Friedreich’s Ataxia: Case series and the Additive Value of Cardiovascular Magnetic Resonance

Background Friedreich’s ataxia (FA) is an autosomal-recessive neurodegenerative disease characterised by neurologic, cardiac and endocrine abnormalities. Currently, Friedreich cardiomyopathy (FA-CM) staging is based on early ECG findings, high sensitivity troponin (hsTNT) ≥14 ng/ml and echocardiogra...

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Veröffentlicht in:Journal of neuromuscular diseases 2020-01, Vol.7 (1), p.61-67
Hauptverfasser: Mavrogeni, Sophie, Giannakopoulou, Aikaterini, Katsalouli, Marina, Pons, Roser Maria, Papavasiliou, Antigoni, Kolovou, Genovefa, Noutsias, Michel, Papadopoulos, George, Karanasios, Evangelos, Chrousos, George P.
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Sprache:eng
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Zusammenfassung:Background Friedreich’s ataxia (FA) is an autosomal-recessive neurodegenerative disease characterised by neurologic, cardiac and endocrine abnormalities. Currently, Friedreich cardiomyopathy (FA-CM) staging is based on early ECG findings, high sensitivity troponin (hsTNT) ≥14 ng/ml and echocardiographic left ventricular (LV) morphologic and functional evaluation. However, further parameters, accessible only by cardiovascular magnetic resonance (CMR), such as myocardial oedema, perfusion defects, replacement and/or diffuse myocardial fibrosis, may have a place in the staging of FA-CA. Our aim was to elucidate the additive value of CMR in FA-CM. Methods Three FA cases were assessed using ECG, 24 h Holter recording, hsTNT, routine ECHO including wall dimension, valvular and ventricular function evaluation and CMR using 1.5T Ingenia system. Ventricular volumes-function, wall dimensions and fibrosis imaging using late gadolinium enhancement (LGE) was performed. Results All FA patients had non-specific ECG changes, almost normal 24 h Holter recording, mild hypertrophy with normal function assessed by echocardiography and increased hsTNT. However, the CMR evaluation revealed the presence of LGE >5% of LV mass, indicative of severe fibrosis. Therefore, the FA patients were re-categorized as having severe FA-CA, although their LVEF remained normal. Conclusion The combination of classical diagnostic indices and CMR may reveal early asymptomatic FA-CM and motivate the early initiation of cardiac treatment. Furthermore, these indices can be also used to validate specific treatment targets in FA, potentially useful in the prevention of FA-CM.
ISSN:2214-3599
2214-3602
DOI:10.3233/JND-180373