Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study.
BACKGROUND
Barth syndrome (BTHS) is a rare X-linked disorder that is characterized by mitochondrial abnormalities, cardio-skeletal myopathy, exercise intolerance, and premature mortality. The effect on endurance exercise training on exercise tolerance, cardio-skeletal function, and quality of life in BTHS is unknown.


METHODS
Four young adults (23 ± 5 years, n = 4) with BTHS participated in a 12-week, supervised, individualized endurance exercise training program. Exercise training was performed on a cycle ergometer for 30-45' three times per week at a moderate intensity level. Exercise tolerance was measured by graded exercise testing and peak oxygen consumption, heart function via two-dimensional and M-mode echocardiography, skeletal muscle function by near-infrared spectroscopy, and quality of life through the Minnesota Living with Heart Failure questionnaire.


RESULTS
There were no adverse events during exercise testing or training for any participant. Peak oxygen consumption modestly (~5%) improved in three or four participants. Mean quality of life questions regarding dyspnea and side effects from medications significantly improved following exercise training. Mean resting heart function or skeletal muscle oxygen extraction during exercise did not improve after exercise training.


CONCLUSIONS
Endurance exercise training is safe and appears to modestly improve peak exercise tolerance and certain measures of quality of life in young adults with BTHS. However, compared to improvements resulting from endurance exercise training seen in other non-BTHS mitochondrial myopathies and heart failure, these improvements appear blunted. Further research into the most beneficial mode, intensity and frequency of exercise training in BTHS is warranted.
Program in Physical Therapy, Washington University School of Medicine, Box 8502, St. Louis, MO, 63108, USA. tcade@wustl.edu.
W Todd
WT
Cade
Division of Geriatrics and Nutritional Sciences, Department of Medicine, Washington University School of Medicine, St. Louis, MO, 63108, USA.
Dominic N
DN
Reeds
Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St. Louis, MO, 63108, USA.
Linda R
LR
Peterson
Program in Physical Therapy, Washington University School of Medicine, Box 8502, St. Louis, MO, 63108, USA.
Kathryn L
KL
Bohnert
Program in Physical Therapy, Washington University School of Medicine, Box 8502, St. Louis, MO, 63108, USA.
Rachel A
RA
Tinius
CAS Medical Systems, Inc., Branford, CT, 06405, USA.
Paul B
PB
Benni
Departments of Pediatrics, Molecular Genetics and Microbiology, University of Florida, Gainesville, FL, 32611, USA.
Barry J
BJ
Byrne
Division of Pediatric Cardiology, Medical University of South Carolina, Charleston, SC, 29412, USA.
Carolyn L
CL
Taylor