normal compliance of the left atrium
does not allow much dilatation and the left atrial pressure rises.
Thus, in acute mitral regurgitation the left atrial v wave is greatly increased
and pulmonary venous pressure rises to produce pulmonary oedema.
Since a proportion of the stroke volume is regurgitated, the stroke volume
increases to maintain the forward cardiac output and the left ventricle
therefore enlarges.

Mitral regurgitation: Symptoms


Mitral regurgitation can be present for many years and the cardiac dimensions greatly
increased before any symptoms occur.
The increased stroke volume is sensed as a palpitation.
Dyspnoea and orthopnoea develop owing to pulmonary venous hypertension occurring as
a direct result of the mitral regurgitation and secondarily to left ventricular failure.
Fatigue and lethargy develop because of the reduced cardiac output.
In the late stages of the disease the symptoms of right heart failure also occur and
eventually lead to congestive cardiac failure.
Cardiac cachexia may develop.
Thromboembolism is less common than in mitral stenosis, but subacute infective
endocarditis is much more common.

Mitral regurgitation : Signs


The physical signs of uncomplicated mitral regurgitation are:
laterally displaced (forceful) diffuse apex beat and a systolic thrill (if severe)
soft first heart sound, owing to the incomplete apposition of the valve cusps
and their partial closure by the time ventricular systole begins
pansystolic murmur, owing to the occurrence of regurgitation throughout
the whole of systole, being loudest at the apex but radiating widely over the
precordium and into the axilla
prominent third heart sound, owing to the sudden rush of blood back into
the dilated left ventricle in early diastole (sometimes a short mid-diastolic
flow murmur may follow the third heart sound).

Mitral regurgitation : Signs


The signs related to atrial fibrillation, pulmonary hypertension,
and left and right heart failure develop later in the disease.
The onset of atrial fibrillation has a much less dramatic effect on
symptoms than in mitral stenosis.

Mitral regurgitation : Investigations


Chest X-ray
The chest X-ray may show left atrial and left ventricular enlargement.
There is an increase in the CTR, and valve calcification is seen.

Electrocardiogram
left atrial delay (bifid P waves) and
left ventricular hypertrophy as manifested by tall R waves in the left lateral leads (e.g. leads I and
V6) and deep S waves in the right-sided precordial leads, (e.g. leads V1 and V2).
(Note that SV1 plus RV5 or RV6 > 35 mm indicates left ventricular hypertrophy.)
Left ventricular hypertrophy occurs in about 50% of patients with mitral regurgitation.
Atrial fibrillation may be present.

Mitral regurgitation : Investigations


Echocardiogram
The echocardiogram shows a dilated left atrium and left ventricle.
There may be specific features of chordal or papillary muscle rupture.
CW Doppler can determine the velocity of the regurgitant jet.
The echocardiogram is not as definitive in mitral regurgitation as in mitral stenosis.
However, useful information regarding the severity of the condition can be obtained
indirectly by observing the dynamics of ventricular function.
Transoesophageal echocardiography (TOE) helps to identify structural valve abnormalities
before surgery.
Intraoperative TOE can also aid assessment of the efficacy of valve repair.

Mitral regurgitation : Investigations


Cardiac catheterization
This demonstrates a prominent left atrial systolic pressure wave,
and when contrast is injected into the left ventricle it is seen
regurgitating into an enlarged left atrium during systole.
CMR has largely replaced catheterization.

Mitral regurgitation : Treatment


Mild mitral regurgitation in the absence of symptoms can be managed
conservatively by following the patient with serial echocardiograms.
Any evidence of progressive cardiac enlargement generally warrants early surgical
intervention by either mitral valve repair or replacement.
The advantages of surgical intervention are diminished in more advanced disease.
In patients who are not considered appropriate for surgical intervention, or in
whom surgery will be considered at a later date, management usually involves
treatment with ACE inhibitors, diuretics and possibly anticoagulants.
Sudden torrential mitral regurgitation, as seen with chordal or papillary muscle
rupture or infective endocarditis, necessitates emergency mitral valve replacement.

Prolapsing (billowing) mitral valve


This is also known as Barlows syndrome or floppy mitral valve.
It is due to excessively large mitral valve leaflets, an enlarged mitral annulus,
abnormally long chordae or disordered papillary muscle contraction.
Histology may demonstrate myxomatous degeneration of the mitral valve leaflets.
It is more commonly seen in young women than in men or older women and it has a
familial incidence.
Its cause is unknown but it is associated with Marfans syndrome, thyrotoxicosis,
rheumatic or ischaemic heart disease.
It also occurs in association with atrial septal defect and as part of hypertrophic
cardiomyopathy.
Mild mitral valve prolapse is so common that it should be regarded as a normal
variant.

