Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review
Autor(a) principal: | |
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Data de Publicação: | 2002 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos Brasileiros de Cardiologia (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2002000500002 |
Resumo: | 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. |
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Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature ReviewFriedreich's ataxiacardiac abnormalitieshypertrophic cardiomyopathyOBJECTIVE - 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.Sociedade Brasileira de Cardiologia - SBC2002-05-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2002000500002Arquivos Brasileiros de Cardiologia v.78 n.5 2002reponame:Arquivos Brasileiros de Cardiologia (Online)instname:Sociedade Brasileira de Cardiologia (SBC)instacron:SBC10.1590/S0066-782X2002000500002info:eu-repo/semantics/openAccessAlbano,Lilian Maria JoséNishioka,Silvana Angelina DórioMoysés,Regina LuciaWagenführ,JaquelineBertola,DéboraSugayama,Sofia Mizuho MiuraChong,A. Kimeng2002-08-13T00:00:00Zoai:scielo:S0066-782X2002000500002Revistahttp://www.arquivosonline.com.br/https://old.scielo.br/oai/scielo-oai.php||arquivos@cardiol.br1678-41700066-782Xopendoar:2002-08-13T00:00Arquivos Brasileiros de Cardiologia (Online) - Sociedade Brasileira de Cardiologia (SBC)false |
dc.title.none.fl_str_mv |
Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review |
title |
Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review |
spellingShingle |
Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review Albano,Lilian Maria José Friedreich's ataxia cardiac abnormalities hypertrophic cardiomyopathy |
title_short |
Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review |
title_full |
Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review |
title_fullStr |
Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review |
title_full_unstemmed |
Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review |
title_sort |
Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review |
author |
Albano,Lilian Maria José |
author_facet |
Albano,Lilian Maria José Nishioka,Silvana Angelina Dório Moysés,Regina Lucia Wagenführ,Jaqueline Bertola,Débora Sugayama,Sofia Mizuho Miura Chong,A. Kim |
author_role |
author |
author2 |
Nishioka,Silvana Angelina Dório Moysés,Regina Lucia Wagenführ,Jaqueline Bertola,Débora Sugayama,Sofia Mizuho Miura Chong,A. Kim |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Albano,Lilian Maria José Nishioka,Silvana Angelina Dório Moysés,Regina Lucia Wagenführ,Jaqueline Bertola,Débora Sugayama,Sofia Mizuho Miura Chong,A. Kim |
dc.subject.por.fl_str_mv |
Friedreich's ataxia cardiac abnormalities hypertrophic cardiomyopathy |
topic |
Friedreich's ataxia cardiac abnormalities hypertrophic cardiomyopathy |
description |
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. |
publishDate |
2002 |
dc.date.none.fl_str_mv |
2002-05-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2002000500002 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2002000500002 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0066-782X2002000500002 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Cardiologia - SBC |
publisher.none.fl_str_mv |
Sociedade Brasileira de Cardiologia - SBC |
dc.source.none.fl_str_mv |
Arquivos Brasileiros de Cardiologia v.78 n.5 2002 reponame:Arquivos Brasileiros de Cardiologia (Online) instname:Sociedade Brasileira de Cardiologia (SBC) instacron:SBC |
instname_str |
Sociedade Brasileira de Cardiologia (SBC) |
instacron_str |
SBC |
institution |
SBC |
reponame_str |
Arquivos Brasileiros de Cardiologia (Online) |
collection |
Arquivos Brasileiros de Cardiologia (Online) |
repository.name.fl_str_mv |
Arquivos Brasileiros de Cardiologia (Online) - Sociedade Brasileira de Cardiologia (SBC) |
repository.mail.fl_str_mv |
||arquivos@cardiol.br |
_version_ |
1752126552097685504 |