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

OBJECTIVE - Cardiac evaluation (clinical, electrocardiographic and echocardiographic) of 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia (FA) related to the frequency and the size of GAA repeats (unstable expansion of trinucleotide repeats that results in the disease). METHODS - Clinical and cardiac study including electrocardiogram and echocardiogram of all patients and molecular analysis to detect the frequency and the size of GAA expansion, by polymerase chain reaction analysis. RESULTS - Homozygous GAA expansion was detected in 17 patients (68%) -- all typical cases. In 8 (32%) cases (6 atypical and 2 typical), no GAA expansion was observed, therefore it was not considered Friedreich's ataxia. All patients with GAA expansion (100%) had electrocardiographic abnormalities, and only 25% of the cases without GAA expansion had some abnormality on this exam. However, only 6% of all patients revealed some signals/symptoms suggestive of cardiac involvement. CONCLUSION - 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.

Cardiac Damage from Chronic Use of Chloroquine: A Case Report and Review of the Literature

Chloroquine has been widely used in rheumatological treatment, but potential severe side effects require careful follow-up. Cardiac damage is not a common consequence, but its clinical relevance has not yet been described. We report the case of a 58-year-old woman with rheumatoid arthritis, in whom chronic chloroquine use resulted in major irreversible cardiac damage. She presented with syncopal episodes due to complete atrioventricular block confirmed by electrophysiological study whose changes were concluded to be irreversible and a permanent pacemaker was indicated. Endomyocardial biopsy was also performed to search for histopathological and ultrastructural cardiac damage. We also reviewed the 22 cases of chloroquine-induced cardiopathy described to date as well as its pathophysiology.

Monthly Magazine or British Register (of Politics, Literature and the Belles Lettres)

2 (New Series)

Monthly Magazine or British Register (of Politics, Literature and the Belles Lettres)

14 (New Series)

Quarterly Journal of Science, Literature and the Arts.

20

Quarterly Journal of Science, Literature and the Arts.

1827 (July - Dec.)

Monthly Magazine or British Register (of Politics, Literature and the Belles Lettres)

4 (New Series)

Monthly Magazine or British Register (of Politics, Literature and the Belles Lettres)

13 (New Series)

Monthly Magazine or British Register (of Politics, Literature and the Belles Lettres)

15 (New Series)

Monthly Magazine or British Register (of Politics, Literature and the Belles Lettres)

18 (New Series)

Monthly Magazine or British Register (of Politics, Literature and the Belles Lettres)

10 (New Series)

Quarterly Journal of Science, Literature and the Arts.

Index

Monthly Magazine or British Register (of Politics, Literature and the Belles Lettres)

22 (New Series)