Prolapsed mitral valve: Pathophysiology


During ventricular systole, a mitral valve leaflet (most
commonly the posterior leaflet) prolapses into the left
atrium.
This may result in abnormal ventricular contraction,
papillary muscle strain and some mitral regurgitation.
Usually the syndrome is not haemodynamically serious.
Thromboembolism occurs.

Prolapsed mitral valve: Symptoms


Atypical chest pain is the most common symptom.
Usually the pain is left submammary and stabbing in quality.
Sometimes it is substernal, aching and severe.
Rarely, it is similar to typical angina pectoris.
Palpitations may be experienced because of the abnormal ventricular
contraction or because of the atrial and ventricular arrhythmias that are
commonly associated with mitral valve prolapse.
Sudden cardiac death due to fatal ventricular arrhythmias is a very rare
but recognized complication.

Prolapsed mitral valve: Signs


The most common sign is a mid-systolic click, which
is produced by the sudden prolapse of the valve and
the tensing of the chordae tendineae that occurs
during systole.
This may be followed by a late systolic murmur owing
to some regurgitation.
With more regurgitation, the murmur becomes
pansystolic mitral regurgitation.

Prolapsed mitral valve: Investigations


The diagnosis is confirmed on two-dimensional
echocardiography, which typically shows posterior
movement of one or both mitral valve cusps into
the left atrium during systole.

Prolapsed mitral valve: Treatment


Usually, beta-blockade is effective for the treatment of the atypical chest pain and
palpitations.
Sometimes more specific antiarrhythmic drug treatment is necessary.
When a prolapsing mitral valve is associated with significant mitral regurgitation
and atrial fibrillation, anticoagulation is advised to prevent thromboembolism.
Mitral valve prolapse associated with severe mitral regurgitation has a risk of
sudden cardiac death.
Mitral valve repair is indicated in all such cases.
Very occasionally, mitral valve replacement rather than repair may be necessary for
severe regurgitation when there is severe prolapse of both leaflets.

Aortic Stenosis: Causes


Congenital aortic valve stenosis
develops progressively because of turbulent blood flow through a congenitally abnormal (usually
bicuspid) aortic valve.
Most congenitally abnormal aortic valves occur in men and will calcify later in life.
Rheumatic fever
results in progressive fusion, thickening and calcification of a previously normal three-cusped
aortic valve.
in rheumatic heart disease the aortic valve is affected in about 40% of cases and there is usually
associated mitral valve disease.
Calcific valvular disease
is the commonest cause of aortic stenosis and mainly occurs in the elderly.
This is an inflammatory process involving macrophages and T lymphocytes with initially
thickening of the subendothelium with adjacent fibrosis.
The lesions contain lipoproteins which calcify, increasing leaflet stiffness and reducing systolic
opening.

Aortic Stenosis : Differentials


Valvular aortic stenosis should be distinguished from other causes of
obstruction to left ventricular emptying , which include:
supravalvular obstruction a congenital fibrous diaphragm above the aortic
valve
often associated with mental retardation and hypercalcaemia (Williams
syndrome)
hypertrophic cardiomyopathy septal muscle hypertrophy obstructing left
ventricular outflow
subvalvular aortic stenosis a congenital condition in which a fibrous ridge or
diaphragm is situated immediately below the aortic valve.

Aortic stenosis: Pathophysiology


Obstructed left ventricular emptying leads to increased left ventricular pressure and
compensatory left ventricular hypertrophy.
In turn, this results in relative ischaemia of the left ventricular myocardium, and
consequent angina, arrhythmias and left ventricular failure.
The obstruction to left ventricular emptying is relatively more severe on exercise.
Normally, exercise causes a many-fold increase in cardiac output, but when there is
severe narrowing of the aortic valve orifice the cardiac output can hardly increase.
Thus, the blood pressure falls, coronary ischaemia worsens, the myocardium fails and
cardiac arrhythmias develop.
Left ventricular systolic function is typically preserved in patients with aortic stenosis (cf.
aortic regurgitation).

Aortic stenosis: Symptoms


There are usually no symptoms until aortic stenosis is moderately
severe (when the aortic orifice is reduced to one-third of its normal
size).
At this stage, exercise-induced syncope, angina and dyspnoea develop.
When symptoms occur, the prognosis is poor on average, death
occurs within 23 years if there has been no surgical intervention.

Aortic stenosis: Signs


Pulse
The carotid pulse is of small volume and is slow-rising or plateau in nature

Precordial palpation
The apex beat is not usually displaced because hypertrophy (as opposed to dilatation) does
not produce noticeable cardiomegaly.
However, the pulsation is sustained and obvious.
A double impulse is sometimes felt because the fourth heart sound or atrial contraction
(kick) may be palpable.
A systolic thrill may be felt in the aortic area.

