Congenital heart defects

A congenital cardiac malformation occurs in about 1% of live births. There is an overall male
predominance, although some individual lesions (e.g. atrial septal defect and persistent ductus
arteriosus) occur more commonly in females.

Fetal circulation
In the developing fetus, oxygenated blood and nutrients are supplied to the fetus via the placenta
and the umbilical vein. Half of that blood is directed to the fetal ductus venosus and carried to
the inferior vena cava (IVC, the other half enters the liver.

Blood moves from the IVC to the right atrium of the heart. In the fetus, there is an opening
between the right and left atrium (the foramen ovale), and most of the blood (which is a mixture
of oxygenated and de-oxygenated blood) flows from the right into the left atrium, bypassing
pulmonary circulation. This blood goes into the left ventricle and is pumped through the aorta
into the fetal body. Some of the blood flows from the aorta through the internal iliac arteries to
the umbilical arteries and re-enters the placenta, where carbon dioxide and other waste products
from the fetus are taken up and enter the woman’s circulation.
Some of the blood from the right atrium does not enter the left atrium, but enters the right
ventricle and is pumped into the pulmonary artery. In the fetus, there is a connection between the
pulmonary artery and the aorta, the ductus arteriosus, which directs most of this blood away from
the lungs. With the first breath after delivery the vascular resistance in the pulmonary arteries
falls and more blood moves from the right atrium to right ventricle and pulmonary arteries and
oxygenated blood travels back to the left atrium through the pulmonary veins. The decrease in
right atrial pressure and relative increase in left atrial pressure results in closure of the foramen
ovale.
The ductus arteriosus usually closes off within one or two days of birth completely separating the
left and right system. The umbilical vein and the ductus venosus closes off within 2–5 days after
birth, leaving behind the ligamentum teres and the ligamentum venosus of the liver, respectively.
The etiology of congenital cardiac disease is often unknown, but recognized associations
include:
Maternal prenatal rubella infection (persistent ductus arteriosus, and pulmonary valvular and
arterial stenosis)
Maternal alcohol misuse (septal defects)
Maternal drug treatment and radiation
Genetic abnormalities (e.g. The familial form of atrial septal defect and congenital heart block)
Chromosomal abnormalities (e.g. septal defects and mitral and tricuspid valve defects are
associated with Down’s syndrome (trisomy 21) or coarctation of the aorta in Turner’s syndrome
(45, XO).

General pathophysiological processes

 Congenital heart defects (CHDs) are caused by the disruption of the normal sequence
of cardiac morphogenesis.
 CHDs may lead to the formation of pathological connections (shunts) between the right
and left heart chambers, allowing blood to flow along the pressure gradient from high
pressure to low pressure. (Normally, blood pressure within the left heart chambers is
higher than within the right chambers; thus, in an abnormal connection between the left
and right chambers, the blood flows from the left chambers to the right chambers)
 The shunts are classified according to the direction of the blood flow as either left-to-
right or right-to-left.
o Left-to-right shunt: oxygenated blood from the lungs is shunted back into
the pulmonary circulation via an atrial septal defect (ASD), ventricular septal
defect (VSD), or patent ductus arteriosus (PDA) → pulmonary
hypertension and right ventricular pressure overload → right-
sided heart hypertrophy (cardiomegaly on x-ray) and heart failure but no cyanosis
(The symptoms only arise some weeks after birth because the pulmonary vascular
resistance is initially high enough to compensate for the effect of the shunt)
o Right-to-left shunt: blood flows from the right to the left heart via a shunt
→ deoxygenated blood entering the systemic circulation → cyanosis
(Normal pressure gradient (from left to right) can be reversed in cases of severely
increased right heart pressure, either due to an increased right heart overload (e.g.,
tetralogy of Fallot, tricuspid atresia) or an abnormal connection of the right heart
structures to the left ones (e.g., transposition of the great vessels).
 Eisenmenger syndrome (can occur at any age, but usually develops during late stages of
CHDs)
o Prolonged pulmonary hypertension due to a left-to-right shunt causes reactive
constriction with permanent remodeling of pulmonary vessels
→ irreversible pulmonary hypertension
o Right ventricle hypertrophies to compensate for pulmonary hypertension → right
ventricular pressure increasing and eventually exceeding left ventricular pressure
→ reversal of blood flow → onset of cyanosis (either at rest or during
exercise), digital clubbing, and polycythemia

Left-to-Right shunts = LateR cyanosis. Right-to-Left shunts = eaRLy cyanosis.

