PMID- 31796683 OWN - NLM STAT- MEDLINE DCOM- 20201013 LR - 20201013 IS - 2214-3602 (Electronic) VI - 7 IP - 1 DP - 2020 TI - Friedreich's Ataxia: Case series and the Additive Value of Cardiovascular Magnetic Resonance. PG - 61-67 LID - 10.3233/JND-180373 [doi] AB - 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. FAU - Mavrogeni, Sophie AU - Mavrogeni S AD - Onassis Cardiac Surgery Center, Athens, Greece. FAU - Giannakopoulou, Aikaterini AU - Giannakopoulou A AD - First Department of Paediatrics, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, Athens, Greece. FAU - Katsalouli, Marina AU - Katsalouli M AD - First Department of Paediatrics, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, Athens, Greece. FAU - Pons, Roser Maria AU - Pons RM AD - First Department of Paediatrics, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, Athens, Greece. FAU - Papavasiliou, Antigoni AU - Papavasiliou A AD - Penteli Children's Hospital, Athens, Greece. FAU - Kolovou, Genovefa AU - Kolovou G AD - Onassis Cardiac Surgery Center, Athens, Greece. FAU - Noutsias, Michel AU - Noutsias M AD - 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. FAU - Papadopoulos, George AU - Papadopoulos G AD - First Department of Paediatrics, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, Athens, Greece. FAU - Karanasios, Evangelos AU - Karanasios E AD - First Department of Paediatrics, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, Athens, Greece. FAU - Chrousos, George P AU - Chrousos GP AD - First Department of Paediatrics, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, Athens, Greece. LA - eng PT - Case Reports PT - Journal Article PL - Netherlands TA - J Neuromuscul Dis JT - Journal of neuromuscular diseases JID - 101649948 SB - IM MH - Cardiomyopathies/*diagnosis/etiology MH - Friedreich Ataxia/complications/*diagnosis MH - Humans MH - Magnetic Resonance Imaging MH - Severity of Illness Index OTO - NOTNLM OT - Cardiovascular magnetic resonance imaging OT - Friedreich's ataxia OT - diagnosis EDAT- 2019/12/05 06:00 MHDA- 2020/10/21 06:00 CRDT- 2019/12/05 06:00 PHST- 2019/12/05 06:00 [pubmed] PHST- 2020/10/21 06:00 [medline] PHST- 2019/12/05 06:00 [entrez] AID - JND180373 [pii] AID - 10.3233/JND-180373 [doi] PST - ppublish SO - J Neuromuscul Dis. 2020;7(1):61-67. doi: 10.3233/JND-180373.