Aortic stenosis: Signs


Auscultation
The most obvious auscultatory finding in aortic stenosis is an ejection systolic murmur that is
usually diamond-shaped (crescendodecrescendo).
The murmur is usually longer when the disease is more severe, as a longer ejection time is
needed.
The murmur is usually rough in quality and best heard in the aortic area.
It radiates into the carotid arteries and also the precordium.
The intensity of the murmur is not a good guide to the severity of the condition because it is
lessened by a reduced cardiac output.
In severe cases, the murmur may be inaudible.

Aortic stenosis: Signs


Auscultation : Other findings
systolic ejection click, unless the valve has become immobile and calcified

soft or inaudible aortic second heart sound when the aortic valve becomes
immobile
reversed splitting of the second heart sound (splitting on expiration)
prominent fourth heart sound, which is caused by atrial contraction, is
heard unless coexisting mitral stenosis prevents this.

Aortic stenosis: Investigations


Chest X-ray
reveals a relatively small heart with a prominent, dilated, ascending aorta.
This occurs because turbulent blood flow above the stenosed aortic valve produces so-called post-stenotic
dilatation.
The aortic valve may be calcified.
The CTR increases when heart failure occurs.
Electrocardiogram
left ventricular hypertrophy and left atrial delay.
A left ventricular strain pattern due to pressure over- load (depressed ST segments and T wave inversion in
leads orientated towards the left ventricle, i.e. leads I, AVL, V5 and V6) is common when the disease is severe.
Usually, sinus rhythm is present, but ventricular arrhythmias may be recorded.

Aortic stenosis: Investigations


Echocardiogram
readily demonstrates the thickened, calcified and immobile aortic valve cusps.
Left ventricular hypertrophy may also be seen.
The gradient across the valve can be estimated by CW Doppler, provided the left ventricular
function is reasonable
Cardiac catheterization
used to document the systolic pressure difference (gradient) between the aorta and the left
ventricle and assess left ventricular function.
This is rarely necessary since all of this information can be gained non-invasively with
echocardiography and CMR.
Coronary angiography is necessary before recommending surgery.

Aortic stenosis: Treatment


In patients with aortic stenosis, symptoms are a good index of severity and all symptomatic patients
should have aortic valve replacement.
Asymptomatic patients should be under regular review for assessment of symptoms and
echocardiography.
Provided that the valve is not severely deformed or heavily calcified, critical aortic stenosis in
childhood or adolescence can be treated by valvotomy (performed under direct vision by the surgeon
or by balloon dilatation using X-ray visualization).
This produces temporary relief from the obstruction.
Aortic valve replacement will usually be needed a few years later.
Balloon dilatation (valvuloplasty) has been tried in adults, especially in the elderly, as an alternative to
surgery.
Generally results are poor and such treatment is reserved for patients unfit for surgery or as a bridge
to surgery (as systolic function will often improve).

Aortic stenosis: Treatment


Percutaneous valve replacement (TAVI)
A novel treatment for patients unsuitable for surgical aortic
valve replacement is transcatheter implantation with a
balloon expandable stent valve.
In a recent study valve implantation was successful (86%) with
a procedural mortality of 2% and 30-day mortality of 12%.
Further larger and randomized studies with long-term followup are required.

Aortic regurgitation: Causes


The most common causes of aortic regurgitation are rheumatic
fever and infective endocarditis complicating a previously
damaged valve.
This can be a congenitally abnormal valve (e.g. a bicuspid valve)
or one damaged by rheumatic fever.
There are numerous other causes and associations.
The majority of patients with aortic regurgitation are men
(75%), but rheumatic aortic regurgitation occurs more
commonly in women.

Aortic regurgitation: Pathophysiology


Aortic regurgitation is reflux of blood from the aorta through the aortic
valve into the left ventricle during diastole.
If net cardiac output is to be maintained, the total volume of blood
pumped into the aorta must increase, and consequently the left
ventricular size must enlarge.
Because of the aortic run- off during diastole, diastolic blood pressure
falls and coronary perfusion is decreased.
In addition, the larger left ventricular size is mechanically less efficient
so that the demand for oxygen is greater and cardiac ischaemia
develops.

Aortic regurgitation: Symptoms


In aortic regurgitation, significant symptoms occur late and do not
develop until left ventricular failure occurs.
As with mitral regurgitation, a common symptom is pounding of the
heart because of the increased left ventricular size and its vigorous
pulsation.
Angina pectoris is a frequent complaint.
Varying grades of dyspnoea occur depending on the extent of left
ventricular dilatation and dysfunction.
Arrhythmias are relatively uncommon.

