Cardiomyopathy as the first manifestation of Friedreich's ataxia

• 主要な著者: Rafael Tuzino Leite Neves Maffei (著者), Giulio de los Santos Fortuna (著者), Luca Campolino Rosso (著者), Pedro Dragone Pires (著者), Ivan Rondelli (著者)
• フォーマット: 図書
• 出版事項: University of São Paulo, 2021-08-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

We present the case of a female patient diagnosed in childhood with Friedreich Ataxia (FA). At the age of 6, she developed left congestive heart failure with cardiomyopathy, as evident on echocardiogram. Neurologic signs only appeared at age 7, including marked loss of muscle mass, gait instability,...