Περίληψη:
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. © 2020 - IOS Press and the authors. All rights reserved.
Συγγραφείς:
Mavrogeni, S.
Giannakopoulou, A.
Katsalouli, M.
Pons, R.M.
Papavasiliou, A.
Kolovou, G.
Noutsias, M.
Papadopoulos, G.
Karanasios, E.
Chrousos, G.P.
Λέξεις-κλειδιά:
gadolinium; troponin T, Article; asymptomatic disease; cardiovascular magnetic resonance; case report; case study; child; clinical article; contrast enhancement; diagnostic value; disease severity; echocardiography; electrocardiogram; female; Friedreich ataxia; heart hypertrophy; heart muscle fibrosis; heart valve; heart ventricle function; heart ventricle volume; heart ventricle wall; Holter monitoring; human; male; priority journal; school child; cardiomyopathy; complication; Friedreich ataxia; nuclear magnetic resonance imaging; severity of illness index, Cardiomyopathies; Friedreich Ataxia; Humans; Magnetic Resonance Imaging; Severity of Illness Index
