Friedreich's ataxia: cardiac evaluation of 25 patients with clinical diagnosis and literature review

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). Clinical and car...

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Bibliographic Details
Published in:Arquivos brasileiros de cardiologia 2002-05, Vol.78 (5), p.444-451
Main Authors: Albano, Lilian Maria José, Nishioka, Silvana Angelina Dório, Moysés, Regina Lucia, Wagenführ, Jaqueline, Bertola, Débora, Sugayama, Sofia Mizuho Miura, Chong, A Kim
Format: Article
Language:eng ; por
Subjects:
Adaptor Proteins, Signal Transducing
Adolescent
Cardiomyopathy, Hypertrophic - genetics
Child
Child, Preschool
Electrocardiography
Friedreich Ataxia - diagnosis
Friedreich Ataxia - genetics
Humans
Mutation
Nerve Tissue Proteins - genetics
Prospective Studies
Trinucleotide Repeat Expansion
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Summary: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). 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. 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. 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.
ISSN:0066-782X