Ebsteins disease

Ebstein's disease Description, Causes and Risk Factors: Congenital downward displacement of the tricuspid valve into the right ventricle. Alternative Names: Ebstein anomaly, Ebstein malformation. ICD-9-CM: 746.2. Ebstein's anomaly also called as Ebstein's malformation. It is a heart defect in which the tricuspid valve is abnormally formed and placed lower than normal in the right ventricle. The tricuspid valve normally has three “flaps” or leaflets. In Ebstein's anomaly, one or two of the three leaflets are stuck to the wall of the heart and do not move normally. The valve is lower than normal in the right ventricle. Often there is also a hole (atrial septal defect) in the wall between the heart's two upper chambers. Because the tricuspid valve is malformed in Ebstein's anomaly, it often doesn't work properly and may leak. If the valve leaks, some of the blood pumped by the right ventricle goes backwards through the valve with each heartbeat. This may result in significant enlargement of the right atrium. In more extreme cases the size of the right ventricle is too small to allow for enough blood to go to the lungs. Types: Type A: This is a mild form of the disease in which valvular dysplasia is discrete, the leaflet displacement is mild and consequently the right ventricular volume and functionality are barely affected. Tricuspid regurgitation is usually trivial, if not present. Type B: In this form, leaflet dysplasia and caudal displacement are moderate and the atrialized portion of the right ventricle is larger. Tricuspid regurgitation is mild-to-moderate. Type C: The atrialized portion of the right ventricle is large, the anterior cervical leaflet is redundant, but has limited motion. Type D: The right ventricle is almost completely atrialized; hence the cavitary volume is confined to the outlet portion. The anterior leaflet is immobile. Symptoms:Ebstein's If the leakage of the tricuspid valve is moderate or severe, symptoms including exercise intolerance and swelling of the abdomen and legs may develop. Heart rhythm problems may also occur. 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 blue coloring (cyanosis), heart failure, heart block, or dangerous heart rhythms. People with Ebstein's anomaly may have a rapid heart rhythm called supraventricular tachycardia (SVT). An episode of SVT may cause palpitations. (You feel your heart racing.) Sometimes this is associated with fainting, dizziness, lightheadedness or chest discomfort. If you have these symptoms, contact your doctor. If your symptoms persist, seek immediate attention. Recurrent SVT may be prevented with medicines. In many cases, the source of the abnormal heart rhythm may be treated by a catheter procedure called radiofrequency ablation. See the Arrhythmias section for more information. If the valve abnormality is especially severe, you may have decreased stamina, fatigue, cyanosis and sometimes fluid retention. These problems usually develop because the valve has become leakier. If you have these symptoms, contact your cardiologist. The symptoms may respond to medicines such as diuretics, which cause you to lose excess fluid. In some instances surgery (described above) may be recommended. Diagnosis: Tests that can help diagnose this condition include: Magnetic resonance imaging (MRI) of the heart.
  • Chest x-ray.
  • Measurement of the electrical activity of the heart (EKG).
  • Ultrasound of the heart (echocardiogram).
Newborns who have a severe leakage across the tricuspid valve will have very low levels of oxygen in their blood and significant heart swelling. The doctor may hear abnormal heart sounds, such as murmur, when listening to the chest with a stethoscope. Besides getting information from routine exams, the cardiologist may use tests such as electrocardiograms, Holter monitor and echocardiograms. Treatment Options: Treatment depends on the severity of the defect and the specific symptoms. Medical care may include: Medications to help with heart failure.
  • Oxygen and other breathing support.
  • Surgery to correct the valve may be needed for children who continue to worsen or who have more serious complications.
Patients with mild tricuspid valve leakage are unlikely to require surgery at any point. Patients with more moderate or severe leakage may need initial or subsequent surgery. Patients who have undergone pacemaker placement need close follow-up and eventually may need their pacemaker replaced. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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