 Classification of congenital heart disease
Acyanotic Cyanotic
With shunts With shunts
Atrial septal defect Fallot’s tetralogy
Ventricular septal defect Transposition of the great vessels
Patent ductus arteriosus Severe Ebstein’s anomaly
Without shunts Without shunts
Coarctation of the aorta Severe pulmonary stenosis

Some symptoms, signs and clinical problems are common in congenital heart disease:
Central cyanosis occurs because of right-to-left shunting of blood or because of complete
mixing of systemic and pulmonary blood flow. In the latter case, e.g. Fallot’s tetralogy, the
abnormality is described as cyanotic congenital heart disease.
Pulmonary hypertension results from large left-to-right shunts. The persistently raised
pulmonary flow leads to the development of increased pulmonary artery vascular resistance and
consequent pulmonary hypertension. This is known as the Eisenmenger’s reaction (or the
Eisenmenger’s complex when due specifically to a ventricular septal defect). The development
of pulmonary hypertension significantly worsens the prognosis.
Clubbing of the fingers occurs in congenital cardiac conditions associated with prolonged
cyanosis.
Paradoxical embolism of thrombus from the systemic veins to the systemic arterial system may
occur when a communication exists between the right and left heart. There is therefore an
increased risk of cerebrovascular emboli and also abscesses (as with endocarditis).
Polycythaemia can develop secondary to chronic hypoxaemia, leading to a hyperviscosity
syndrome and an increased thrombotic risk, e.g. strokes.
Growth retardation is common in children with cyanotic heart disease.
Syncope is common when severe right or left ventricular outflow tract obstruction is present.
Exertional syncope, associated with deepening central cyanosis, may occur in Fallot’s tetralogy.
Exercise increases resistance to pulmonary blood flow but reduces systemic vascular resistance.
Thus, the right-to-left shunt increases and cerebral oxygenation falls.
Squatting is the posture adopted by children with Fallot’s tetralogy. It results in obstruction of
venous return of desaturated blood and an increase in the peripheral systemic vascular resistance.
This leads to a reduced right-to-left shunt and improved cerebral oxygenation.

Presentation

Adolescents and adults with congenital heart disease present with specific common problems
related to the long-standing structural nature of these conditions and any surgical treatment:
Endocarditis (particularly in association with otherwise innocuous lesions such as small VSDs or
bicuspid aortic valve that can give up to 10% lifetime risk)
Progression of valvular lesions (calcification and stenosis of congenitally deformed valves, e.g.
bicuspid aortic valve)
Atrial and ventricular arrhythmias (often quite resistant to treatment)
Sudden cardiac death
Right heart failure (especially when surgical palliation results in the right ventricle providing the
systemic supply)
End-stage heart failure (rarely managed by heart or heart-lung transplantation).

Ventricular septal defect (VSD)

VSD is the most common congenital cardiac malformation (1:500 live births). The
hemodynamic consequences of this are dependent on the shunt size. Left ventricular pressure is
higher than right and blood therefore moves from left to right and pulmonary blood flow
increases. In large defects the large volumes of blood flow through the pulmonary vasculature
leads to pulmonary hypertension and eventual Eisenmenger’s complex when right ventricular
pressure becomes higher than left and as a result blood starts to shunt from right to left leading to
cyanosis.

Small restrictive VSDs (‘Maladie de Roger’) are often found incidentally as patients are
asymptomatic. They are associated with a loud pan-systolic murmur. The majority close
spontaneously by the age of 10 years.

Large (non-restrictive) VSDs result in significant LA and LV dilatation (due to LV volume

overload). Large defects usually present with heart failure symptoms in childhood and eventually
lead to pulmonary hypertension and Eisenmenger’s complex. As pressures equalize the murmur
becomes softer.

