Cardiomyopathy as the first manifestation of Friedreichs ataxia
Autops. Case Rep
; 10(3): e2020204, 2020. graf
Article
en En
| LILACS
| ID: biblio-1131831
Biblioteca responsable:
BR26.7
ABSTRACT
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, muscle clonus, and Babinski's signal. At age 27, she had a stroke and was hospitalized; a few days later, she had a cardiorespiratory arrest with asystole, leading to death. The autopsy disclosed severe cardiomyopathy and significant myocardial replacement with fibrosis; therefore, the cause of death was assumed to be heart failure. Compared to the literature, our case has some unique features, such as cardiac disease as the presenting manifestation instead of gait instability, which is the major initial sign in most FA cases. Since our patient was submitted to an autopsy, it was an opportunity to retrieve important data to confirm the diagnosis and to evaluate the pathophysiology of this entity, such as myocardium fibrosis and cerebellar degeneration. In summary, our case demonstrates that cardiac disease can be the first manifestation of FA, with eventual diagnostic and prognostic implications. In addition, the autopsy provided findings of severe cardiomyopathy associated with FA.
Palabras clave
Texto completo:
1
Bases de datos:
LILACS
Asunto principal:
Ataxia de Friedreich
/
Cardiopatías
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Autops. Case Rep
/
Autopsy and Case Reports
Asunto de la revista:
Anatomia
/
Patologia Cl¡nica
/
Patologia Legal
Año:
2020
Tipo del documento:
Article
País de afiliación:
Brasil