Frequency of Cardiovascular Involvement in XXXX in Brazilian @entity1 .

@entity1 @entity305 @entity854 @entity717 @entity65
BACKGROUND: @entity305 ( @entity305 ) is a rare disease diagnosed in Brazil and worldwide. The frequency of @entity65 in Brazilian @entity305 @entity1 is unknown. OBJECTIVE: Detect the frequency of @entity65 and correlate the cardiovascular findings with the modified @entity717 ( @entity717 ) score. METHODS: In a national reference center, 51 @entity1 were evaluated with clinical examination, electrocardiography (ECG), echocardiography (ECHO), and 24-hour Holter. @entity1 were classified according to the modified @entity717 score and divided into groups: @entity717 0, @entity717 I, @entity717 II, and @entity717 > II (which included @entity717 IIIa, IIIb, and IV). We chose the classification tree as the statistical method to analyze the association between findings in cardiac tests with the neurological classification ( @entity717 ). RESULTS: ECG abnormalities were present in almost 2/3 of the @entity305 @entity1 , whereas @entity854 occurred in around 1/3 of them. All @entity1 with abnormal ECHO also had abnormal ECG, but the opposite did not apply. The classification tree identified ECG and ECHO as relevant variables (p < 0.001 and p = 0.08, respectively). The probability of a @entity1 to be allocated to the @entity717 0 group when having a normal ECG was over 80%. When both ECG and ECHO were abnormal, this probability was null. CONCLUSIONS: Brazilian @entity1 with @entity305 have frequent ECG abnormalities. ECG is an appropriate test to discriminate asymptomatic carriers of the mutation from those who develop the disease, whereas ECHO contributes to this discrimination.