Aortic regurgitation: Signs


The signs of aortic regurgitation are many and are due to the hyperdynamic circulation, reflux of
blood into the left ventricle and the increased left ventricular size.
The pulse is bounding or collapsing.
The following signs, which are rare, also indicate a hyperdynamic circulation:
Quinckes sign capillary pulsation in the nail beds
De Mussets sign head nodding with each heart beat
Duroziezs sign a to-and-fro murmur heard when the femoral artery is auscultated with
pressure applied distally (if found, it is a sign of severe aortic regurgitation)
pistol shot femorals a sharp bang heard on auscultation over the femoral arteries in time
with each heart beat.

Aortic regurgitation: Signs


The apex beat is displaced laterally and downwards and is
forceful in quality.
On auscultation, there is a high-pitched early diastolic
murmur best heard at the left sternal edge in the fourth
intercostal space with the patient leaning forward and the
breath held in expiration.
Because of the volume overload there is commonly an
ejection systolic flow murmur.
The regurgitant jet can impinge on the anterior mitral valve
cusp, causing a mid-diastolic murmur (Austin Flint).

Aortic regurgitation: Investigation


Chest X-ray
The chest X-ray features are those of left ventricular enlargement and possibly of dilatation of
the ascending aorta.
The ascending aortic wall may be calcified in syphilis, and the aortic valve may be calcified if
valvular disease is responsible for the regurgitation.

Electrocardiogram
The ECG appearances are those of left ventricular hypertrophy due to volume overload tall R
waves and deeply inverted T waves in the left-sided chest leads, and deep S waves in the rightsided leads.
Normally, sinus rhythm is present.

Aortic regurgitation: Investigation


Echocardiogram
The echocardiogram demonstrates vigorous cardiac contraction and a dilated left
ventricle.
The aortic root may also be enlarged.
Diastolic fluttering of the mitral leaflets or septum occurs in severe aortic regurgitation
(producing the Austin Flint murmur).
The regurgitant jet can be detected by CW Doppler.
Cardiac catheterization
During cardiac catheterization, injection of contrast medium into the aorta
(aortography) will outline aortic valvular abnormalities and allow assessment of the
degree of regurgitation.

Aortic regurgitation: Treatment


The underlying cause of aortic regurgitation (e.g. syphilitic aortitis or infective endocarditis)
may require specific treatment.
The treatment of aortic regurgitation usually requires aortic valve replacement but the timing
of surgery is critical.
Because symptoms do not develop until the myocardium fails and because the myocardium
does not recover fully after surgery, operation is performed before significant symptoms occur.
The timing of the operation is best determined according to haemodynamic,
echocardiographic or angiographic criteria.
Both mechanical prostheses and tissue valves are used.
Tissue valves are preferred in the elderly and when anticoagulants must be avoided, but are
contraindicated in children and young adults because of the rapid calcification and
degeneration of the valves.

Tricuspid stenosis : Causes


This uncommon valve lesion, which is seen much more often in women
than in men, is usually due to rheumatic heart disease and is frequently
associated with mitral and/or aortic valve disease.
Tricuspid stenosis is also seen in the carcinoid syndrome.

Tricuspid stenosis
Pathophysiology
Tricuspid valve stenosis results in a reduced cardiac output, which is restored towards normal
when the right atrial pressure increases.
The resulting systemic venous congestion produces hepatomegaly, ascites and dependent oedema.

Symptoms
Usually, patients with tricuspid stenosis complain of symptoms due to associated left-sided
rheumatic valve lesions.
The abdominal pain (due to hepatomegaly) and swelling (due to ascites), and peripheral oedema
that occur are relatively severe when compared with the degree of dyspnoea.

Tricuspid stenosis
Signs
If the patient remains in sinus rhythm, which is unusual, there is a prominent
jugular venous a wave.
This pre-systolic pulsation may also be felt over the liver.
There is usually a rumbling mid-diastolic murmur, which is heard best at the
lower left sternal edge and is louder on inspiration.
It may be missed because of the murmur of coexisting mitral stenosis.
A tricuspid opening snap may occasionally be heard.
Hepatomegaly, abdominal ascites and dependent oedema may be present.

Tricuspid stenosis : Investigations


Chest X-ray
On the chest X-ray there may be a prominent right atrial bulge.
Electrocardiogram
The enlarged right atrium may be manifested on the ECG by peaked, tall P waves (> 3 mm)
in lead II.
Echocardiogram
The echocardiogram may show a thickened and immobile tricuspid valve, but this is not so
clearly seen as an abnormal mitral valve.
Cardiac catheterization
This demonstrates a diastolic pressure gradient between the right atrium and the right
ventricle. Contrast injection will demonstrate a large right atrium.

