Left ventricular structural and functional changes in Friedreich ataxia - Relationship with body size, sex, age and genetic severity.

ABSTRACT: INTRODUCTION:Although a concentric pattern of left ventricular (LV) geometry appears to be common in Friedreich ataxia (FRDA), there is no accepted method for diagnosing LV abnormalities in FRDA, sex and body size have often not been taken into consideration, and it has not been clear whether children and adults should be classified using the same criteria. The aim of this study was to better define the LV geometric changes in FRDA with respect to sex, body size and subject age, and to investigate the relationship of LV changes with genetic severity, as assessed by GAA repeat length within the shorter allele of the FXN gene (GAA1). METHODS:Echocardiography was performed in 216 subjects (68 children, 148 adults), measurements were made at end-diastole of LV internal diameter (LVEDID), septa

SUBMITTER: Peverill RE 

PROVIDER: S-EPMC6853335 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature