Familial (monogenic) atrial fibrillation is a Mendelian, early-onset form of atrial fibrillation occurring in structurally normal hearts and segregating in families, distinct from the common acquired/complex atrial fibrillation that arises on a background of hypertension, structural heart disease, and aging. The best-characterized subtypes are autosomal dominant gain-of-function potassium-channel defects (KCNQ1, KCNE2, KCNJ2) that shorten the atrial action potential duration and effective refractory period, creating a re-entry-prone atrial substrate; additional families carry variants in the atrial gap-junction protein connexin 40 (GJA5), the atrial natriuretic peptide precursor (NPPA), and the cardiac sodium channel (SCN5A). The shared final common mechanism is an electrically remodeled atrium predisposed to the initiation and maintenance of fibrillation. This entry models the inherited channelopathy spectrum and is distinct from the general Atrial Fibrillation entry (MONDO:0004981); the monogenic loci are lumped here as has_subtypes rather than as separate gene-level files.
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name: Familial Atrial Fibrillation
creation_date: '2026-06-25T00:00:00Z'
description: >-
Familial (monogenic) atrial fibrillation is a Mendelian, early-onset form of
atrial fibrillation occurring in structurally normal hearts and segregating in
families, distinct from the common acquired/complex atrial fibrillation that
arises on a background of hypertension, structural heart disease, and aging.
The best-characterized subtypes are autosomal dominant gain-of-function
potassium-channel defects (KCNQ1, KCNE2, KCNJ2) that shorten the atrial action
potential duration and effective refractory period, creating a re-entry-prone
atrial substrate; additional families carry variants in the atrial
gap-junction protein connexin 40 (GJA5), the atrial natriuretic peptide
precursor (NPPA), and the cardiac sodium channel (SCN5A). The shared final
common mechanism is an electrically remodeled atrium predisposed to the
initiation and maintenance of fibrillation. This entry models the inherited
channelopathy spectrum and is distinct from the general Atrial Fibrillation
entry (MONDO:0004981); the monogenic loci are lumped here as has_subtypes
rather than as separate gene-level files.
synonyms:
- familial AF
- monogenic atrial fibrillation
- hereditary atrial fibrillation
- ATFB
category: Genetic
disease_term:
preferred_term: familial atrial fibrillation
term:
id: MONDO:0018054
label: familial atrial fibrillation
parents:
- Cardiac Arrhythmia
- Channelopathy
inheritance:
- name: Autosomal dominant
inheritance_term:
preferred_term: Autosomal dominant inheritance
term:
id: HP:0000006
label: Autosomal dominant inheritance
has_subtypes:
- name: KCNQ1-related
display_name: KCNQ1 gain-of-function familial AF
subtype_term:
preferred_term: KCNQ1 familial atrial fibrillation
term:
id: MONDO:0011857
label: atrial fibrillation, familial, 3
description: >-
Autosomal dominant familial AF caused by gain-of-function KCNQ1 (KvLQT1)
variants (e.g. S140G) that augment the slow delayed-rectifier IKs current and
shorten atrial action potential duration and refractoriness.
- name: KCNE2-related
display_name: KCNE2 gain-of-function familial AF
subtype_term:
preferred_term: KCNE2 familial atrial fibrillation
term:
id: MONDO:0012677
label: atrial fibrillation, familial, 4
description: >-
Familial AF associated with gain-of-function variants in the potassium-channel
beta subunit KCNE2, which modulates KCNQ1 and other cardiac potassium currents.
- name: KCNJ2-related
display_name: KCNJ2 (Kir2.1) gain-of-function familial AF
subtype_term:
preferred_term: KCNJ2 familial atrial fibrillation
term:
id: MONDO:0013513
label: atrial fibrillation, familial, 9
description: >-
Autosomal dominant familial AF caused by gain-of-function KCNJ2 variants
(e.g. V93I) that increase the inward-rectifier IK1 current.
