Early changes in left ventricular long-axis function in Friedreich ataxia: relation with the FXN gene mutation and cardiac structural change.

doi:10.1016/j.echo.2011.04.004

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Early changes in left ventricular long-axis function in Friedreich ataxia: relation with the FXN gene mutation and cardiac structural change.

Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography - 1 Jul 2011

Mottram Philip M, Delatycki Martin B, Donelan Lesley, Gelman John S, Corben Louise, Peverill Roger E

Abstract excerpt

OBJECTIVE: Friedreich ataxia (FRDA) is an autosomal recessive condition due to a GAA triplet expansion in the FXN gene that causes increased left ventricular (LV) wall thickness and can progress to LV systolic dysfunction. However, the changes in myocardial function that occur before a reduction in LV ejection fraction are incompletely understood. METHODS: LV long-axis function was assessed by measurement of...

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Early changes in left ventricular long-axis function in Friedreich ataxia: relation with the FXN gene mutation and cardiac structural change.

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