Investigations and intervention

A small VSD produces no abnormal X-ray or ECG findings. In larger defects, the chest X-ray
may demonstrate prominent pulmonary arteries owing to increased pulmonary blood flow but
with pulmonary hypertension there may be ‘pruned’ pulmonary arteries. Cardiomegaly occurs
when a moderate or a large VSD is present and the ECG may show both left and right ventricular
hypertrophy. Echocardiography can assess the size and location of the VSD and its
hemodynamic consequences. Interventional options are either surgical patch repair or device
closure if it is an isolated muscular VSD. Patients with a restrictive VSD and patients after
successful closure have an excellent long term outcome.
  Harsh holosystolic murmur over the left lower sternal border
o Becomes more intense with maneuvers that increase left
ventricular afterload (e.g., handgrip) - Due to increased left-to-right shunting
o Typically louder in small defects
 Mid-diastolic murmur over cardiac apex - The left-to-right shunt with an increased
pulmonary blood flow results in an increased flow through the mitral valve.
 Systolic thrill - Loud murmurs and palpable thrills are more common in small VSDs
because of the large pressure difference between the left and right ventricles. Thrills are
uncommon in large VSDs.
 Loud pulmonic S2 (if pulmonary hypertension develops)

Atrial septal defect ASD

This condition is often first diagnosed in adulthood and represents one-third of congenital heart
disease. It is two to three times more common in women than in men. There are three main types
of ASD:
  Sinus venosus defects – located in the superior part of the septum near the SVC
(superior sinus venosus defect) or the inferior part of the septum near the IVC (inferior
sinus venosus defect) entry point.
  Ostium secundum defects (75%) – located in the mid-septum (fossa ovalis). 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.

  Ostium primum (atrioventricular septal) defects (15%) – located in the lower part of
atrial septum.
  Systolic ejection murmur over the second left ICS sternal border
 Widely split second heart sound (S2) over the second left ICS, which is fixed (does not
change with respiration )

The right ventricular volume overload results in prolonged emptying of the right
ventricle and delayed closure of the pulmonary valve. As a result, the closure of the
pulmonary and aortic valves is no longer synchronized (split second heart sound).
The left-to-right shunt in ASD causes an RV volume overload, which causes a delay in
the closure of the pulmonary valve. Since the right and left sides of the heart
communicate, the pressure difference that normally exists during respiration evens out;
therefore, the duration of the split does not change with inspiration or expiration.

 Soft mid-diastolic murmur over the lower left sternal border - Due to increased flow
across the tricuspid valve

Adult patients with an unrepaired ASD with significant left to right shunt develop right heart
overload and dilatation. These patients develop symptoms of dyspnoea and exercise intolerance
and may develop atrial arrhythmias from right atrial dilatation. There is also increased
pulmonary vascular flow, but significant pulmonary hypertension develops in <5% of patients
and it is thought that these patients have additional factors including genetic predisposition to
pulmonary hypertension. The physical signs of ASD reflect the volume overloading of the right
ventricle. A right ventricular heave can usually be felt.

Diagnostics
  Echocardiography (confirmatory test): interatrial communication, best visualized in the
apical four-chamber and subcostal views
 ECG: signs of RV hypertrophy (vertical or right axis deviation, P pulmonale, PR
prolongation, complete or incomplete right bundle branch block)
 Chest x-ray
o Enlarged right atrium, ventricle, and pulmonary arch
o Enhanced pulmonary vasculature

Treatment

 In children with ASD, spontaneous closure may occur.

 Patch repair
o Indicated in symptomatic children with a significant left-to-right shunt
o Surgical or via percutaneous transcatheter procedure

Shtese

When the heart is first developing, a tissue called the septum primum between the left and right
atria grows downward, slowly creating two separate chambers by closing this gap, or ostium
primum, which means “first opening.” The septum primum then fuses with the endocardial
cushion and closes the gap completely. Meanwhile, a hole appears in the upper area, called the
ostium secundum, or “second opening.” Now, we also have the septum secundum which grows
downward, just to the right of the septum primum, and covers the ostium secundum like a
curtain, leaving a small opening called the foramen ovale, thus essentially creating a makeshift
valve that allows blood to go from right atrium to left atrium, but not the other way.