- name: GJA5-related
display_name: GJA5 (connexin 40) familial AF
subtype_term:
preferred_term: GJA5 familial atrial fibrillation
term:
id: MONDO:0013544
label: atrial fibrillation, familial, 11
description: >-
AF associated with germline or atrial-tissue-restricted somatic missense
variants in GJA5, encoding the atrial gap-junction protein connexin 40, which
impair gap-junction assembly and intercellular electrical coupling.
- name: NPPA-related
display_name: NPPA (atrial natriuretic peptide) familial AF
subtype_term:
preferred_term: NPPA familial atrial fibrillation
term:
id: MONDO:0012816
label: atrial fibrillation, familial, 6
description: >-
Familial AF linked to variants in NPPA, encoding the atrial natriuretic
peptide precursor.
- name: SCN5A-related
display_name: SCN5A familial AF
subtype_term:
preferred_term: SCN5A familial atrial fibrillation
term:
id: MONDO:0013530
label: atrial fibrillation, familial, 10
description: >-
Familial AF associated with variants in the cardiac sodium channel SCN5A,
overlapping the broader SCN5A-related arrhythmia spectrum.
- name: KCNA5-related
display_name: KCNA5 (Kv1.5) loss-of-function familial AF
subtype_term:
preferred_term: KCNA5 familial atrial fibrillation
term:
id: MONDO:0012828
label: atrial fibrillation, familial, 7
description: >-
Familial AF caused by loss-of-function variants in KCNA5, encoding the
voltage-gated potassium channel Kv1.5 (ultra-rapid delayed rectifier current,
IKur), which is predominantly expressed in atrial cardiomyocytes. Loss of IKur
prolongs atrial action potential duration and may predispose to early
afterdepolarizations and AF.
- name: ABCC9-related
display_name: ABCC9 (SUR2A) familial AF
subtype_term:
preferred_term: ABCC9 familial atrial fibrillation
term:
id: MONDO:0013545
label: atrial fibrillation, familial, 12
description: >-
Familial AF associated with variants in ABCC9, which encodes the sulfonylurea
receptor 2A (SUR2A), a regulatory subunit of the cardiac ATP-sensitive
potassium channel (KATP). Gain-of-function variants alter KATP channel activity
and atrial repolarization.
- name: SCN1B-related
display_name: SCN1B sodium channel beta-1 familial AF
subtype_term:
preferred_term: SCN1B familial atrial fibrillation
term:
id: MONDO:0014155
label: atrial fibrillation, familial, 13
description: >-
Familial AF caused by variants in SCN1B, encoding the sodium channel beta-1
subunit, which modulates Nav1.5 gating kinetics and membrane expression.
Variants alter the peak and late sodium current in atrial cardiomyocytes.
- name: SCN2B-related
display_name: SCN2B sodium channel beta-2 familial AF
subtype_term:
preferred_term: SCN2B familial atrial fibrillation
term:
id: MONDO:0014156
label: atrial fibrillation, familial, 14
description: >-
Familial AF caused by variants in SCN2B, encoding the sodium channel beta-2
subunit. Like SCN1B, SCN2B modulates Nav1.5 channel function and the sodium
current in atrial myocytes.
- name: NUP155-related
display_name: NUP155 (nucleoporin 155) familial AF
subtype_term:
preferred_term: NUP155 familial atrial fibrillation
term:
id: MONDO:0014340
label: atrial fibrillation, familial, 15
description: >-
Autosomal recessive familial AF caused by loss-of-function variants in NUP155,
encoding nucleoporin 155, a component of the nuclear pore complex important
for nucleocytoplasmic transport and cardiac gene expression. Associated with a
severe phenotype including sudden cardiac death in young individuals.
- name: MYL4-related
display_name: MYL4 (atrial myosin light chain) familial AF
subtype_term:
preferred_term: MYL4 familial atrial fibrillation
term:
id: MONDO:0015001
label: atrial fibrillation, familial, 18
description: >-
Autosomal recessive familial AF caused by loss-of-function variants in MYL4,
encoding the atrial-specific essential myosin light chain. Associated with
early-onset AF, atrial myopathy, and progressive atrial cardiomyopathy.
