Cardiomyopathy in patients with Friedreich's ataxia - appearance and diagnostic value

Journal of Clinical and Basic Cardiology 2000; 3 (3): 167-171

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Keywords: Friedreich-Ataxie,  hypertrophe Kardiomyopathie,  Friedreich ataxia,  hypertrophic cardiomyopathy

Among the heredoataxias which appear partially similar, Friedreich's ataxia (FA) attracts attention because of concomitant hypertrophic cardiomyopathy (HCM) which decreases life expectancy of FA patients explicitly despite moderate clinical symptoms. Single cases of sudden cardiac death are described. This prospective study faces the appearance of HCM in FA-patients including rhythmologic features and its diagnostic value in separating FA and non-Friedreich heredoatactic patients (NFA). 22 FA patients, 28 non-Friedreich heredoatactic patients and 22 healthy controls were compared using their history, 12-channel electrocardiograms (ECG), Holter monitoring, signal-averaged electrocardiograms as well as their echocardiographic results. Dyspnoea and chest pain were present in nearly every third FA patient, hardly in NFA patients. Abnormalities according to ECG were far more significant in the FA group with a proportion of 86 % (19 of 22) abnormal ECGs in contrast to both other groups. Almost all abnormal ECGs of FA patients revealed typically ST-T inversions in the inferior limb and lateral precordial leads. Regarding all three groups ventricular late potentials in signal-averaged electrocardiograms occured with normal incidence. Echocardiography offered strict differences in mean left ventricular wall thickness (p < 0.0001) - FA group with 11.3 mm against the NFA group with 9.1 mm and control group with 8.7 mm. 64 % of the FA patients and no one from the other study groups presented concentric non-obstructive HCM. Standard ECG and echocardiography seem to be sufficient methods to differentiate Friedreich's ataxia from other heredoataxias phenotypically, in two out of three FA patients concentric HCM could be proven by heart ultrasonography. Meanwhile ventricular late potentials as a sign of extended danger of ventricular arrhythmia appear in normal frequencies. J Clin Basic Cardiol 2000; 3: 167-171.