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HIPERTROFIAS MIOCÁRDICAS NA ATAXIA DE FREIDREICH
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A Ataxia de Friedreich é uma ataxia autossômica recessiva em que há envolvimento do sistema nervoso periférico, do sistema nervoso central e cardíaco. Este último ocorre em 2/3 dos doentes e é caracterizado pela presença de hipertrofia ventricular concêntrica. Objetivou-se neste trabalho apresentar o caso clínico de um paciente masculino, 18 anos, que procura ajuda médica com queixa de vertigem e perda de equilíbrio, associado à dispneia aos esforços extra-habituais. Ao ecocardiograma, evidenciada acentuada hipertrofia simétrica de ventrículo esquerdo. Teste genético confirmou positividade para Ataxia de Friedreich, esta então associada a cardiomiopatia hipertrófica, alvo de discussão neste relato de caso
Revista da Sociedade de Cardiologia do Estado de Sao Paulo
Title: HIPERTROFIAS MIOCÁRDICAS NA ATAXIA DE FREIDREICH
Description:
A Ataxia de Friedreich é uma ataxia autossômica recessiva em que há envolvimento do sistema nervoso periférico, do sistema nervoso central e cardíaco.
Este último ocorre em 2/3 dos doentes e é caracterizado pela presença de hipertrofia ventricular concêntrica.
Objetivou-se neste trabalho apresentar o caso clínico de um paciente masculino, 18 anos, que procura ajuda médica com queixa de vertigem e perda de equilíbrio, associado à dispneia aos esforços extra-habituais.
Ao ecocardiograma, evidenciada acentuada hipertrofia simétrica de ventrículo esquerdo.
Teste genético confirmou positividade para Ataxia de Friedreich, esta então associada a cardiomiopatia hipertrófica, alvo de discussão neste relato de caso.
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