Atrial Fibrillation

38 genes

Atrial fibrillation (AF) is a common heart arrhythmia in the general population with prevalence increasing with age affecting nearly 6% of individuals over 65 years. There are many cardiac conditions that may predispose to the development of this arrhythmia, although it was observed in the recent years that genetics may be the cause in 5%-15% of cases diagnosed with lone AF.

AtrialFibrillation Atrial Fibrillation

Patients with a family history of atrial fibrillation in the absence of predisposing factors such as hypertension, ischemic cardiomyopathy, structural or organic heart diseases.

2014 AHA/ACC/HRS guideline for the management of patients with atrial fibrillation: executive summary: a report of the American College of Cardiology/American Heart Association Task Force on practice guidelines and the Heart Rhythm Society. January CT, et al. Circulation. 2014 Dec 2;130(23):2071-104.
The probability of finding a pathogenic mutation when a patient presents atrial fibrillation has not been clearly established. The yield could be higher in cases where there is a family history of this disorder, and when it occurs in young subjects without a clear cause.

Atrial Fibrillation Panel

38 genes
The panel includes genes with clinical and functional evidence of association with familial atrial fibrillation. Many of the included genes are associated with defined electrophysiological phenotypes or even structural heart diseases in which the development of atrial fibrillation may be the first or the main manifestation of the disease.

ABCC9, ACTC1, EMD, GATA4, GATA6, GJA1, GJA5, HCN4, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNJ2, KCNQ1, LMNA, NKX2-5, NPPA, PITX2, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, TBX5, TTR, CACNB2*, JPH2*, KCNH2*, KCNJ5*, KCNJ8*, KCNK3*, TNNI3*, TNNT2*, TPM1*

Notes on Genes

Priority Genes: These genes include >70% of the mutations that have been previously associated with the development of atrial fibrillation and/or their testing is recommended by the guidelines. Secondary genes: Other genes related to the disease. *Candidate genes: With no evidence, but likely to be related to the phenotype.