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. 2025 Feb;46(2):379-382.
doi: 10.1007/s00246-024-03429-5. Epub 2024 Mar 1.

Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia

David R Lynch  1   2   3 , Sub Subramony  4 , Kimberly Y Lin  5   6 , Katherine Mathews  7 , Susan Perlman  8 , Grace Yoon  9 , Christian Rummey  10
Affiliations

Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia

David R Lynch et al. Pediatr Cardiol. 2025 Feb.

Abstract

We examined the clinical features of Friedreich ataxia (FRDA) patients who present first with cardiac disease in order to understand the earliest features of the diagnostic journey in FRDA. We identified a group of subjects in the FACOMS natural history study whose first identified clinical feature was cardiac. Only 0.5% of the total cohort belonged to this group, which was younger on average at the time of presentation. Their cardiac symptoms ranged from asymptomatic features to heart failure with severe systolic dysfunction. Two of those individuals with severe dysfunction proceeded to heart transplantation, but others spontaneously recovered. In most cases, diagnosis of FRDA was not made until well after cardiac presentation. The present study shows that some FRDA patients present based on cardiac features, suggesting that earlier identification of FRDA might occur through enhancing awareness of FRDA among pediatric cardiologists who see such patients. This is important in the context of newly identified therapies for FRDA.

Keywords: Cardiomyopathy; Hypertrophy; Mitochondria; Omaveloxolone.

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Conflict of interest statement

Declarations. Conflict of interest: The present work was sponsored by grants from the Friedreich Ataxia Research Alliance to each of the authors.

References

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