Friedreich's ataxia (FA) is an hereditary degenerative disease involving the spino-cerebellar via which in 10-15% of the cases is associated with symptomatic cardiac disease. Abnormal ECG or ECHO finding are present even in absence of cardiac symptoms in 100% of the patients. A 7 y.o. girl with the clinical picture of FA with cardiac involvement is presented. The features of the cardiomyopathy present in FA studied with ECHO, myocardial perfusion with Thallium 201 and with histologic examination and its relationship with the hypertrophic cardiomyopathy are discussed. Different theories aiming to discover a unique biochemical factor responsible of both the neurological and cardiac disorders are presented.
Cardiomyopathy in Friedreich's ataxia [La cardiomiopatia nella atassia di Friedreich.] / F., Sellitto; Petretta, Mario; G., Guidan; U., Squarcia; A. A. g. n. e. t. t., I.. - In: PEDIATRIA MEDICA E CHIRURGICA. - ISSN 0391-5387. - STAMPA. - 8:(1986), pp. 163-167.
Cardiomyopathy in Friedreich's ataxia [La cardiomiopatia nella atassia di Friedreich.]
PETRETTA, MARIO;
1986
Abstract
Friedreich's ataxia (FA) is an hereditary degenerative disease involving the spino-cerebellar via which in 10-15% of the cases is associated with symptomatic cardiac disease. Abnormal ECG or ECHO finding are present even in absence of cardiac symptoms in 100% of the patients. A 7 y.o. girl with the clinical picture of FA with cardiac involvement is presented. The features of the cardiomyopathy present in FA studied with ECHO, myocardial perfusion with Thallium 201 and with histologic examination and its relationship with the hypertrophic cardiomyopathy are discussed. Different theories aiming to discover a unique biochemical factor responsible of both the neurological and cardiac disorders are presented.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
