Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia

David R Lynch; Sub Subramony; Kimberly Y Lin; Katherine Mathews; Susan Perlman; Grace Yoon; Christian Rummey

doi:10.1007/s00246-024-03429-5

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Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia

Journal article

Peer reviewed

Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia

David R Lynch, Sub Subramony, Kimberly Y Lin, Katherine Mathews, Susan Perlman, Grace Yoon and Christian Rummey

Pediatric cardiology, Vol.46(2), pp.379-382

02/2025

DOI: 10.1007/s00246-024-03429-5

PMID: 38427090

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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.

Cardiomyopathy

Mitochondria

Omaveloxolone

Hypertrophy

Details

Title: Subtitle: Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia
Creators: David R Lynch - Philadelphia University
Sub Subramony - University of Florida
Kimberly Y Lin - Philadelphia University
Katherine Mathews - University of Iowa
Susan Perlman - University of California, Los Angeles
Grace Yoon - University of Toronto
Christian Rummey - Clinical Data Science GmbH, Basel, Switzerland
Resource Type: Journal article
Publication Details: Pediatric cardiology, Vol.46(2), pp.379-382
DOI: 10.1007/s00246-024-03429-5
PMID: 38427090
NLM abbreviation: Pediatr Cardiol
eISSN: 1432-1971
Grant note: DOI: 10.13039/100002108, name: Friedreich's Ataxia Research Alliance
Language: English
Electronic publication date: 03/01/2024
Date published: 02/2025
Academic Unit: Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
Record Identifier: 9984563557002771

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