Abstract
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.
Conclusion: 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.
Competing interests: None declared
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References
Adamopoulos S, Parissis J, Karatzas D et al (2002) Physical training modulates proinflammatory cytokines and the soluble Fas/soluble Fas ligand system in patients with chronic heart failure. J Am Coll Cardiol 39:653–663
American College of Sports Medicine (1998) American College of Sports Medicine Position Stand. The recommended quantity and quality of exercise for developing and maintaining cardiorespiratory and muscular fitness, and flexibility in healthy adults. Med Sci Sports Exerc 30:975–991
Barth PG, Scholte HR, Berden JA et al (1983) An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 62:327–355
Bartlo P (2007) Evidence-based application of aerobic and resistance training in patients with congestive heart failure. J Cardiopulm Rehabil Prev 27:368–375
Belardinelli R, Georgiou D, Cianci G, Purcaro A (1999) Randomized, controlled trial of long-term moderate exercise training in chronic heart failure: effects on functional capacity, quality of life, and clinical outcome. Circulation 99:1173–1182
Bongaerts GP, Wagener DJ (2007) Increased hepatic gluconeogenesis: the secret of Lance Armstrong’s success. Med Hypotheses 68:9–11
Cejudo P, Bautista J, Montemayor T et al (2005) Exercise training in mitochondrial myopathy: a randomized controlled trial. Muscle Nerve 32:342–350
Chen YM, Li ZB, Zhu M, Cao YM (2012) Effects of exercise training on left ventricular remodelling in heart failure patients: an updated meta-analysis of randomised controlled trials. Int J Clin Pract 66:782–791
Coats AJ, Adamopoulos S, Radaelli A et al (1992) Controlled trial of physical training in chronic heart failure. Exercise performance, hemodynamics, ventilation, and autonomic function. Circulation 85:2119–2131
Conraads VM, Beckers P, Vaes J et al (2004) Combined endurance/resistance training reduces NT-proBNP levels in patients with chronic heart failure. Eur Heart J 25:1797–1805
Delagardelle C, Feiereisen P, Autier P, Shita R, Krecke R, Beissel J (2002) Strength/endurance training versus endurance training in congestive heart failure. Med Sci Sports Exerc 34:1868–1872
DeLorey DS, Kowalchuk JM, Paterson DH (2003) Relationship between pulmonary O2 uptake kinetics and muscle deoxygenation during moderate-intensity exercise. J Appl Physiol 95:113–120
Finsterer J, Kothari S (2014) Cardiac manifestations of primary mitochondrial disorders. Int J Cardiol 177:754–763
Giannuzzi P, Temporelli PL, Corra U, Tavazzi L (2003) Antiremodeling effect of long-term exercise training in patients with stable chronic heart failure: results of the Exercise in Left Ventricular Dysfunction and Chronic Heart Failure (ELVD-CHF) Trial. Circulation 108:554–559
Grassi B, Pogliaghi S, Rampichini S et al (2003) Muscle oxygenation and pulmonary gas exchange kinetics during cycling exercise on-transitions in humans. J Appl Physiol 95:149–158
Hambrecht R, Fiehn E, Yu J et al (1997) Effects of endurance training on mitochondrial ultrastructure and fiber type distribution in skeletal muscle of patients with stable chronic heart failure. J Am Coll Cardiol 29:1067–1073
Hambrecht R, Fiehn E, Weigl C et al (1998) Regular physical exercise corrects endothelial dysfunction and improves exercise capacity in patients with chronic heart failure. Circulation 98:2709–2715
Iwasaki K, Zhang R, Zuckerman JH, Levine BD (2003) Dose–response relationship of the cardiovascular adaptation to endurance training in healthy adults: how much training for what benefit? J Appl Physiol 95:1575–1583
Jeppesen TD, Schwartz M, Olsen DB et al (2006) Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy. Brain 129:3402–3412
Jeppesen TD, Duno M, Schwartz M et al (2009) Short- and long-term effects of endurance training in patients with mitochondrial myopathy. Eur J Neurol 16:1336–1339
