Cardiac Involvement in Friedreich’s ataxia: A Case Series Highlighting Imaging Findings
| Author | Mersad Mehrnahad | en |
| Author | Hamidreza Pouraliakbar | en |
| Author | Fatemeh Abedpour | en |
| Author | Mansoor Namazi | en |
| Author | Mahya Elmi | en |
| Orcid | Mersad Mehrnahad [0000-0002-8744-9219] | en |
| Orcid | Hamidreza Pouraliakbar [0000-0002-2557-4030] | en |
| Orcid | Mansoor Namazi [0000-0001-6188-9200] | en |
| Orcid | Mahya Elmi [0009-0002-9413-5215] | en |
| Issued Date | 2025-07-30 | en |
| Abstract | Background: Friedreich’s ataxia (FA) is a hereditary neurodegenerative disease frequently complicated by cardiomyopathy, which significantly contributes to patient morbidity and mortality. Conventional imaging techniques may miss early myocardial changes. Objectives: This case series highlights the novel application of advanced cardiac magnetic resonance (CMR) imaging in detecting subclinical myocardial fibrosis and stratifying cardiac risk in FA patients — capabilities often limited in echocardiography. Patients and Methods: Four genetically confirmed FA patients (aged 8 - 22 years) underwent comprehensive CMR, including cine imaging, late gadolinium enhancement (LGE), and tissue mapping sequences. Results: All patients demonstrated concentric left ventricular hypertrophy (LVH), with wall thicknesses ranging from 13 to 21 mm. The LGE revealed patchy myocardial fibrosis in three patients, while T1 mapping indicated diffuse fibrosis even in segments without visible LGE. T2 mapping ruled out active inflammation. Systolic dysfunction [left ventricle ejection fraction (LVEF) ~ 46%] was observed in three cases, while one had preserved function. Conclusion: The CMR provides a unique advantage in identifying and characterizing early cardiac involvement in FA, particularly subclinical fibrosis undetectable by echocardiography. These findings support the integration of CMR into routine FA assessment to improve early diagnosis, risk stratification, and management of cardiomyopathy. | en |
| DOI | https://doi.org/10.5812/iranjradiol-162268 | en |
| Keyword | Friedreich’s Ataxia | en |
| Keyword | Cardiac MRI | en |
| Keyword | Cardiomyopathy | en |
| Keyword | Myocardial Fibrosis | en |
| Keyword | Risk Stratification | en |
| Keyword | Left Ventricular Hypertrophy | en |
| Publisher | Brieflands | en |
| Title | Cardiac Involvement in Friedreich’s ataxia: A Case Series Highlighting Imaging Findings | en |
| Type | Research Article | en |