The developing newborn gets oxygenated blood from the placenta, which goes from the
umbilical vein over to the right atrium, which is different because after development, only
deoxygenated blood goes to the right atrium, and then gets sent to the lungs to pick up some
oxygen. In the developing fetus, though, it’s already oxygenated, so instead of going to the right
ventricle and to the lungs and back to the left atrium, it just bypasses the right ventricle and lungs
through the foramen ovale and goes into the left atrium. The oxygenated blood then goes to the
left ventricle to be pumped to the body.

At birth, the septum secundum and septum primum slap shut, and then fuse and close off this
foramen ovale so that we can rely on our own lungs for oxygen.

An atrial septal defect, or ASD, describes a condition where the septum between the right and
left atrium doesn’t close up all the way and remains open even after birth. Most About 90% of
ASD cases are due to the ostium secundum which can happen when the secundum septum
doesn’t grow enough during development. This actually accounts for about 10-15% of all
congenital heart defects and is the most common congenital heart defect in adults.

Fewer ASD cases are due to the ostium primum, where the “first opening” doesn’t make it all the
way down, again leaving an opening between right and left atria. This primum type of congenital
defect is found in around 25% of patients with Down syndrome. In general, atrial septal defects
are also commonly associated with fetal alcohol syndrome.

Patent foramen ovale PFO

 Failure of the atrial septum primum to fuse with the septum secundum
following birth → persistence of foramen ovale → mild left-to-right shunt
 A shunt reversal may be induced by certain maneuvers that increase right atrial
pressure (e.g., Valsalva maneuver, coughing).

Affected individuals are usually asymptomatic until complications occur (paradoxical embolism,
stroke, systemic embolisms)

Patent ductus arteriosus (PDA)

This is a persistent communication between the proximal left pulmonary artery and the
descending aorta resulting in a continuous left to right shunt. Normally the ductus arteriosus
closes within a few hours of birth in response to decreased pulmonary resistance however in
some cases (particularly premature babies and in cases with maternal rubella) the ductus persists.
Indometacin (a prostaglandin inhibitor) is given to stimulate duct closure. If the shunt is
moderate to large it will result in left heart volume overload and in some cases pulmonary
hypertension and Eisenmenger’s syndrome. The characteristic clinical signs are a bounding pulse
and continuous ‘machinery murmur’ however as pulmonary hypertension develops in a large
PDA the murmur becomes softer.

During fetal development, the ductus arteriosus is kept open by high levels of a vasodilator
prostaglandin E2, which is made by the placenta and the ductus arteriosus. At birth, a bunch of
things change. First, oxygen levels in the blood go up dramatically and the lungs become the
main source of oxygenated blood. Soon after birth, the foramen ovale closes and prostaglandin
E2 levels fall, causing the ductus arteriosus to close off. The lungs also start to release a small
peptide called bradykinin, which constricts the smooth muscle wall of the ductus arteriosus and
sort of helps the process along. Within the first day, the ductus arteriosus usually starts clamping
shut; within three weeks, it’s completely closed off and turned into the ligamentum arteriosum. If
the ductus arteriosus doesn’t close, then the baby is left with a patent ductus arteriosus.

Investigations and intervention

With a large shunt, the aorta and pulmonary arterial system may be prominent on chest X-ray.
The ECG may demonstrate left atrial abnormality and left ventricular hypertrophy. The
development of Eisenmenger reaction will produce right ventricular hypertrophy.
Echocardiography may show a dilated left atrium and left ventricle with right heart changes
occurring late. Colour Doppler imaging of the proximal pulmonary arteries may demonstrate the
shunt. Indications for intervention (usually with percutaneous devices) include left ventricular
dilatation; mild–moderate pulmonary arterial hypertension (not Eisenmenger).