Minotti JR, Johnson EC, Hudson TL et al (1990) Skeletal muscle response to exercise training in congestive heart failure. J Clin Invest 86:751–758
Myers J, Prakash M, Froelicher V, Do D, Partington S, Atwood JE (2002) Exercise capacity and mortality among men referred for exercise testing. N Engl J Med 346:793–801
Nir A, Bar-Oz B, Perles Z, Brooks R, Korach A, Rein AJ (2004) N-terminal pro-B-type natriuretic peptide: reference plasma levels from birth to adolescence. Elevated levels at birth and in infants and children with heart diseases. Acta Paediatr 93:603–607
Rector TS, Kubo SH, Cohn JN (1993) Validity of the Minnesota Living with Heart Failure questionnaire as a measure of therapeutic response to enalapril or placebo. Am J Cardiol 71:1106–1107
Rector TS, Bank AJ, Mullen KA et al (1996) Randomized, double-blind, placebo-controlled study of supplemental oral L-arginine in patients with heart failure. Circulation 93:2135–2141
Scharhag-Rosenberger F, Meyer T, Walitzek S, Kindermann W (2009) Time course of changes in endurance capacity: a 1-yr training study. Med Sci Sports Exerc 41:1130–1137
Spencer CT, Bryant RM, Day J et al (2006) Cardiac and clinical phenotype in Barth syndrome. Pediatrics 118:e337–e346
Spencer CT, Byrne BJ, Bryant RM et al (2011) Impaired cardiac reserve and severely diminished skeletal muscle O(2) utilization mediate exercise intolerance in Barth syndrome. Am J Physiol Heart Circ Physiol 301:H2122–H2129
Sullivan MJ, Higginbotham MB, Cobb FR (1988) Exercise training in patients with severe left ventricular dysfunction. Hemodynamic and metabolic effects. Circulation 78:506–515
Taivassalo T, Shoubridge EA, Chen J et al (2001) Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects. Ann Neurol 50:133–141
Taylor RS, Sagar VA, Davies EJ et al (2014) Exercise-based rehabilitation for heart failure. Cochrane Database Syst Rev 4:CD003331
Tyni-Lenne R, Gordon A, Sylven C (1996) Improved quality of life in chronic heart failure patients following local endurance training with leg muscles. J Card Fail 2:111–117
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Communicated by: Michael J Bennett, PhD
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Endurance exercise training is safe and appears to modestly improve exercise tolerance and certain measures of quality of life in young adults with BTHS.
W. Todd Cade, Dominic Reeds, Linda Peterson, Kathryn Bohnert, Rachel Tinius, Paul Benni, Barry Byrne, and Carolyn Taylor declare that they have no conflict of interest.
Author Contributions
WTC planned the study, performed the study, analyzed the data, wrote the manuscript.
DNR performed the studies, wrote the manuscript.
LRP performed the studies, wrote the manuscript.
KLB performed the studies, wrote the manuscript.
RAT performed the studies, wrote the manuscript.
PBB analyzed the data, wrote the manuscript.
BJB planned the study, wrote the manuscript.
CLT planned the study, analyzed the data, wrote the manuscript.
Funding
This project was supported by the Barth Syndrome Foundation and by the National Institutes of Health grants: Institute of Clinical and Translational Sciences (UL1 RR024992), Diabetes Research and Training Center (DK-020579), and Nutrition-Obesity Research Center (DK-056341) from the National Center for Research Resources (NCRR) and NIH Roadmap for Medical Research. Its contents are solely the responsibility of the authors and do not necessarily represent the official view of NIH or its Institutes.
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Cade, W.T. et al. (2016). Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 32. JIMD Reports, vol 32. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2016_553
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DOI: https://doi.org/10.1007/8904_2016_553
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