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Hereditary atrial fibrillation

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Hereditary atrial fibrillation

ORPHA:334Disease

What it is

Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.

Key facts

Age of onset
Adult, Elderly
Inheritance
Autosomal dominant
Classified as
Disease

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

GATA4Disease-causing germline mutation(s) (loss of function)
GATA5Disease-causing germline mutation(s) (loss of function)
GATA6Disease-causing germline mutation(s) (loss of function)
GJA5Disease-causing germline mutation(s)
KCNA5Disease-causing germline mutation(s) (loss of function)
KCNE2Disease-causing germline mutation(s) (gain of function)
KCNJ2Disease-causing germline mutation(s) (gain of function)
KCNJ3Disease-causing germline mutation(s)
KCNJ5Disease-causing germline mutation(s)
KCNQ1Disease-causing germline mutation(s) (gain of function)
MYL4Disease-causing germline mutation(s)
NKX2-5Disease-causing germline mutation(s) (loss of function)
NKX2-6Major susceptibility factor
NPPADisease-causing germline mutation(s)
NUP155Disease-causing germline mutation(s) (loss of function)
PITX2Disease-causing germline mutation(s) (loss of function)
SCN2BDisease-causing germline mutation(s) (loss of function)
SCN3BDisease-causing germline mutation(s) (loss of function)
SCN4BDisease-causing germline mutation(s)
SCN5ADisease-causing germline mutation(s) (gain of function)
TTNMajor susceptibility factor
ABCC9Candidate gene tested
KCNE1Candidate gene tested
SCN1BCandidate gene tested

ICD-10 codes

I48.9filed under a broader ICD-10 category

Related health topics

Atrial Fibrillation

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 9740MEDDRA 10088317MONDO 0018054OMIM 607554OMIM 608583OMIM 608988OMIM 611493OMIM 611494OMIM 611819OMIM 612201OMIM 612240OMIM 613055OMIM 613120OMIM 613980OMIM 614022OMIM 614049OMIM 614050OMIM 615377OMIM 615378OMIM 615770OMIM 617280OMIM 617912UMLS C3468561

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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