 Heaving, laterally displaced apical impulse - A sign of left ventricular volume overload
 Bounding peripheral pulses, wide pulse pressure -
 Machinery murmur: loud continuous murmur heard best in the left infraclavicular
region and loudest at S2
Occurs because of the constant left-to-right shunt, which follows the pressure gradient
from the aorta (high pressure) to the pulmonary artery (low pressure)
As pulmonary hypertension develops (Eisenmenger syndrome), the characteristic
machinery murmur decreases and ultimately disappears. This phenomenon is due to shunt
reversal, which develops as soon as the pulmonary pressure exceeds the aortic pressure,
thus decreasing blood flow through the PDA.

 Elective ductal closure

o Indications for closure
  Symptomatic PDAs
 Left heart enlargement or mild to moderate pulmonary hypertension
o Techniques
 Pharmacological closure (in premature infants): infusion
of indomethacin or ibuprofen
 Inhibiting the prostaglandin synthesis
with indomethacin or ibuprofen induces the closure of the ductus
in preterm infants.
 Contraindicated in active intraventricular hemorrhage
 In infants > 5 kg: percutaneous catheter occlusion or surgical ligation
 Administer prostaglandin (PGE1) to keep the PDA open if needed for survival (e.g.,
in transposition of the great vessels, tetralogy of Fallot, hypoplastic left heart).

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 (distal to the origin of 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
Turner’s 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 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 the aorta

(1) Stenosis distal to the left subclavian artery results in hypertension (↑ BP) in the upper
extremities and the head, and hypotension (↓ BP) in the lower extremities and abdomen.

(2) If coarctation involves the origin of the left subclavian artery, BP in the right arm and head
will be higher than in the left arm, lower extremities, and abdomen.

Claudication - A pain of vascular origin that is reliably induced by exercise and relieved or
reduced by rest. The pain is typically cramping in nature and is most commonly described in the
lower extremities. Claudication is caused by tissue ischemia secondary to arterial insufficiency.

Investigations and intervention

Chest X-ray may 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.
In neonates coarctation is treated with surgical repair. In older children and adults, balloon
dilatation and stenting is an option although many still prefer surgery. Balloon dilatation is
preferred for recoarctation.
Rib notching in coarctation of the aorta

Chest radiograph (PA view)

There is mild cardiomegaly with a cardiothoracic ratio >50%, and bilateral rib notching is visible
on the inferior border of the ribs (white arrows).

Cyanotic congenital heart defects

Pathophysiologically, cyanotic heart defects are characterized by a right-to-left shunt, which

leads to deoxygenated blood entering the systemic circulation. The resulting hypoxemia
manifests clinically as cyanosis, which may occur as acute, life-threatening episodes. Other
symptoms include failure to thrive, characteristic heart murmurs, and symptoms of heart failure.
Diagnosis is confirmed through visualization of the defect on echocardiography.

Tetralogy of Fallot

Consist of:
A large malaligned VSD
An overriding aorta
Right ventricular outflow tract obstruction
Right ventricular hypertrophy
Clinical findings

 Infants with mild TOF may be asymptomatic on initial examination, however, they can
develop symptoms of heart failure after 4–6 weeks of life as the disease progresses.
 Mild to severe cyanosis, which depends on the severity of the RVOTO
o Mild obstruction → more pronounced left-to-right shunt via VSD → little or
mild cyanosis
o Severe obstruction → more pronounced right-to-left
shunt via VSD → severe cyanosis
 Tet spells: intermittent hypercyanotic, hypoxic episodes with a peak incidence at 2–4
months after birth
o Associated with psychological and physical stress (e.g., crying, feeding,
defecation)
o Caused by either an increase in pulmonary vascular resistance (PVR) or a
decrease in systemic vascular resistance (SVR) → intermittent worsening
of RVOTO and ↑ right-to-left shunting
o Spells occur suddenly and are potentially lethal.
 Untreated children tend to squat: squatting → ↑ SVR → ↓ right-to-left shunt → ↑
blood flow to pulmonary circulation → ↓ hypoxemia → relief of symptoms
 Cardiac examination findings
o Harsh systolic ejection murmur at the left upper sternal border - Caused by
RVOTO, not the associated VSD
o Single S2
o Possible RV heave and systolic thrill
 CHF symptoms

Rtg i zemres: forme te klompes (maja e zemres e zgjeruar per shkak te hipertrofise se VD)
In patients with TOF, the auscultated murmur is determined by the amount of blood flow across
the RVOTO. Therefore, during tet spells, the murmur may disappear.

