Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome

• DOI: 10.14814/phy2.13130
• Publication Date: 2017-02-15T01:10:20Z
• Authors: Adil Bashir; Kathryn L. Bohnert; Dominic N. Reeds; Linda R. Peterson; Adam J. Bittel; Lisa de las Fuentes; Christina A. Pacak; Barry J. Byrne; W. Todd Cade
• Keywords: Bioenergetics

Abstract Barth syndrome ( BTHS ) is an X‐linked condition characterized by altered cardiolipin metabolism and cardioskeletal myopathy. We sought to compare cardiac skeletal muscle bioenergetics in children, adolescents, young adults with unaffected controls examine their relationships function exercise capacity. Children/adolescents n = 20) children/adolescent adult control participants 23, total 43) underwent 31 P magnetic resonance spectroscopy P‐ MRS of the lower extremity (calf) heart for estimation bioenergetics. Peak testing VO 2peak resting echocardiography were also performed on all participants. Cardiac PC r/ ATP ratio was significantly children/adolescents : 1.5 ± 0.2 vs. Control: 2.0 0.3, < 0.01) 1.9 2.3 0.2, compared Control groups. Adults 76.4 31.6 35.0 7.4 sec, 71.5 21.3 31.4 had longer calf r recovery τ r) postexercise controls. Maximal production through oxidative phosphorylation (Qmax‐lin) 0.5 0.1 1.1 0.3 mmol/L per 1.0 Blunted associated V O but not function. are impaired appear contribute intolerance BTHS.