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

Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia

Pediatr Cardiol. 2024 Mar 1. doi: 10.1007/s00246-024-03429-5. Online ahead of print.

Authors

David R Lynch^{1

2

3}, Sub Subramony⁴, Kimberly Y Lin^{5

6}, Katherine Mathews⁷, Susan Perlman⁸, Grace Yoon⁹, Christian Rummey¹⁰

Affiliations

¹ Penn/CHOP Friedreich Ataxia Center of Excellence, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA. lynchd@pennmedicine.upenn.edu.
² Departments of Pediatrics and Neurology, Perelman School of Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, 19104, USA. lynchd@pennmedicine.upenn.edu.
³ Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, 502F Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA, 19104-4318, Switzerland. lynchd@pennmedicine.upenn.edu.
⁴ Department of Neurology, University of Florida, Gainesville, FL, 32608, USA.
⁵ Penn/CHOP Friedreich Ataxia Center of Excellence, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
⁶ Division of Cardiology, Department of Pediatrics, Perelman School of Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, 19104, USA.
⁷ Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
⁸ Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, 90095, USA.
⁹ Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
¹⁰ Clinical Data Science GmbH, Basel, Switzerland.

PMID: 38427090
DOI: 10.1007/s00246-024-03429-5

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.