van Eerd D C D, Brussé I A, Adriaens V F R, Mankowski R T, Praet S F E, Michels M, Langeveld M
Center for Lysosomal and Metabolic Disease, Erasmus University Medical Center, 's Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands.
Department of Obstetrics and Gynaecology, Erasmus University Medical Center, Rotterdam, The Netherlands.
JIMD Rep. 2017;32:95-100. doi: 10.1007/8904_2016_561. Epub 2016 Jun 23.
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.
在本报告中，我们描述了一名患有严重运动不耐受的女性长链3-羟基酰基辅酶A脱氢酶缺乏症（LCHADD）患者。34岁时，该患者首次怀孕。怀孕的前32周一切顺利，但之后她出现了窦性心动过速（静息心率120 - 134次/分钟），乳酸和肌酸激酶水平升高（分别为3.3 mmol/L和264 U/L）。增加中链甘油三酯（MCT）补充剂的剂量和给药频率可降低心率并改善生化指标。34周时心率再次上升，于是决定剖宫产分娩。产后母婴情况良好。怀孕前，她进行了不同剂量中链甘油三酯（MCT）的运动测试，以制定安全有效的运动方案（基线测试、10克MCT的第二次测试和20克MCT的第三次测试）。在补充MCT的测试中，最大功率输出分别提高了23%（第二次测试）和26%（第三次测试），而在所有三次测试中，最大功率输出时的心输出量相同（约15.8升/分钟）。总之，这是关于LCHADD患者怀孕的首例报告，母婴结局良好。此外，在同一患者中，补充MCT可改善高强度运动期间的心脏功能和代谢参数。通过阻抗心动图，我们明确发现这种益处是由于高强度运动时肌肉能量生成改善所致，因为在相同的心输出量下可以产生更高的功率输出。