- name: ATFB1-locus
display_name: Familial AF locus 1 (ATFB1)
subtype_term:
preferred_term: atrial fibrillation, familial, 1
term:
id: MONDO:0012066
label: atrial fibrillation, familial, 1
description: >-
A familial AF locus (ATFB1) mapped by linkage analysis without a confirmed
causal gene. Represented here as a MONDO leaf-class anchor.
- name: ATFB2-locus
display_name: Familial AF locus 2 (ATFB2)
subtype_term:
preferred_term: atrial fibrillation, familial, 2
term:
id: MONDO:0012167
label: atrial fibrillation, familial, 2
description: >-
A familial AF locus (ATFB2) mapped by linkage analysis without a confirmed
causal gene. Represented here as a MONDO leaf-class anchor.
- name: ATFB5-locus
display_name: Familial AF locus 5 (ATFB5)
subtype_term:
preferred_term: atrial fibrillation, familial, 5
term:
id: MONDO:0012678
label: atrial fibrillation, familial, 5
description: >-
A familial AF locus (ATFB5) without a confirmed causal gene in the
MONDO disease-by-gene series. Represented here as a MONDO leaf-class anchor.
- name: ATFB8-locus
display_name: Familial AF locus 8 (ATFB8)
subtype_term:
preferred_term: atrial fibrillation, familial, 8
term:
id: MONDO:0013100
label: atrial fibrillation, familial, 8
description: >-
A familial AF locus (ATFB8) without a confirmed causal gene in the
MONDO disease-by-gene series. Represented here as a MONDO leaf-class anchor.
- name: ATFB16-locus
display_name: Familial AF locus 16 (ATFB16)
subtype_term:
preferred_term: atrial fibrillation, familial, 16
term:
id: MONDO:0800349
label: atrial fibrillation, familial, 16
description: >-
A familial AF entity (ATFB16) without a confirmed causal gene or OMIM entry.
Represented here as a MONDO leaf-class anchor.
- name: ATFB17-locus
display_name: Familial AF locus 17 (ATFB17)
subtype_term:
preferred_term: atrial fibrillation, familial, 17
term:
id: MONDO:0800345
label: atrial fibrillation, familial, 17
description: >-
A familial AF entity (ATFB17) without a confirmed causal gene or OMIM entry.
Represented here as a MONDO leaf-class anchor.
pathophysiology:
- name: Atrial Ion-Channel or Coupling Variant
conforms_to: "cardiac_ion_channel_repolarization#Cardiac Ion-Channel or Calcium-Handling Variant"
description: >-
A germline (or, for GJA5, atrial-tissue-restricted somatic) variant alters an
atrial ion channel or gap-junction protein. The best-characterized variants
are gain-of-function in atrial potassium channels (KCNQ1/IKs, KCNJ2/IK1,
KCNE2), with additional families carrying GJA5 (connexin 40), NPPA, and SCN5A
variants.
cell_types:
- preferred_term: Atrial Cardiomyocyte
term:
id: CL:0002129
label: regular atrial cardiac myocyte
biological_processes:
- preferred_term: Cardiac conduction
term:
id: GO:0061337
label: cardiac conduction
modifier: ABNORMAL
evidence:
- reference: PMID:12522251
reference_title: "KCNQ1 gain-of-function mutation in familial atrial fibrillation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
We studied a family with hereditary persistent AF and identified the
causative mutation (S140G) in the KCNQ1 (KvLQT1) gene on chromosome
11p15.5.
explanation: >-
Establishes a monogenic atrial-channel variant (KCNQ1 S140G) as the
causative lesion in a familial AF kindred.
- reference: PMID:15922306
reference_title: "A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
A valine-to-isoleucine mutation at position 93 (V93I) of Kir2.1 was found
in all affected members in one kindred.
explanation: >-
Supports KCNJ2 (Kir2.1) as a second atrial potassium-channel locus carrying
a co-segregating variant in a familial AF kindred.
downstream:
- target: Shortened Atrial Action Potential and Refractoriness
causal_link_type: DIRECT
description: >-
Gain-of-function potassium-channel variants increase repolarizing current
and abbreviate the atrial action potential duration and effective
refractory period.
