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{{SI}}
{{Infobox_Disease |
{{WikiDoc Cardiology Network Infobox}}
  Name          = Familial atrial fibrillation |
  Image          = |
  Caption        = |
  DiseasesDB    = 34356 |
  ICD10          = |
  ICD9          = |
  ICDO          = |
  OMIM          = 608583 |
  MedlinePlus    = |
  eMedicineSubj  = |
  eMedicineTopic = |
  MeshID        = |
}}
 
{{Atrial fibrillation}}
{{CMG}}
{{CMG}}
{{EH}}


==Overview==
==Overview==
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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.
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.
==Cause==
[[Image:autodominant.jpg|thumb|right|Familial atrial fibrillation has an autosomal dominant pattern of inheritance.]]
It is associated with multiple genes:
{| class="wikitable"
|-
! Type
! [[OMIM]]
! Gene
! Locus
|-
| ATFB1
| {{OMIM2|608583}}
| ?
| 10q22-q24
|-
| ATFB2
| {{OMIM2|608988}}
| ?
| 6q
|-
| ATFB3
| {{OMIM2|607554}}
| ''[[KCNQ1]]''
| 11
|-
| ATFB4
| {{OMIM2|611493}}
| ''[[KCNE2]]''
| 21
|-
| ATFB5
| {{OMIM2|611494}}
| ?
| 4q25
|-
| ATFB6
| {{OMIM2|612201}}
| ''[[NPPA]]''
| 1p36-p35
|-
| ATFB7
| {{OMIM2|612240}}
| ''[[KCNA5]]''
| 12p13
|-
| ATFB8
| {{OMIM2|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.
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==
==Diagnosis==
Line 28: Line 100:
==Natural History==
==Natural History==
Atrial fibrillation also increases the risk of [[stroke]] and sudden death. 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 also increases the risk of [[stroke]] and sudden death. 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.
==Genetics==
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.
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 one copy of the altered gene in each cell is sufficient to cause the disorder.


==Reference==
==Reference==
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{{Electrocardiography}}
{{Electrocardiography}}
{{Circulatory system pathology}}
{{SIB}}


[[category:genetic disorders]]
[[category:genetic disorders]]

Latest revision as of 02:47, 16 October 2011

Familial atrial fibrillation
OMIM 608583
DiseasesDB 34356

Atrial Fibrillation Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Atrial Fibrillation from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Special Groups

Postoperative AF
Acute Myocardial Infarction
Wolff-Parkinson-White Preexcitation Syndrome
Hypertrophic Cardiomyopathy
Hyperthyroidism
Pulmonary Diseases
Pregnancy
ACS and/or PCI or valve intervention
Heart failure

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

EKG Examples
A-Fib with LBBB

Chest X Ray

Echocardiography

Holter Monitoring and Exercise Stress Testing

Cardiac MRI

Treatment

Rate and Rhythm Control

Cardioversion

Overview
Electrical Cardioversion
Pharmacological Cardioversion

Anticoagulation

Overview
Warfarin
Converting from or to Warfarin
Converting from or to Parenteral Anticoagulants
Dabigatran

Maintenance of Sinus Rhythm

Surgery

Catheter Ablation
AV Nodal Ablation
Surgical Ablation
Cardiac Surgery

Specific Patient Groups

Primary Prevention

Secondary Prevention

Supportive Trial Data

Cost-Effectiveness of Therapy

Case Studies

Case #1

Familial atrial fibrillation On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Familial atrial fibrillation

CDC on Familial atrial fibrillation

Familial atrial fibrillation in the news

Blogs on Familial atrial fibrillation

Directions to Hospitals Treating Familial atrial fibrillation

Risk calculators and risk factors for Familial atrial fibrillation

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Familial atrial fibrillation is an inherited condition that disrupts the heart's normal rhythm. 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.

Epidemiology and Demographics

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.

Cause

Familial atrial fibrillation has an autosomal dominant pattern of inheritance.

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.

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

Symptoms

The symptoms of familial atrial fibrillation include:

Natural History

Atrial fibrillation also increases the risk of stroke and sudden death. 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.

Reference

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