Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia

Roger E Peverill, Lesley Donelan, Louise A Corben and Martin B Delatycki

PLOS ONE, 2018, vol. 13, issue 12, 1-14

Abstract: Background: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative condition which also has effects on the heart. In 96% of affected individuals FRDA is due to homozygosity of a GAA repeat expansion in intron 1 of the frataxin (FXN) gene. The number of GAA repeats have been shown to relate to disease severity in FRDA, this thought to be via an inverse relationship of GAA repeat number and cellular frataxin levels. We investigated the effects of FRDA on regional long axis function of the left and right ventricles, and also the relationship of long axis systolic (s`) and early diastolic (e`) peak velocities with GAA repeat number on the shorter (GAA1) and longer FXN alleles (GAA2). Methods: The study group of 78 adult subjects (age 32±9 years) with FRDA and normal left ventricular (LV) ejection fraction were compared to 54 healthy control subjects of similar age, sex and body size. Tissue Doppler imaging (TDI) signals were recorded at the mitral annulus for measurement of s`and e`of the septal, lateral, anterior and inferior walls and at the tricuspid annulus for measurement of right ventricular (RV) s`and e`. Results: All the regional LV s`and e`, and both RV s`and RV e`, were lower in individuals with FRDA compared to controls (p

Date: 2018
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Persistent link: https://EconPapers.repec.org/RePEc:plo:pone00:0209410

DOI: 10.1371/journal.pone.0209410

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