RVOTO - Right ventricular outflow obstruction

In babies with severe pulmonary stenosis systemic-to-pulmonary artery shunts (i.e. Blalock–
Taussig – subclavian to pulmonary artery shunt) may be used initially to increase pulmonary
blood flow in severe cases of pulmonary stenosis.

The majority of adults with tetralogy of Fallot will have undergone complete repair which
involves relief of the right ventricular outflow tract obstruction and closure of the VSD. The
overall survival of those who have had operative repair is excellent. DiGeorge’s syndrome is
found in 15% of those with tetralogy of Fallot.

Transposition of the great arteries

Complete transposition of the great arteries (TGA)

In complete transposition of the great arteries (TGA), the right atrium connects to the
morphological right ventricle, which gives rise to the aorta and the left atrium connects to the
morphological left ventricle, which gives rise to the pulmonary artery. This is incompatible with
life as blood circulates in two parallel circuits, i.e. deoxygenated blood from the systemic veins
passes into the right heart and then via the aorta back to the systemic circulation. Oxygenated
blood from the pulmonary veins passes through the left heart and back to the lungs. Babies with
transposition are usually born cyanosed – if there is a significant ASD, VSD or PDA allowing a
shunt (i.e. mixing of oxygenated and deoxygenated blood) the diagnosis might be delayed. In
those without a shunt an atrial septostomy is performed.
A Rashkind’s balloon is used to dilate the foramen ovale and is used to maintain saturations at
50–80% until a definitive procedure can be performed. The arterial switch procedure is now
performed in the first 2 weeks of life – the aorta is reconnected to the left ventricle and the
pulmonary artery is connected to the right ventricle.
The coronary arteries are re-implanted. Currently, the
majority of adult patients with transposition of the
great arteries will have had an ‘atrial switch’
operation. The right ventricle remains the systemic
ventricle in this situation. Although most of these
patients do well for many years, life expectancy is
clearly limited by eventual failure of the systemic
right ventricle.

Ebstein anomaly

Definition: malformed tricuspid valve leaflets that

are displaced into the right ventricle with subsequent
tricuspid valve regurgitation and right heart
enlargement (known as RV “atrialization”)
Interatrial communication (e.g., PFO, ASD): seen in ∼ 90% of patients [57]
Other cardiac defects associated with Ebstein anomaly:

Conduction disorders (e.g., Wolff-Parkinson-White syndrome, supraventricular tachycardia)

In the Ebstein anomaly, the tricuspid valve is displaced into the lumen of the right ventricle,
resulting in atrialization of the right ventricle. The remaining ventricle is small and
hypocontractile. Because tricuspid valve regurgitation is also usually present, there is retrograde
flow in the right atrium, which is dilated by the volume overload, in addition to antegrade
pulmonary blood flow. Blood flows through the patent foramen ovale or (commonly associated)
atrial septal defect from the right atrium to the left atrium (right-to-left shunt) and then via the
left ventricle into the circulation, resulting in pronounced cyanosis. The pulmonary circulation
system may also be perfused through blood from the aorta (via the ductus arteriosus).

Clinical findings
 The clinical presentation of Ebstein anomaly varies according to the severity of the
abnormality.
o Mild apical displacement → asymptomatic presentation throughout adulthood
o Moderate
tricuspid
leaflet displace
ment
→ cyanosis or h
eart
failure in infanc
y or childhood
o Severe displace
ment → in
utero heart failur
e
→ nonimmune
hydrops fetalis → death
 Neonates and children
o Cyanosis
o Severe cardiomegaly and heart failure
o Respiratory distress
 Adolescents and adults
o Arrhythmias e.g., Wolff-Parkinson-White syndrome
o Exertional dyspnea and fatigue
o Palpitations and sudden cardiac death
 Cardiac examination findings
o Loud S1 - Due to the loud tricuspid component of S1
o Widely split S1 and S2 - Due to right bundle branch block
o Holosystolic murmur at the left sternal border - Due to tricuspid regurgitation
Severe pulmonary stenosis