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

Article type: Research Article

Authors: Mavrogeni, Sophie^{a; *} | Giannakopoulou, Aikaterini^b | Katsalouli, Marina^b | Pons, Roser Maria^b | Papavasiliou, Antigoni^c | Kolovou, Genovefa^a | Noutsias, Michel^d | Papadopoulos, George^b | Karanasios, Evangelos^b | Chrousos, George P.^b

Affiliations: [a] Onassis Cardiac Surgery Center, Athens, Greece | [b] First Department of Paediatrics, National and Kapodistrian University of Athens, Aghia Sophia Children’s Hospital, Athens, Greece | [c] Penteli Children’s Hospital, Athens, Greece | [d] Mid-German Heart Center, Department of Internal Medicine III (KIM-III), Division of Cardiology, Angiology and Intensive Medical Care, University Hospital Halle, Martin-Luther-University Halle, Ernst-Grube-Strasse 40, D-06120 Halle (Saale), Germany

Correspondence: [*] Correspondence to: Sophie Mavrogeni, MD FESC, 50 Esperou Street, 175-61 P. Faliro, Athens, Greece. Tel./Fax: +30 210 98 82 797; E-mail: soma13@otenet.gr.

Abstract: BackgroundFriedreich’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. MethodsThree 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. ResultsAll 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. ConclusionThe 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.

Keywords: Cardiovascular magnetic resonance imaging, Friedreich’s ataxia, diagnosis

DOI: 10.3233/JND-180373

Journal: Journal of Neuromuscular Diseases, vol. 7, no. 1, pp. 61-67, 2020