Ebstein's anomaly is a rare heart
defect in which parts of the tricuspid
valve are abnormal. The tricuspid valve
separates the right lower heart chamber
(right ventricle) from the right upper
heart chamber (right atrium).
It occurs due to abnormal attachments of
posterior and also septal leaflets of triscuspid
valve to the ventricular wall more towards its
apex. This leads to the creation of two
chambers inside the RV:- a proximal atrialised
chamber and distal one which is the real
functional ventricular chamber. This causes the
right atrium to be large and the anatomic right
ventricular to be small in size.
Rare – less than 1% of all CHD.
Women taking lithium during the first
trimester of pregnancy.
A patent foramen ovale or a secondum type of
ASD (in 90%).
Pulmonary stenosis or atresia (20-25%).
Various abnormalities in RBB. About 50% of
individuals with Ebstein anomaly have evidence
of Wolff-Parkinson-White syndrome, secondary
to the atrialised right ventricular tissue.
The tricuspid valve is normally made of
three parts, called leaflets or flaps. The
leaflets open to allow blood to move from the
right atrium (top chamber) to the right
ventricle (bottom chamber) while the heart
relaxes. They close to prevent blood from
moving from the right ventricle to the right
atrium while the heart pumps.
In persons with Ebstein's anomaly, the
leaflets are unusually deep in the right ventricle.
The leaflets are often larger than normal. The
defect usually causes the valve to work poorly,
and blood may go the wrong way back into the
right atrium. The backup of blood flow can lead
to heart swelling and fluid buildup in the lungs
or liver. Sometimes, not enough blood gets out
of the heart into the lungs and the person may
Down ward displacement of the tricuspid
- Right ventricle with two parts
- normal ventricular
- Abnormal tricuspid valve
- Huge Rt atrium
- Tricuspid regurgitation
- Compromised Rt ventricular function
Depending on the severity of TR
Mild cases: Infants:- asymptomatic, grow
normally. Older children c/o exercise intolerance,
palpitation, dyspnea on exertion.
Severe cases: Infants are symptomatic from birth
with cyanosis and respiratory distress.
Tachycardia, tachypnea, dyspnea, feeding
difficulty and they develop CCF.
Cyanosis: It plays a hide and seek game in
this anomaly. In some infants, cyanosis is
present at birth if CCF present and gradually
disappears and improve clinically and remain
almost asymptomatic till adulthood. Cyanosis
reappears in adulthood when the patient
develops CCF. The degree of cyanosis does
not correlate with the symptomatic state.
Failure to grow
Shortness of breath
Very fast heartbeat
Symptoms in older children
Chest x-ray - Box shaped heart. Huge cardiomegaly
E C G - Himalayan P waves, Right BBB pattern
- Superior axis deviation, prolonged PR interval.
Echocardiogram- Abnormal attachment of TV,
trialised chamber & degree of TR.
Magnetic Resonance Imaging (MRI)
A severe leakage can lead to swelling of the heart and
liver (Cardiomegaly & Hepatomegaly),and congestive
Abnormal heart rhythms (arrhythmias), including
tachyarrhythmias and bradyarrhythmias and heart
Progressive LV dysfunction.
Blood clots from the heart to other parts of the body.
Medications to help with heart failure- digoxin ,
Oxygen and other breathing support
Surgery incudes mainly repair of TV,ASD &
sometimes replacement of tricuspid valves.
In general, the earlier symptoms develop,
the more severe the disease.
Some patients may have either no
symptoms or very mild symptoms. Others may
worsen over time, developing cyanosis, heart
failure, heart block, or dangerous heart
There is no known prevention, other than
talking with your doctor before a pregnancy if
you are taking medicines that are thought to
be related to developing this disease. Taking
antibiotics before dental surgery may help
Bernstein D. Ebstein anomaly of the tricuspid
valve. In: Kliegman RM, Behrman RE, Jenson
HB, Stanton BF, eds. Nelson Textbook of
Pediatrics. 19th ed. Philadelphia, Pa: Saunders
Elsevier; 2011:chap 424.7.
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