- name: Shortened Atrial Action Potential and Refractoriness
conforms_to: "cardiac_ion_channel_repolarization#Altered Action Potential and Calcium Handling"
description: >-
Enhanced atrial repolarizing current shortens the atrial action potential
duration and effective refractory period. A shorter refractory period reduces
the wavelength of atrial reentry, allowing more simultaneous reentrant
wavelets to be accommodated within the atria.
cell_types:
- preferred_term: Atrial Cardiomyocyte
term:
id: CL:0002129
label: regular atrial cardiac myocyte
biological_processes:
- preferred_term: Atrial cardiac muscle cell action potential
term:
id: GO:0086014
label: atrial cardiac muscle cell action potential
modifier: DECREASED
- preferred_term: Membrane repolarization during cardiac action potential
term:
id: GO:0086013
label: membrane repolarization during cardiac muscle cell action potential
modifier: INCREASED
evidence:
- reference: PMID:12522251
reference_title: "KCNQ1 gain-of-function mutation in familial atrial fibrillation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Thus, the S140G mutation is likely to initiate and maintain AF by reducing
action potential duration and effective refractory period in atrial
myocytes.
explanation: >-
Directly supports shortened atrial action potential duration and refractory
period as the mechanistic link between the gain-of-function channel variant
and AF.
- reference: PMID:15922306
reference_title: "A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Functional analysis of the V93I mutant demonstrated a gain-of-function
consequence on the Kir2.1 current.
explanation: >-
Supports increased inward-rectifier current as a second mechanism that
shortens atrial repolarization in familial AF.
downstream:
- target: Atrial Arrhythmogenic Substrate
causal_link_type: DIRECT
description: >-
A shortened refractory period and reduced reentry wavelength establish a
substrate permissive for sustained reentrant atrial activity.
- name: Atrial Gap-Junction Coupling Defect
description: >-
In GJA5-related familial AF, variants in connexin 40 impair gap-junction
assembly and intercellular electrical coupling between atrial myocytes,
producing heterogeneous, slowed atrial conduction that promotes reentry. This
is a coupling/conduction mechanism that converges on the same arrhythmogenic
substrate as the channelopathy arm.
cell_types:
- preferred_term: Atrial Cardiomyocyte
term:
id: CL:0002129
label: regular atrial cardiac myocyte
biological_processes:
- preferred_term: Electrical coupling in cardiac conduction
term:
id: GO:0086064
label: cell communication by electrical coupling involved in cardiac conduction
modifier: ABNORMAL
evidence:
- reference: PMID:16790700
reference_title: "Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
The cardiac gap-junction protein connexin 40 is expressed selectively in
atrial myocytes and mediates the coordinated electrical activation of the
atria.
explanation: >-
Establishes connexin 40 (GJA5) as an atrial-selective gap-junction protein
whose dysfunction disrupts coordinated atrial activation.
- reference: PMID:16790700
reference_title: "Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Mutations in GJA5 may predispose patients to idiopathic atrial fibrillation
by impairing gap-junction assembly or electrical coupling.
explanation: >-
Supports impaired gap-junction coupling as the mechanism by which GJA5
variants predispose the atria to fibrillation.
downstream:
- target: Atrial Arrhythmogenic Substrate
causal_link_type: DIRECT
description: >-
Impaired electrical coupling slows and disorganizes atrial conduction,
contributing to the reentrant substrate.
- name: Atrial Arrhythmogenic Substrate
conforms_to: "cardiac_ion_channel_repolarization#Arrhythmogenic Substrate and Triggered Activity"
description: >-
Shortened refractoriness and/or impaired coupling create an atrial substrate
that supports multiple coexisting reentrant wavelets and ectopic triggers,
initiating and maintaining atrial fibrillation. As AF persists, electrical
remodeling further shortens refractoriness ("AF begets AF").
cell_types:
- preferred_term: Atrial Cardiomyocyte
term:
id: CL:0002129
label: regular atrial cardiac myocyte
biological_processes:
- preferred_term: Cardiac muscle cell action potential
term:
id: GO:0086001
label: cardiac muscle cell action potential
modifier: ABNORMAL
evidence:
- reference: PMID:12522251
reference_title: "KCNQ1 gain-of-function mutation in familial atrial fibrillation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Atrial fibrillation (AF) is a common cardiac arrhythmia whose molecular
etiology is poorly understood.
explanation: >-
Frames the clinical endpoint (atrial fibrillation) whose monogenic
molecular etiology this entry models.
downstream:
- target: Sustained Atrial Fibrillation
causal_link_type: DIRECT
description: >-
The reentry-prone atrial substrate manifests clinically as sustained or
recurrent atrial fibrillation.
