Atrial fibrillation autosomal dominant
Autosomal dominant atrial fibrillation
Atrial fibrillation, familial
Familial atrial fibrillation is an inherited heart condition that disrupts the heart's rhythm. It is characterized by erratic electrical activity in the heart's upper chambers (the atria), causing an irregular response in the heart's lower chambers (the ventricles). This causes a fast and irregular heartbeat (arrhythmia). The condition may go unnoticed or may cause stroke or sudden death in some cases.
The complications of this disease may occur at any age, some affected people never have associated health problems.
Signs and symptoms may include:
- Chest pain
- Shortness of breath, or fainting
- Affected people also have an increased risk of stroke and sudden death
- Rapid heartbeat
- Irregular heartbeat
- Fluttering sensation in chest
Familial atrial fibrillation may be caused by changes (mutations) in any of various genes, some of which have not been identified. It is most often inherited in an autosomal dominantmanner, but autosomal recessive inheritance has been reported.
Mutations in the KCNQ1 gene cause familial atrial fibrillation. A small percentage of all cases of familial atrial fibrillation are associated with changes in the KCNE2, KCNJ2, and KCNQ1 genes. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions) of potassium into and out of cells. In heart (cardiac) muscle, the ion channels produced from the KCNE2, KCNJ2, and KCNQ1 genes play critical roles in maintaining the heart's normal rhythm. Mutations in these genes have been identified in only a few families worldwide. These mutations increase the activity of the channels, which changes the flow of potassium ions between cells. This disruption in ion transport alters the way the heart beats, increasing the risk of syncope, stroke, and sudden death.
If untreated, this abnormal heart rhythm can lead to dizziness, chest pain, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, or fainting (syncope). Atrial fibrillation also increases the risk of stroke and sudden dea
There is no specific treatment recommendations to familial atrial fibrillation, but there is information available about treatment for atrial fibrillation in general.
Treatment for atrial fibrillation depends on the frequency and severity of symptoms and may involve medications, medical procedures, and lifestyle changes. People who don't have symptoms or related heart problems may not need treatment. The main goals of treatment include:
- Preventing blot clots and lowering risk of stroke. This may involve blood-thinning medications such as warfarin, dabigatran, heparin, and aspirin.
- Controlling the rate of contractions of the ventricles (rate control). This may involve medications to restore the heart rate to a normal level, such as beta blockers, calcium channel blockers, and digitalis.
- Restoring a normal heart rhythm (rhythm control). This is typically for people who don't do well with rate control treatment, or for people who recently began having symptoms. Rhythm control may involve medications or procedures and is usually begun in a hospital for monitoring. Procedures may include cardioversion, catheter ablation, or maze surgery.
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