Ebstein's Anomaly

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).

Ebstein's Anomaly

Ebstein’s Anomaly

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.

Incidence

Rare – less than 1% of all CHD.

Risk factors

Women taking lithium during the first trimester of pregnancy. (controversy)

Related abnormalities

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.

Causes

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 appear blue.

Pathophysiology

Down ward displacement of the tricuspid valve

- Right ventricle with two parts - atrialized - normal ventricular

myocardium- Abnormal tricuspid valve- Huge Rt atrium- Tricuspid regurgitation- Compromised Rt ventricular function

Ebstein's Anomaly

Ebstein's AnomalyNormal

Clinical features

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.

CoughFailure to growFatigueRapid breathingShortness of breathVery 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)

Diagnostic Measures

A severe leakage can lead to swelling of the heart and liver (Cardiomegaly & Hepatomegaly),and congestive heart failure.

Abnormal heart rhythms (arrhythmias), including tachyarrhythmias and bradyarrhythmias and heart block.Progressive LV dysfunction.

Blood clots from the heart to other parts of the body.Paradoxical embolism.

Brain abscess

Complications

Medications to help with heart failure- digoxin , diuretics.

Oxygen and other breathing support

PGE1

Surgery incudes mainly repair of TV,ASD & sometimes replacement of tricuspid valves.

Treatment

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 rhythms.

Prognosis

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 prevent endocarditis.

Prevention

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.

Reference

Thank You…

Deepa Merin Kuriakose

Assistant ProfessorGovt. College of

Nursing, Kottayam