- name: Sustained Atrial Fibrillation
description: >-
The clinical manifestation: paroxysmal, persistent, or permanent atrial
fibrillation, typically with earlier onset than acquired AF and often in
structurally normal hearts. Loss of organized atrial contraction predisposes
to thromboembolism and stroke.
cell_types:
- preferred_term: Atrial Cardiomyocyte
term:
id: CL:0002129
label: regular atrial cardiac myocyte
evidence:
- reference: PMID:12522251
reference_title: "KCNQ1 gain-of-function mutation in familial atrial fibrillation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
We studied a family with hereditary persistent AF and identified the
causative mutation (S140G) in the KCNQ1 (KvLQT1) gene on chromosome
11p15.5.
explanation: >-
Documents persistent atrial fibrillation as the segregating clinical
phenotype in a familial AF kindred.
phenotypes:
- name: Atrial Fibrillation
category: Cardiovascular
frequency: VERY_FREQUENT
description: >-
Irregularly irregular atrial tachyarrhythmia, the defining phenotype, often
of earlier onset than acquired AF.
phenotype_term:
preferred_term: Atrial fibrillation
term:
id: HP:0005110
label: Atrial fibrillation
evidence:
- reference: PMID:12522251
reference_title: "KCNQ1 gain-of-function mutation in familial atrial fibrillation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
We studied a family with hereditary persistent AF and identified the
causative mutation (S140G) in the KCNQ1 (KvLQT1) gene on chromosome
11p15.5.
explanation: >-
Documents persistent atrial fibrillation as the segregating phenotype.
- name: Palpitations
category: Cardiovascular
description: Awareness of rapid or irregular heartbeat during AF episodes.
phenotype_term:
preferred_term: Palpitations
term:
id: HP:0001962
label: Palpitations
- name: Stroke
category: Cardiovascular
description: >-
Cardioembolic stroke from left atrial appendage thrombus, the major
complication of AF.
phenotype_term:
preferred_term: Stroke
term:
id: HP:0001297
label: Stroke
genetic:
- name: KCNQ1 gain-of-function variants
association: Causative
features: >-
Gain-of-function KCNQ1 (KvLQT1) variants such as S140G augment the IKs
current and shorten atrial refractoriness, the first identified monogenic
cause of familial AF.
gene_term:
preferred_term: KCNQ1
term:
id: hgnc:6294
label: KCNQ1
inheritance:
- name: Autosomal dominant
inheritance_term:
preferred_term: Autosomal dominant inheritance
term:
id: HP:0000006
label: Autosomal dominant inheritance
evidence:
- reference: PMID:12522251
reference_title: "KCNQ1 gain-of-function mutation in familial atrial fibrillation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Functional analysis of the S140G mutant revealed a gain-of-function effect
on the KCNQ1/KCNE1 and the KCNQ1/KCNE2 currents, which contrasts with the
dominant negative or loss-of-function effects of the KCNQ1 mutations
previously identified in patients with long QT syndrome.
explanation: >-
Establishes KCNQ1 gain-of-function (distinct from the loss-of-function
long-QT mechanism) as causative in familial AF.
- name: KCNJ2 gain-of-function variants
association: Causative
features: >-
Gain-of-function KCNJ2 (Kir2.1) variants such as V93I increase the
inward-rectifier IK1 current and shorten atrial repolarization.
gene_term:
preferred_term: KCNJ2
term:
id: hgnc:6263
label: KCNJ2
inheritance:
- name: Autosomal dominant
inheritance_term:
preferred_term: Autosomal dominant inheritance
term:
id: HP:0000006
label: Autosomal dominant inheritance
evidence:
- reference: PMID:15922306
reference_title: "A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Kir2.1 V93I mutation may play a role in initiating and/or maintaining AF by
increasing the activity of the inward rectifier K(+) channel.
explanation: >-
Supports KCNJ2 gain-of-function as a causative familial-AF mechanism via
increased IK1.
