Characterizing Friedreich’s ataxia cardiomyopathy with serial cardiac magnetic resonance imagings

Q: What is the clinical evidence from this study?

Study design: Observational. Population: Friedreich's ataxia cardiomyopathy (n=15). Intervention: Cardiac magnetic resonance imaging (CMR) surveillance over time. Primary outcome: Annual change in left ventricular ejection fraction (LVEF) (-0.73% per year, 95% CI -1.5 to 0.04, p=0.06).

Q: What does this research mean for the field?

In patients with Friedreich's ataxia, serial cardiac magnetic resonance imaging demonstrates characteristic septal hypertrophy and lateral wall fibrosis, with an annual left ventricular ejection fraction decline of 0.73% that does not achieve statistical significance. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

Megan E. Gunsaulus; Rajesh Krishnamurthy; Chance Alvarado; Deipanjan Nandi; Linda H. Cripe; Megan A. Waldrop; Emily A. Hayes

doi:10.4103/apc.apc_22_26

July 1, 2026Annals of Pediatric CardiologyOpen Access

Characterizing Friedreich’s ataxia cardiomyopathy with serial cardiac magnetic resonance imagings

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Key result

Serial CMR tracks early myocardial remodeling without significant annual LVEF decline in Friedreich's ataxia.

-0.73% per year
95% CI -1.5 to 0.04
P=0.06
n=15

Figures

Why the study?

Friedreich’s ataxia is a hereditary neuromuscular disorder with cardiac involvement as the leading cause of death, but progression of CMR biomarkers and their clinical relationships are not well characterized.

Key Points

To examine the longitudinal progression of cardiac magnetic resonance imaging (CMR) biomarkers in Friedreich's ataxia cardiomyopathy and evaluate their associations with clinical outcomes.
Retrospective, single-center study evaluating 15 patients with Friedreich's ataxia (mean age: 22.7 ± 7.6 years) across 37 CMR scans over an average span of 11.0 ± 5.0 years from neuromuscular symptom onset.
CMR protocol evaluated segmental late gadolinium enhancement (LGE), left ventricular ejection fraction (LVEF), maximal left ventricular (LV) wall thickness, native T1 mapping, and extracellular volume (ECV) fraction.
Linear mixed-effects regression models evaluated longitudinal changes in CMR parameters and their correlations with clinical features, cardiac medications, and genetic severity.
Six patients (40%) demonstrated LGE localized to the LV free wall with a nonsignificant annual increase of 0.5 segments (95% CI: −0.4 to 1.47; P = 0.25), while LVEF showed an annual decline of 0.73%/year (95% CI: −1.5 to 0.04; P = 0.06).
Native T1 (1224.7 ± 87.1 ms) and ECV (33.3% ± 8.3%) were globally elevated, but LV wall thickness, native T1, and ECV did not change significantly over time from symptom onset.
Maximal LV thickness was positively associated with cardiac symptoms (r = 0.54; 95% CI: 0.03 to 0.82; P = 0.04) and the use of cardiac medications (r = 0.58; 95% CI: 0.09 to 0.84; P = 0.024).

Study Design

Type

Observational (n=15)

Multicenter

No

Structured PICO

P

Population

15 patients with genetically confirmed Friedreich's ataxia (mean age 22.7, 60% female) who underwent serial cardiac magnetic resonance imaging, evaluated over an average of 11 years from symptom onset.

E

Exposure

Cardiac magnetic resonance (CMR) imaging (serial scans in 9 patients, single scans in 6) assessing late gadolinium enhancement (LGE), left ventricular ejection fraction (LVEF), LV wall thickness, native T1 mapping, and extracellular volume (ECV) fraction.

O

Outcome

Progression of CMR biomarkers (LGE, LVEF, LV wall thickness, native T1 mapping, and ECV fraction) over time and their relationships with clinical outcomes.surrogate

Main Result

Effect estimate: -0.73% per year (95% CI -1.5 to 0.04)

p-value: p=0.06

In patients with Friedreich's ataxia, serial CMR imaging demonstrates progressive lateral wall fibrosis and a trend toward declining left ventricular function, underscoring its utility in identifying and monitoring early cardiomyopathy.

Limitations

Small sample size
Retrospective design
Variable follow-up durations
Genetic data were available for only a subset of patients
Not all patients contributed longitudinal data (only 9 of 15 had serial CMRs)
Myocardial strain analysis was not performed
small sample size
retrospective design
variable follow-up durations
genetic data available for only a subset of patients
not all patients contributed longitudinal data (only 9 of 15)
lack of myocardial strain analysis

Implication

Serial CMR may identify early remodeling in Friedreich's ataxia; leaves open prognostic validation in larger prospective cohorts.

Abstract

Background: Friedreich’s ataxia (FA) is a hereditary neuromuscular disorder with cardiac involvement as the leading cause of death. This study examines the progression of cardiac magnetic resonance imaging (CMR) biomarkers in FA-associated cardiomyopathy and their relationships with clinical outcomes. Materials and Methods: This retrospective, single-center study included FA patients with at least one CMR. CMR assessment included segmental late gadolinium enhancement (LGE), left ventricle (LV) ejection fraction (EF), LV wall thickness, native T1 mapping, and extracellular volume (ECV) fraction. Linear mixed-effects regression models were used to assess CMR parameters in relation to each other and time. Results: Fifteen patients (mean age: 22.7 ± 7.6 years) and 37 CMRs were evaluated over an average of 11.0 ± 5.0 years from neuromuscular symptom onset. LV thickness was most notable along the septum, while LGE was localized to the LV free wall. Native T1 and ECV were globally elevated. Six (40%) patients demonstrated LGE, and those negative at baseline remained negative. LGE increased by 0.5 segments per year ( P = 0.25), and LVEF declined by 0.73%/year ( P = 0.06); however, neither reached statistical significance. LV thickness, native T1, and ECV did not change significantly. Maximal LV thickness correlated with cardiac symptoms ( P = 0.04) and cardiac medications ( P = 0.024). Conclusions: In this exploratory study, CMR demonstrated patterns of septal hypertrophy, lateral wall fibrosis, and trends toward declining ventricular function. Findings were largely nonsignificant and should be considered hypothesis-generating. Larger, multicenter studies are needed to clarify the role of CMR in disease progression and clinical management.

Discussion

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Cite This Study

Gunsaulus et al. (2026) conducted an observational in Friedreich's ataxia cardiomyopathy (n=15). Cardiac magnetic resonance imaging (CMR) surveillance over time was evaluated on Annual change in left ventricular ejection fraction (LVEF) (-0.73% per year, 95% CI -1.5 to 0.04, p=0.06). In patients with Friedreich's ataxia, serial CMR demonstrated a non-significant trend toward declining left ventricular ejection fraction of 0.73% per year alongside early global myocardial remodeling.

synapsesocial.com/papers/6ad0fc513afa093ea9acfdb0 https://doi.org/10.4103/apc.apc_22_26

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Characterizing Friedreich’s ataxia cardiomyopathy with serial cardiac magnetic resonance imagings

Figures

Key Points

Study Design

Structured PICO

Main Result

Limitations

Implication

Abstract

Discussion

Cite This Study

Characterizing Friedreich’s ataxia cardiomyopathy with serial cardiac magnetic resonance imagings

Figures

Key Points

Study Design

Structured PICO

Main Result

Limitations

Implication

Abstract

Discussion

Cite This Study

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