Tricuspid stenosis: Treatment


Medical management consists of diuretic therapy
and salt restriction.
Tricuspid valvotomy is occasionally possible, but
tricuspid valve replacement is often necessary.
Other valves usually also need replacement
because tricuspid valve stenosis is rarely an
isolated lesion

Tricuspid regurgitation: Causes


Functional tricuspid regurgitation may occur whenever the right ventricle dilates, e.g. in
cor pulmonale, myocardial infarction or pulmonary hypertension.
Organic tricuspid regurgitation may occur with
rheumatic heart disease,
infective endocarditis,
carcinoid syndrome,
Ebsteins anomaly (a congenitally malpositioned tricuspid valve) and
other congenital abnormalities of the atrioventricular valves.

Tricuspid regurgitation
Symptoms and signs
The valvular regurgitation gives rise to high right atrial and systemic venous
pressure.
Patients may complain of the symptoms of right heart failure.
Physical signs include a large jugular venous cv wave and a palpable liver that
pulsates in systole.
Usually a right ventricular impulse may be felt at the left sternal edge, and
there is a blowing pan systolic murmur, best heard on inspiration at the lower
left sternal edge.
Atrial fibrillation is common.

Tricuspid regurgitation: Treatment


Functional tricuspid regurgitation usually disappears with medical
management.
Severe organic tricuspid regurgitation may require operative repair of
the tricuspid valve (annuloplasty or plication).
Very occasionally, tricuspid valve replacement may be necessary.
In drug addicts with infective endocarditis of the tricuspid valve,
surgical removal of the valve is recommended to eradicate the
infection.
This is usually well tolerated in the short term.

Pulmonary stenosis: Causes


This is usually a congenital lesion, but it may rarely result from
rheumatic fever or from the carcinoid syndrome.
Congenital pulmonary stenosis may be associated with an intact
ventricular septum or with a ventricular septal defect (Fallots
tetralogy).
Pulmonary stenosis may be valvular, subvalvular or
supravalvular.
Multiple congenital pulmonary arterial stenoses are usually due
to infection with rubella during pregnancy.

Pulmonary stenosis: Symptoms


and signs
The obstruction to right ventricular emptying results in right ventricular hypertrophy which in turn
leads to right atrial hypertrophy.
Severe pulmonary obstruction may be incompatible with life, but lesser degrees of obstruction give
rise to fatigue, syncope and the symptoms of right heart failure.
Mild pulmonary stenosis may be asymptomatic.
The physical signs are characterized by a harsh mid- systolic ejection murmur, best heard on
inspiration, to the left of the sternum in the second intercostal space.
This murmur is often associated with a thrill.
The pulmonary closure sound is usually delayed and soft.
There may be a pulmonary ejection sound if the obstruction is valvular.
A right ventricular fourth sound and a prominent jugular venous a wave are present when the stenosis
is moderately severe.
A right ventricular heave (sustained impulse) may be felt.

Pulmonary stenosis: Signs


The physical signs are characterized by a harsh mid- systolic ejection
murmur, best heard on inspiration, to the left of the sternum in the second
intercostal space.
This murmur is often associated with a thrill.
The pulmonary closure sound is usually delayed and soft.
There may be a pulmonary ejection sound if the obstruction is valvular.
A right ventricular fourth sound and a prominent jugular venous a wave are
present when the stenosis is moderately severe.
A right ventricular heave (sustained impulse) may be felt.

Pulmonary stenosis: Investigations


Chest X-ray
The chest X-ray usually shows a prominent pulmonary artery owing to post-stenotic dilatation.

Electrocardiogram
The ECG demonstrates both right atrial and right ventricular hypertrophy, although it may sometimes
be normal even in severe pulmonary stenosis.

Echocardiogram
Doppler is the investigation of choice.

Cardiac catheterization
The passage of a catheter through the right heart allows the level and degree of the stenosis to be
established by measuring the systolic pressure gradient.

Pulmonary stenosis : Treatment


Treatment of severe pulmonary stenosis requires
pulmonary valvotomy (balloon valvotomy or direct
surgery).

Pulmonary regurgitation
This is the most common acquired lesion of the pulmonary
valve.
It results from dilatation of the pulmonary valve ring, which
occurs with pulmonary hypertension.
It is characterized by a decrescendo diastolic murmur, beginning
with the pulmonary component of the second sound, that is
difficult to distinguish from the murmur of aortic regurgitation.
Pulmonary regurgitation usually causes no symptoms and
treatment is rarely necessary.

