Friedreich’s Ataxia: Case series and the Additive Value of Cardiovascular Magnetic Resonance
| Autor: | Michel Noutsias, Roser Pons, Aikaterini Giannakopoulou, Evangelos Karanasios, George P. Chrousos, Genovefa Kolovou, Antigoni Papavasiliou, George Papadopoulos, Sophie Mavrogeni, Marina Katsalouli |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Ataxia Cardiomyopathy Severity of Illness Index Asymptomatic Muscle hypertrophy 03 medical and health sciences 0302 clinical medicine Fibrosis Internal medicine medicine Humans cardiovascular diseases Ejection fraction medicine.diagnostic_test business.industry Magnetic resonance imaging medicine.disease Magnetic Resonance Imaging 030104 developmental biology Neurology Friedreich Ataxia cardiovascular system Cardiology Myocardial fibrosis Neurology (clinical) medicine.symptom Cardiomyopathies business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Neuromuscular Diseases. 7:61-67 |
| ISSN: | 2214-3602 2214-3599 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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