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3rd Nov, 2026 12:00 AM
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Gene-Elusive Cardiomyopathy: Do Athletes Fare Worse?

TOPLINE

Among patients with gene-elusive arrhythmogenic cardiomyopathy (ACM), competitive athletes had more T-wave inversions (TWIs) and larger right ventricular (RV) volumes than non-athletes. Athlete status was associated with a higher unadjusted hazard of life-threatening ventricular arrhythmias (LTVAs), death, or heart transplantation.

METHODOLOGY

  • Researchers conducted a retrospective, single-centre cohort study at a university hospital in Switzerland to examine the links between lifetime exercise, competitive athlete status, and phenotype and arrhythmic outcomes in gene-elusive ACM.
  • They included 46 patients (mean age at presentation, 49.6 years; seven women) who met either the 2010 revised Task Force criteria or the 2024 Padua criteria for definite or borderline ACM; of these, 26 were competitive athletes and 20 were non-athletes.
  • Eligible patients had negative genetic testing for pathogenic or likely pathogenic variants in ACM-related genes, exercise data from a standardised questionnaire or medical records, and baseline ECG or imaging results.
  • Competitive athletes were defined as those who trained and competed regularly, with a weekly exercise load of at least 24 metabolic equivalents of task-hours for 6 or more consecutive years.
  • The composite endpoint was LTVA, death, or heart transplantation. Patients were followed up for a median duration of 7.5 years.

TAKEAWAY

  • Competitive athletes had more TWIs on baseline ECG than non-athletes (mean, 4.00 vs 2.40 leads; P = .047) and a shorter corrected QT interval (mean, 415 vs 450 ms; P < .001).
  • The RV end-diastolic volume was larger in competitive athletes than in non-athletes (mean, 116 vs 95 mL; P = .040); left ventricular (LV) measures did not show a significant difference.
  • In unadjusted analysis, athlete status was associated with a higher hazard of the composite endpoint during follow-up (hazard ratio [HR], 2.67; P = .029).
  • LTVA at presentation, seen in 54.3% of patients, was associated with a higher hazard of the composite endpoint (HR, 2.77), as were syncope at presentation (HR, 4.01), ventricular late gadolinium enhancement on cardiac imaging (RV: HR, 3.22 and LV: HR, 6.05), and more extensive inferior TWIs (HR, 1.50; P < .05 for all).

IN PRACTICE

"This observation emphasises the need for better screening tools to identify non-familial ACM before its first arrhythmic presentation, particularly among individuals with substantial exercise exposure," the researchers wrote.

SOURCE

The study was led by Lucas Tramèr, University Hospital Zurich, Zürich, Switzerland. It was published online on October 26, 2026, in Open Heart.

LIMITATIONS

The relatively small sample size of the study limited statistical power. The retrospective study design precluded causal inference. Data on exercise were self‑reported, which may have introduced recall bias.

DISCLOSURES

Funding information for the study was not explicitly mentioned. One author disclosed receiving proctoring or speaker fees from industry sources.

SUGGESTED FOR YOU

This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.

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