Ventricular septal defect (VSD)


VSD is the most common congenital cardiac malformation (1 in 500 live
births).
It occurs as an isolated abnormality or in association with other anomalies.
Left ventricular pressure is higher than right ventricular pressure; blood
therefore moves from left to right and pulmonary blood flow increases.
When pulmonary blood flow is very large, progressive obliteration of the
pulmonary vasculature eventually causes the pulmonary arterial pressure to
equal the systemic pressure (Eisenmengers complex).
Consequently, the shunt is reduced or reversed (becoming right-to-left) and
central cyanosis develops.

VSD : Clinical features


Small VSDs (maladie de Roger) are asymptomatic and usually close
spontaneously, with 90% no longer patent by 10 years of age.
Unfortunately there is a future risk of the development of aortic
regurgitation or endocarditis even after spontaneous closure.
A moderate VSD produces fatigue and dyspnoea with cardiac
enlargement and a prominent apex beat.
There is often a palpable systolic thrill at the lower left sternal edge.
A loud tearing pansystolic murmur is heard at the same position.
A large VSD eventually causes pulmonary hypertension.

VSD : Investigations
A small VSD produces no abnormal X-ray or ECG findings.

Chest X-ray
prominent pulmonary artery owing to increased pulmonary blood flow in larger defects.
In Eisenmengers complex the radiological signs of pulmonary hypertension (i.e. pruned pulmonary arteries) can be seen.
Cardiomegaly occurs when a moderate or a large VSD is present.

ECG
shows features of both left and right ventricular hypertrophy.

2-D echocardiography and CW Doppler


can assess the size and location of the VSD, and its haemodynamic consequences.

CMR
is increasingly being used.

VSD :Treatment
Moderate and large VSDs should be surgically
repaired before the development of severe
pulmonary hypertension.

Atrial septal defect (ASD) : Clinical Features


This condition is often first diagnosed in adults and represents one-third of all adult congenital heart disease.
It is two to three times more common in women than in men.
There are two main types of ASD, ostium secundum (75%) and ostium primum (15%).
The common form is the ostium secundum defect, which involves the fossa ovalis in the atrial mid-septum. (This
should not be confused with the patent foramen ovale (PFO), which is a normal variant and not a true septal defect.
PFO is usually asymptomatic but is associated with paradoxical emboli and an increased incidence of embolic
stroke.)
Communication at the level of the atria allows left-to-right shunting of blood.
Because the pulmonary vascular resistance is low and the right ventricle is easily distended (i.e. it is compliant), there
is a considerable increase in right heart output.
Above the age of 30 years there may be an increase in pulmonary vascular resistance, which gives rise to pulmonary
hypertension.
Atrial arrhythmias, particularly atrial fibrillation, are common at this stage.

Atrial septal defect (ASD) : Clinical Features


Most children with ASD are asymptomatic, although they are prone to
pulmonary infection.
Some complain of dyspnoea and weakness.
Palpitations due to atrial arrhythmias are not uncommon.
Right heart failure and atrial fibrillation may develop to become the initial
presentation in adult life.
The physical signs of ASD reflect the volume overloading of the right
ventricle.
A right ventricular heave can usually be felt.

ASD : Investigations

Chest X-ray

reveals a prominent pulmonary artery and pulmonary plethora.


There may be noticeable right ventricular enlargement.

ECG
usually shows some degree of right bundle branch block (because of dilatation of the right ventricle) and right
axis deviation.
Sometimes the ASD is part of a major developmental abnormality involving the ventricular septum and the
mitral and tricuspid valves. In this case there is left axis deviation on the ECG.

Echocardiogram
is usually abnormal if a significant defect is present. Indirect evidence includes right ventricular hypertrophy
and pulmonary arterial dilatation, and abnormal motion of the interventricular septum.
Subcostal views may demonstrate the ASD
Flow disturbance can be assessed by colour Doppler.

CMR can provide additional information.

ASD :Treatment
A significant ASD (i.e. a pulmonary flow that is more than 50% increased when compared with systemic flow)
should be repaired before the age of 10 years or as soon as possible if first diagnosed in adulthood.
There is a dilemma with regard to whether less severe shunts should be closed when diagnosed in adulthood.
Anecdotal evidence suggests that the shunt might be progressive and that low-risk closure would be appropriate.
There is a good result from surgery with ostium secundum ASD unless pulmonary hypertension has developed.
Angiographic closure is now possible with significantly lower risk using a transcatheter clamshell device
A PFO discovered in a patient with an otherwise unexplained thrombotic stroke is now closed in this way to
prevent paradoxical thromboembolism.
In high-risk groups, e.g. deep-sea divers, such closures may be undertaken even though the patients are
asymptomatic.
Uncorrected ASDs do not require antibiotic prophylaxis for endocarditis.
If there is an accompanying valvular lesion, however, prophylaxis may be indicated.