- name: GJA5 (connexin 40) variants
association: Causative
features: >-
Germline or atrial-tissue-restricted somatic GJA5 missense variants impair
connexin-40 gap-junction assembly and atrial electrical coupling.
gene_term:
preferred_term: GJA5
term:
id: hgnc:4279
label: GJA5
inheritance:
- name: Autosomal dominant
inheritance_term:
preferred_term: Autosomal dominant inheritance
term:
id: HP:0000006
label: Autosomal dominant inheritance
evidence:
- reference: PMID:16790700
reference_title: "Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Four novel heterozygous missense mutations were identified in 4 of the 15
patients.
explanation: >-
Documents GJA5 missense variants (somatic and germline) in patients with
idiopathic AF.
- name: KCNE2 gain-of-function variants
association: Causative
features: >-
Gain-of-function variants in the potassium-channel beta subunit KCNE2 are
associated with familial AF through enhancement of cardiac potassium current.
gene_term:
preferred_term: KCNE2
term:
id: hgnc:6242
label: KCNE2
inheritance:
- name: Autosomal dominant
inheritance_term:
preferred_term: Autosomal dominant inheritance
term:
id: HP:0000006
label: Autosomal dominant inheritance
- name: NPPA variants
association: Causative
features: >-
Variants in NPPA (atrial natriuretic peptide precursor) are linked to
familial AF.
gene_term:
preferred_term: NPPA
term:
id: hgnc:7939
label: NPPA
inheritance:
- name: Autosomal dominant
inheritance_term:
preferred_term: Autosomal dominant inheritance
term:
id: HP:0000006
label: Autosomal dominant inheritance
- name: SCN5A variants
association: Associated
features: >-
Cardiac sodium-channel SCN5A variants are associated with familial AF as part
of the broader SCN5A arrhythmia spectrum.
gene_term:
preferred_term: SCN5A
term:
id: hgnc:10593
label: SCN5A
inheritance:
- name: Autosomal dominant
inheritance_term:
preferred_term: Autosomal dominant inheritance
term:
id: HP:0000006
label: Autosomal dominant inheritance
treatments:
- name: Oral Anticoagulation
description: >-
Anticoagulation for stroke prevention, guided by individual thromboembolic
risk, as in other forms of atrial fibrillation.
treatment_term:
preferred_term: Pharmacotherapy
term:
id: NCIT:C15986
label: Pharmacotherapy
- name: Rate or Rhythm Control
description: >-
Antiarrhythmic drugs, atrioventricular nodal rate-control agents, or
catheter ablation to control ventricular rate or restore/maintain sinus
rhythm.
treatment_term:
preferred_term: Pharmacotherapy
term:
id: NCIT:C15986
label: Pharmacotherapy
- name: Genetic Counseling
description: >-
Counseling for affected families given autosomal dominant inheritance, with
consideration of cascade screening of first-degree relatives.
treatment_term:
preferred_term: Genetic Counseling
term:
id: NCIT:C15240
label: Genetic Counseling
notes: >-
Familial AF is genetically heterogeneous; OMIM enumerates numerous ATFB loci
(familial AF 1-18 in MONDO). The well-validated, mechanistically informative
subtypes are represented here as has_subtypes rather than as separate
gene-level files, consistent with the issue #4242 recommendation to prefer a
single lumped entry. This entry is distinct from the general/acquired Atrial
Fibrillation entry (MONDO:0004981). The grouping-membership decision for the
Inherited Arrhythmia Syndromes grouping (broaden vs. spin off an atrial/
conduction sibling grouping) is deferred to maintainers per #4242.
references:
- reference: PMID:12522251
title: "KCNQ1 gain-of-function mutation in familial atrial fibrillation."
findings: []
- reference: PMID:15922306
title: "A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation."
findings: []
- reference: PMID:16790700
title: "Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation."
findings: []