Abstract
In this report we describe a female Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) patient who suffered from severe exercise intolerance. At age 34, the patient became pregnant for the first time. After an uneventful first 32 weeks of pregnancy she developed sinus tachycardia (resting heart rate 120–134 bpm) and lactate and creatinine kinase levels increased (3.3 mmol/L and 264 U/L, respectively). Increasing MCT supplementation (dose and frequency of administration) lowered heart rate and improved biochemical parameters. At 34 weeks the heart rate rose again and it was decided to deliver the child by caesarean section. Postpartum both mother and child did well.
Prior to pregnancy, she performed exercise tests with different doses of medium chain triglycerides (MCTs) to establish a safe and effective exercise program (baseline test, second test with 10 g MCTs and third test with 20 g of MCTs). In the MCT supplemented tests the maximal power output was 23% (second test) and 26% (third test) higher, while cardiac output at maximal power output was the same in all three tests (~15.8 L/min).
In conclusion, this is the first report of pregnancy in an LCHADD patient, with favourable outcome for both mother and child. Moreover, in the same patient, MCT supplementation improved cardiac performance and metabolic parameters during high intensity exercise. Using impedance cardiography, we got a clear indication that this benefit was due to improved muscle energy generation at high intensity exercise, since at the same cardiac output a higher power output could be generated.
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Communicated by: Niels Gregersen
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Take Home Message
This report describes the first documented pregnancy in an LCHADD patient, with favourable outcome for both mother and child.
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D.C.D. van Eerd, M. Langeveld, I.A. Brussé, V.F.R. Adriaens, R.T. Mankowski, S.F.E. Praet and M. Michels declare that they have no conflict of interest.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (Medical Ethics Committee Erasmus MC) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from the patient described in this case report.
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Data collection: DCDvE, RTM, SFEP and MM; analysis and interpretation of the data: DCDvE, IAB, RTM, SFEP, MM and ML; drafting the article: DCDvE, IAB,VFRA, RTM and ML; critically revising the article: SFEP
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van Eerd, D.C.D. et al. (2016). Management of an LCHADD Patient During Pregnancy and High Intensity Exercise. 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_561
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DOI: https://doi.org/10.1007/8904_2016_561
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