Patent ductus arteriosus (PDA)


The ductus arteriosus connects the pulmonary artery at
its bifurcation to the descending aorta immediately distal
to the subclavian artery.
In fetal life the ductus diverts blood away from the
unexpanded, and hence high-resistance, pulmonary
circulation into the systemic circulation, where the blood
is reoxygenated as it passes through the placenta.
At birth, the high oxygen in the lungs and the reduced
pulmonary vascular resistance trigger closure of the duct.
If the duct is malformed (i.e. it does not contain sufficient
elastic tissue), it will not close.
This is more common in females and is sometimes
associated with maternal rubella.
Premature babies are often born with persistent ducts that
are anatomically normal but are immature in that they
lack the mechanism to close.
Other associations include continual prenatal hypoxaemia
and high-altitude environments.

PDA
Because aortic pressure exceeds pulmonary artery pressure throughout
the cardiac cycle, a persistent duct produces continuous aorta-topulmonary artery shunting.
This leads to an increased pulmonary venous return to the left heart
and an increased left ventricular volume load.
If the shunt is large, this results in severe left heart failure and
pulmonary hypertension.
One-third of individuals with an unrepaired ductus die from heart
failure, pulmonary hypertension or endocarditis by the age of 40; twothirds by the age of 60.

PDA : Clinical features


There are often no symptoms until later in life when
heart failure or infective endocarditis develops.
The characteristic physical sign is a continuous
machinery murmur.
The peripheral pulse is large in volume (bounding)
because of the increased left heart blood flow and the
decompression of the aorta into the pulmonary
artery.

PDA : Investigations
The aorta and pulmonary arterial system are usually prominent on Xray, although a small ductus shows no abnormality.
There is both a left atrial abnormality and left ventricular hypertrophy
on the ECG.
With the development of Eisenmengers reaction, right ventricular
hypertrophy may be seen.
The echocardiogram shows a dilated left atrium and left ventricle.
Right heart changes are apparent in late disease.
CMR can be useful.

PDA : Treatment
Premature infants with a persistent duct are treated
medically with indometacin, which inhibits prostaglandin
production and stimulates duct closure.
In other cases the duct can be ligated surgically or
angiographically with very little risk.
Surgery should be performed as soon as possible and not
later than the age of 5 years.
Closure is inappropriate if pulmonary hypertension is severe.

Coarctation of the aorta


A coarctation of the aorta is a narrowing of the aorta at, or just distal to, the insertion of the ductus
arteriosus, i.e. distal to the left subclavian artery
Rarely it can occur proximal to the left subclavian.
It occurs twice as commonly in men as in women.
It is also associated with Turners syndrome.
In 80% of cases the aortic valve is bicuspid (and potentially stenotic or endocarditic).
Other associations include patent ductus arteriosus, ventricular septal defect, mitral stenosis or
regurgitation and circle of Willis aneurysms.
Severe narrowing of the aorta encourages the formation of a collateral arterial circulation involving
the periscapular and intercostal arteries.
Decreased renal perfusion can lead to the development of systemic hypertension that persists even
after surgical correction.

Coarctation of aorta: Clinical features


Coarctation of the aorta is often asymptomatic for many years.
Headaches and nosebleeds (due to hypertension), and claudication and
cold legs (due to poor blood flow in the lower limbs) may be present.
Physical examination reveals hypertension in the upper limbs, and
weak, delayed (radiofemoral delay) pulses in the legs.
If coarctation is present in the aorta, proximal to the left subclavian
artery, there will be asynchronous radial pulses in right and left arms.
Poor peripheral pulses are seen in severe cases.

Coarctation of aorta : Investigation


Chest X-ray
reveal a dilated aorta indented at the site of the coarctation.
This is manifested by an aorta (seen in the upper right mediastinum) shaped like a figure 3.
In adults, tortuous and dilated collateral intercostal arteries may erode the undersurfaces of
the ribs (rib notching).
ECG
demonstrates left ventricular hypertrophy. Echocardiography sometimes shows the
coarctation and other associated anomalies.
CT and CMR scanning
can accurately demonstrate the coarctation and quantify flow.

Coarctation of aorta : Treatment


Treatment is usually indicated if the pressure gradient across the
coarctation is greater than 30 mmHg.
This involves surgical excision of the coarctation and end-to-end
anastomosis of the aorta.
If the coarctation is extensive, prosthetic vascular grafts may be needed.
When surgery is performed in early childhood, hypertension usually
resolves completely.
However, when the operation is performed on adolescents or adults, the
hypertension persists in 70% because of previous renal damage.

