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3. Diagnosis and Management of Cardiovascular Involvement in Friedreich Ataxia

Author

Martina Caiazza, Adelaide Fusco, Silvia Passantino, Francesco Di Fraia, Alfredo Mauriello, Federica Amodio, Annapaola Cirillo, Michele Lioncino, Francesco Natale, Silvia Favilli, Fabio Fimiani, Giuseppe Limongelli, Federica Verrillo, Nunzia Borrelli, Emanuele Monda, Marta Rubino, Francesca Girolami, Gioacchino Scarano, Monda, E., Lioncino, M., Rubino, M., Passantino, S., Verrillo, F., Caiazza, M., Cirillo, A., Fusco, A., Di Fraia, F., Fimiani, F., Amodio, F., Borrelli, N., Mauriello, A., Natale, F., Scarano, G., Girolami, F., Favilli, S., and Limongelli, G.

Subjects
medicine.medical_specialty, Ataxia, Cardiomyopathy, Left ventricular hypertrophy, Asymptomatic, Ventricular Function, Left, Internal medicine, Humans, Medicine, Ejection fraction, biology, business.industry, Hypertrophic cardiomyopathy, Stroke Volume, General Medicine, medicine.disease, Friedreich ataxia, Heart failure, Frataxin, biology.protein, Cardiology, Therapy, medicine.symptom, Cardiomyopathies, Trinucleotide Repeat Expansion, Cardiology and Cardiovascular Medicine, business, Diagnosi
Abstract

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a homozygous GAA triplet repeat expansion in the frataxin gene. Cardiac involvement, usually manifesting as hypertrophic cardiomyopathy, can range from asymptomatic cases to severe cardiomyopathy with progressive deterioration of the left ventricular ejection fraction and chronic heart failure. The management of cardiac involvement is directed to prevent disease progression and cardiovascular complications. However, direct-disease therapies are not currently available for FRDA. The present review aims to describe the current state of knowledge regarding cardiovascular involvement of FRDA, focusing on clinical-instrumental features and management of cardiac manifestation.

Published
2022

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