title: Friedreich's ataxia: cardiac evaluation of 25 patients with clinical diagnosis and literature review.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Child's Institute, Hospital das Clínicas, FMUSP.
authors.forename: Lilian Maria José
authors.initials: LM
authors.lastname: Albano
authors.forename: Silvana Angelina Dório
authors.initials: SA
authors.lastname: Nishioka
authors.forename: Regina Lucia
authors.initials: RL
authors.lastname: Moysés
authors.forename: Jaqueline
authors.initials: J
authors.lastname: Wagenführ
authors.forename: Débora
authors.initials: D
authors.lastname: Bertola
authors.forename: Sofia Mizuho Miura
authors.initials: SM
authors.lastname: Sugayama
authors.forename: A Kim
authors.initials: AK
authors.lastname: Chong
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000293:Adolescent; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004562:Electrocardiography; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D011446:Prospective Studies; D019680:Trinucleotide Repeat Expansion
chemical_list: C079091:APBA1 protein, human; D048868:Adaptor Proteins, Signal Transducing; D009419:Nerve Tissue Proteins