Coarctation of aorta : Treatment


There is also an increased risk of accelerated atherosclerosis and strokes in
these individuals.
Balloon dilatation is used in some centres for either primary disease or postsurgical recurrence, although there is a higher incidence of aneurysm
formation and post-dilatation recurrence.
Surgical correction in childhood gives a good 25-year survival rate of 83%.
If this is delayed until adulthood (2040 years), the 25-year survival rate drops
to 75%.
If coarctation is left uncorrected, however, only 25% of patients are alive at
50, while cardiac failure ensues in two-thirds of surviving patients over 40.

Fallots tetralogy
Most children with cyanotic congenital
heart disease do not survive the
neonatal period.
Fallots is the most common cyanotic
anomaly in those who do survive and
is commonest amongst adults.
Transposition of the great vessels is
more common in the neonatal period
but is more likely to be fatal.
Fallots tetralogy consists of the four
features shown in Figure 13.96.

Fallots tetralogy
The level of the right ventricular outflow obstruction may
be subvalvular, valvular or supravalvular.
The most common obstruction is subvalvular, either alone
(50%) or in combinaion with valvular stenosis (25%).
This combination of lesions leads to a high right
ventricular pressure and right-to-left shunting of blood
through the VSD.
Thus the patient is centrally cyanosed.

Fallots tetralogy: Clinical feature


Children with this condition may present with dyspnoea or fatigue, or with hypoxic episodes on
exertion (Fallots spells) deep cyanosis and possible syncope.
These can even result in seizures, cerebrovascular events or sudden death.
Squatting is common.
Adults tend not to suffer spells but fatigue easily with dyspnoea on exertion.
Erythrocytosis, secondary to chronic hypoxaemia, commonly results in thrombotic strokes.
Endocarditis is common.
A parasternal sustained heave is evident.
Central cyanosis is commonly present from birth, and finger clubbing and polycythaemia are obvious
after about 12 months.
Growth is usually retarded.

Fallots tetralogy: Investigations


Chest X-ray shows a large right ventricle and a small pulmonary artery
(classically described as boot-shaped).
ECG reveals right ventricular hypertrophy, and the echocardiogram demonstrates
discontinuity between the aorta and the anterior wall of the ventricular septum.
CMR is used
Cardiac catheterization is performed to evaluate the size and degree of the right
ventricular outflow obstruction.

Fallots tetralogy : Treatment


Complete surgical correction of this combination of lesions is possible even in infancy.
As adults, however, these individuals are at increased risk of right ventricular failure and
ventricular arrhythmias due to the trauma from past corrective surgery.
Less damaging procedures are used presently, the long-term results of which are
unknown as yet.
Occasionally a palliative procedure an anastomosis between a subclavian artery and a
pulmonary artery (Blalock shunt) is performed on very young infants or the
premature, in order to increase blood supply to the lungs.
Without intervention, 66% survive to 1 year, while only 11% survive to 20 years.
Fallots spells may need treatment with beta-blockade or, when severe, with
diamorphine to relax the right ventricular outflow obstruction.

Transposition of the great arteries (TGA)


TGA occurs in 23/10 000 live births with a male/female ratio of 2:1.
In nearly 50% of cases it is associated with a VSD.
In TGA the right ventricle is connected to the systemic circulation
(aorta) and the left ventricle to the pulmonary circulation (pulmonary
artery)
The neonate with TGA is cyanosed as the blood circulates in two
parallel circuits, i.e. deoxygenated blood from the systemic veins passes
to the systemic circulation and oxygenated blood from the pulmonary
veins passes back to the lungs.

TGA: Clinical Features


TGA will present within a few hours of birth as a cyanotic
(blue) baby, as maternal/placental oxygenation is removed.
Ninety per cent of patients present within a few days.
However, in patients with a significant shunt (ASD and
VSD or a large PDA) diagnosis may be delayed.
Clinical features include dyspnoea, tachycardia and cool
clammy skin.

TGA : Investigations
2-D Echocardiography can identify the
anatomical connections between the great vessels
and the cardiac chambers.
It can also detect an associated ASD, VSD or
PDA.

TGA: Treatment
The initial management in a cyanotic neonate with TGA is an atrial
septostomy (Rashkind procedure).
Balloon dilatation of the foramen ovale is performed to allow mixing
of atrial blood that maintains oxygen saturation of 5080% prior to
more definitive surgery.
Prostaglandins (E1) may be given initially to maintain a PDA.
The arterial switch operation is now performed in the first two weeks
of life the aorta is reconnected to the left ventricle; the pulmonary
artery is connected to the right ventricle; the coronary arteries are
connected to the aorta and any associated defects are repaired.