Familial atrial fibrillation

Familial atrial fibrillation
Familial atrial fibrillation has an autosomal dominant pattern of inheritance.
SpecialtyMedical genetics, cardiology

Familial atrial fibrillation is an autosomal dominant heart condition that causes disruptions in the heart's normal rhythm.[1][2] This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular.

Signs and symptoms

The clinical presentation of this condition is as follows:[3]

Cause

It is associated with multiple genes:

Type OMIM Gene Locus
ATFB1 608583  ? 10q22-q24
ATFB2 608988  ? 6q
ATFB3 607554 KCNQ1 11
ATFB4 611493 KCNE2 21
ATFB5 611494  ? 4q25
ATFB6 612201 NPPA 1p36-p35
ATFB7 612240 KCNA5 12p13
ATFB8 613055  ? 16q22

Mutations in the KCNQ1 gene cause familial atrial fibrillation. The KCNE2 and KCNJ2 genes are associated with 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 potassium ions into and out of cells. In heart 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.

Familial atrial fibrillation caused by mutation of MYL4 a) Affected members with AF b) Electrocardiogram of atrial fibrillation c) Electrocardiogram of normal sinus rhythm, low amplitude P-waves arrow

Most cases of atrial fibrillation are not caused by mutations in a single gene. This condition is often related to structural abnormalities of the heart or underlying heart disease. Additional risk factors for atrial fibrillation include high blood pressure (hypertension), diabetes mellitus, a previous stroke, or an accumulation of fatty deposits and scar-like tissue in the lining of the arteries (atherosclerosis). Although most cases of atrial fibrillation are not known to run in families, studies suggest that they may arise partly from genetic risk factors. Researchers are working to determine which genetic changes may influence the risk of atrial fibrillation.

Familial atrial fibrillation appears to be inherited in an autosomal dominant pattern, which means the defective gene is located on an autosome, and only one copy of the defective gene - inherited from one parent - is sufficient to cause the disorder.

Diagnosis

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. Complications of familial atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder. Atrial fibrillation is the most common type of sustained abnormal heart rhythm (arrhythmia), affecting more than 3 million people in the United States. The risk of developing this irregular heart rhythm increases with age. The incidence of the familial form of atrial fibrillation is unknown; however, recent studies suggest that up to 30 percent of all people with atrial fibrillation may have a history of the condition in their family.

Treatment

The management for this condition is a similar antithrombotic treatment approach as the usual AF affected individual[4]

References

  1. Reference, Genetics Home. "Familial atrial fibrillation". Genetics Home Reference. Archived from the original on 16 August 2019. Retrieved 29 September 2019.
  2. "Familial atrial fibrillation | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 20 January 2022. Retrieved 29 September 2019.
  3. "Familial atrial fibrillation | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 18 March 2021. Retrieved 19 January 2022.
  4. Fauchier, Laurent; Bisson, Arnaud; Clementy, Nicolas. "Prognosis in Familial Atrial Fibrillation". Journal of the American Heart Association. 5 (11): e004905. doi:10.1161/JAHA.116.004905. Archived from the original on 20 January 2022. Retrieved 20 January 2022.
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