Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review

Abstract

A molecular analysis is essential to confirm the diagnosis of Friedreich's ataxia; however, an adequate cardiac evaluation, including an electrocardiogram, was extremely useful to better screening the patients which should perform these molecular analysis.

Recurrent Ventricular Tachycardia in Patient with Friedreich's Ataxia in the Absence of Clinical Myocardial Disease

“…7 Cardiac arrhythmias were detected in 50% of the fatal cases and AF occurred in 42% of them; moreover, paroxysmal atrial tachycardia occurred in 50% of cases of FA prior to death. [4][5][6][7] Our case underwent ICD implantation that improved his arrhythmia-related symptoms; however, during follow-up with device interrogation, one of the recorded events was inappropriate shock secondary to SVT-received ATP burst changing into VT. This ATP could be avoided when the wavelet was programmed on.…”

“…Notably, severe ECG abnormalities may be found in asymptomatic patients. 4 ST-T wave changes were the most common abnormality observed (56-75%). 7 Cardiac arrhythmias were detected in 50% of the fatal cases and AF occurred in 42% of them; moreover, paroxysmal atrial tachycardia occurred in 50% of cases of FA prior to death.…”

“…3 The main clinical cardiovascular manifestation is serious arrhythmia and complications related to the cardiomyopathy. 4,5 Cardiac arrhythmias may occur alone or in various combinations. Various electrocardiographic abnormalities were observed in 75-100% of patients and were more common in patients with absent tendon reflexes and extensor responses.…”

“…Various electrocardiographic abnormalities were observed in 75-100% of patients and were more common in patients with absent tendon reflexes and extensor responses. 4,6 Moreover, electrocardiographic alterations may precede neurological signs by many years. Notably, severe ECG abnormalities may be found in asymptomatic patients.…”

“…8 The main clinical indicators for myocardial involvement in FA are rhythm disturbance and myocardial dysfunction. 4 Hypertrophic cardiomyopathy is the commonest form of myocardial involvement; however, dilated cardiomyopathy has been reported in one case that required implantation of a left ventricular assistant device. 9 Cardiomyopathy associated with FA shows a variable phenotype which is not concordant with the presence of ECG abnormalities.…”