Genetic testing in early-onset atrial fibrillation

Atrial fibrillation (AF) is a common rhythm disorder of the heart, which may lead to stroke and heart failure. AF is often seen as a disease that occurs in old people with risk factors like hypertension and obesity. In recent years, however, it has become clear that AF is also influenced by genetics, especially in people who develop AF at younger age. Among patients affected by AF before 60 years, rare genetic mutations (gene variants) may even be found in 5-10%. Many of these mutations are linked to severe heritable diseases, such as heart muscle diseases (so-called cardiomyopathies) or heritable rhythm disorders. As such, genetic testing in young AF patients may tell us about their risk of severe heart problems. Genetic testing might also help identify family members at risk. Experts therefore agree that genetic testing might be considered in some young AF patients. Nevertheless, more research and studies are required before we can broadly offer genetic testing to people with AF.

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Kany S, Jurgens SJ, Rämö JT, Christophersen IE, Rienstra M, Chung MK, Olesen MS, Ackerman MJ, McNally EM, Semsarian C, Schnabel RB, Wilde AAM, Benjamin EJ, Rehm HL, Kirchhof P, Bezzina CR, Roden DM, Shoemaker MB, Ellinor PT. Genetic testing in early-onset atrial fibrillation.

Eur Heart J. 2024 Sep 7;45(34):3111-3123. doi: 10.1093/eurheartj/ehae298. PMID: 39028637; PMCID: PMC11379493.

Translated by Sean Jurgens and Ruth Biller