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Fabry Disease

The Heart

Several types of heart abnormalities can be found in people with Fabry disease. Sometimes, these abnormalities are mild and do not cause major health problems. However, these abnormalities may lead to congestive heart failure, heart attack (cardiac arrest or myocardial infarction), or abnormalities in the heart beat (arrhythmias). Serious heart problems may need to be treated with a pacemaker, surgery, and/or medication.

Mitral valve prolapse (MVP)
The mitral valve, which connects two of the heart's chambers, opens and closes to ensure that blood flows in the proper direction through the heart. In MVP, the mitral valve doesn't close correctly, and some blood may leak backward instead of being pushed forward. MVP generally does not cause health problems. Some people with the condition are advised to take antibiotics before undergoing surgery or dental procedures, to prevent infection of the valve.

Left ventricular hypertrophy
The left ventricle is one of the four chambers of the heart. When the wall of this chamber is thicker than normal, it is said to be hypertrophic. This thickening causes weakening of the left ventricle and interferes with the heart's ability to pump blood.

Conduction abnormalities
This group of problems is caused by abnormalities in the way the heart beats. In some cases, an abnormal heartbeat may cause medical problems, including a heart attack.

Coronary artery disease
GL-3 accumulation in the blood vessels of the heart may narrow the vessels, so that less blood is able to flow through. If blood flow is severely impaired, a heart attack may result.

Monitoring
The above conditions, and other heart problems, may be diagnosed and monitored with electrocardiography or EKG (a test that measures the electrical current of the heart) and echocardiography (a test that uses ultrasound to take a picture of the heart).

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