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June 27, 2026EP EuropaceOpen Access

Combined imaging and genetic testing identifies pathogenic variants in 26% of early-onset AF patients.

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Population

24 patients with atrial fibrillation onset before age 50, mean age at first AF episode 33.1 years, 79% male.

Design

Cohort

Key result

Combined imaging and genetic assessment in patients with early-onset atrial fibrillation identified pathogenic or likely pathogenic variants in 26% of the cohort.

Authors

VRV RellaRCR ChiancaECE Curti

Discussion

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Overview

Supports targeted genetic evaluation; leaves open effects on prognosis and management.

Key Points

  • This study aims to evaluate the effectiveness of combining genetic testing with imaging techniques in diagnosing early-onset atrial fibrillation linked to inherited cardiomyopathy.
  • 24 patients with early-onset atrial fibrillation were evaluated, referred for comprehensive assessments.
  • Patients underwent family history screening, ECG with Brugada leads, echocardiography, and cardiac magnetic resonance imaging.
  • Genetic testing was performed using targeted panels for cardiomyopathy and arrhythmia genes.
  • 26% of patients carried pathogenic or likely pathogenic variants, notably in TTN, LMNA, MYH7, and SCN5A.
  • CMR abnormalities were found in 55% of patients who underwent imaging, with ECG anomalies detected in 46%.
  • Among variant carriers, 3 of 5 demonstrated structural and/or conduction abnormalities.

Study Design

Type

Observational (n=24)

Structured PICO

P
Population
24 patients with early-onset atrial fibrillation (onset before age 50) who underwent comprehensive evaluation including genetic testing and cardiac imaging.
E
Exposure
Comprehensive evaluation including genetic testing (targeted or extended panels for cardiomyopathy and arrhythmia genes), ECG, echocardiography, and cardiac magnetic resonance (CMR).
O
Outcome
Diagnostic yield of genetic testing and prevalence of structural abnormalities and pathogenic or likely pathogenic variants.surrogate

A notable proportion of patients with early-onset atrial fibrillation carry pathogenic genetic variants, highlighting the value of integrating genetic testing and cardiac imaging to identify underlying cardiomyopathic or arrhythmogenic substrates.

Cite This Study

Rella et al. (2026) conducted an observational in Early-onset atrial fibrillation (n=24). Combined imaging and genetic assessment was evaluated on Prevalence of pathogenic or likely pathogenic variants. Combined imaging and genetic assessment in patients with early-onset atrial fibrillation identified pathogenic or likely pathogenic variants in 26% of the cohort.

synapsesocial.com/papers/6a3f9785125782b61d865797https://doi.org/10.1093/europace/euag105.080
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Genetic evaluation of early-onset atrial fibrillation: impact on patient management2025 · 10 citations
  2. 2A Review of Cardiomyopathy Gene Variants as Drivers of Early-Onset Atrial Fibrillation: Linking Genotype to Phenotype in Precision Medicine.2026
  3. 3A review of cardiomyopathy gene variants as drivers of early-onset atrial fibrillation: linking genotype to phenotype in precision medicine2026 · 1 citations
  4. 4Family screening in ECG positive phenotype negative adolescent individuals2026
  5. 5Age-Dependent Contributions of Rare and Common Genetic Variation in Atrial Fibrillation2025 · 2 citations