Multi-disciplinary team of the treatment of heart transplantation for Danon disease
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摘要:
目的 通过多学科综合诊疗（MDT）模式提高对Danon病的认识及心脏移植手术治疗的效果。 方法 对1例极为罕见的X染色体显性遗传病——Danon病患者进行心脏移植术前MDT讨论，包括心脏移植手术适应证、术前准备及术后注意事项，并总结MDT在Danon病治疗中的作用。 结果 术前超声心动检查发现患者处于肥厚型心肌病扩张期，全心衰竭，考虑Danon病终末期心力衰竭。经MDT讨论，术前抗心力衰竭、降低肺动脉压力、主动脉内球囊反搏（IABP）辅助、护肝、加强营养支持等治疗，等待合适供者后行原位心脏移植术，患者术后5 d出现四肢肌无力表现，减少糖皮质激素剂量后肌力逐渐恢复，术后48 d出院，出院时情况良好，出院后继续给予三联免疫抑制方案治疗。患者术后6个月复查情况良好，心电图、超声心动图未见异常。 结论 Danon病相当罕见，通过MDT模式可提高心脏移植手术治疗的有效性及安全性。 -
关键词:
- Danon病 /
- 多学科综合诊疗（MDT） /
- 原位心脏移植术 /
- 溶酶体相关膜蛋白2 /
- 肥厚型心肌病 /
- 心力衰竭 /
- 预激综合征 /
- 主动脉内球囊反搏（IABP）
Abstract:Objective To improve the understanding of Danon disease and the efficacy of heart transplantation by multi-disciplinary team (MDT) pattern. Methods Prior to heart transplantation, MDT consultation was performed on one case of Danon disease, an extremely rare X-chromosome dominant genetic disease. The content of consultation included surgical indication, preoperative preparation and postoperative precaution, as well as the role of MDT in the treatment of Danon disease was summarized. Results Preoperative echocardiography showed that the patient presented withdilated-phase of hypertrophic cardiomyopathy complicated with heart failure, which was considered as Danon disease with end-stage heart failure. After MDT consultation, the patient received the preoperative treatment including anti-heart failure, reduction of pulmonary artery pressure, intra-aortic balloon pump (IABP) assistance, liver protection, strengthening nutritional support, etc. The patient underwent orthotopic heart transplantation after a suitable donor was matched. The patient developed muscle weakness in the limbs 5 days after operation, which was gradually mitigated after reducing the dose of glucocorticoid. At postoperative 48 days, the patient was discharged in good condition and continually treated with triple immunosuppressive regimen after discharge. Reexamination at postoperative 6 months revealed that the patient was in good health without any abnormality in electrocardiogram and echocardiography images. Conclusions Danon disease is extremely rare and MDT pattern may enhance the efficacy and safety of treatment by heart transplantation. -
图 1 Danon病患者超声心动图
注：A、B图二维超声示，全心增大，室间隔及左室后壁增厚（室间隔14 mm，左室后壁16 mm），心肌回声细腻增强、排列紊乱，心腔内肌小梁明显增多，分布杂乱，大量心包积液；C、D图彩色多普勒超声示，二、三尖瓣及主动脉瓣瓣叶结构及功能正常，房室瓣瓣环扩张，三尖瓣中量反流，二尖瓣少量反流，肺动脉高压；E、F图示使用Simpson法测得LVEF 25%，TAPSE 10 mm，提示左、右室壁弥漫性运动减低；G图二尖瓣频谱多普勒及组织多普勒示心室存在限制性的充盈障碍，二尖瓣频谱为单峰，E＝0.9 m/s，二尖瓣瓣环处组织多普勒示e’（室间隔）＝3.71 cm/s，e’（左室侧壁）＝3.23 cm/s。
Figure 1. Echocardiography image of the patient with Danon disease
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[1] DANON MJ, OH SJ, DIMAURO S, et al. Lysosomal glycogen storage disease with normal acid maltase[J]. Neurology, 1981, 31(1):51-57. DOI: 10.1212/wnl.31.1.51. [2] TANAKA Y, GUHDE G, SUTER A, et al. Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice[J]. Nature, 2000, 406(6798):902-906. DOI: 10.1038/35022595. [3] KOVACS WJ, SHACKELFORD JE, TAPE KN, et al. Disturbed cholesterol homeostasis in a peroxisome-deficient PEX2 knockout mouse model[J]. Mol Cell Biol, 2004, 24(1):1-13. DOI: 10.1128/mcb.24.1.1-13.2004. [4] BEERTSEN W, WILLENBORG M, EVERTS V, et al. Impaired phagosomal maturation in neutrophils leads to periodontitis in lysosomal-associated membrane protein-2 knockout mice[J]. J Immunol, 2008, 180(1):475-482. DOI: 10.4049/jimmunol.180.1.475. [5] KHANDIA R, DADAR M, MUNJAL A, et al. A comprehensive review of autophagy and its various roles in infectious, non-infectious, and lifestyle diseases: current knowledge and prospects for disease prevention, novel drug design, and therapy[J]. Cells, 2019, 8(7):674. DOI: 10.3390/cells8070674. [6] NASCIMBENI AC, FANIN M, ANGELINI C, et al. Autophagy dysregulation in Danon disease[J]. Cell Death Dis, 2017, 8(1):e2565. DOI: 10.1038/cddis.2016.475. [7] ROWLAND TJ, SWEET ME, MESTRONI L, et al. Danon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathy[J]. J Cell Sci, 2016, 129(11):2135-2143. DOI: 10.1242/jcs.184770. [8] NISHINO I, FU J, TANJI K, et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)[J]. Nature, 2000, 406(6798): 906-910. DOI: 10.1038/35022604. [9] CHARRON P, VILLARD E, SÉBILLON P, et al. Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey[J]. Heart, 2004, 90(8):842-846. DOI: 10.1136/hrt.2003.029504. [10] SUGIE K, YAMAMOTO A, MURAYAMA K, et al. Clinicopathological features of genetically confirmed Danon disease[J]. Neurology, 2002, 58(12):1773-1778. DOI: 10.1212/wnl.58.12.1773. [11] GUO S, ZHOU L, WANG R, et al. Danon disease: two patients with atrial fibrillation in a single family and review of the literature[J]. Exp Ther Med, 2019, 18(3):1527-1532. DOI: 10.3892/etm.2019.7777. [12] ROOS JCP, DANIELS MJ, MORRIS E, et al. Heterogeneity in a large pedigree with Danon disease: implications for pathogenesis and management[J]. Mol Genet Metab, 2018, 123(2):177-183. DOI: 10.1016/j.ymgme.2017.06.008. [13] CENACCHI G, PAPA V, PEGORARO V, et al. Review: Danon disease: review of natural history and recent advances[J]. Neuropathol Appl Neurobiol, 2020, 46(4):303-322. DOI: 10.1111/nan.12587. [14] KONRAD T, SONNENSCHEIN S, SCHMIDT FP, et al. Cardiac arrhythmias in patients with Danon disease[J]. Europace, 2017, 19(7):1204-1210. DOI: 10.1093/europace/ euw215. [15] CHENG Z, FANG Q. Danon disease: focusing on heart[J]. J Hum Genet, 2012, 57(7):407-410. DOI: 10.1038/jhg.2012.72. [16] HEDBERG OLDFORS C, MÁTHÉ G, THOMSON K, et al. Early onset cardiomyopathy in females with Danon disease[J]. Neuromuscul Disord, 2015, 25(6):493-501. DOI: 10.1016/j.nmd.2015.03.005. [17] BOUCEK D, JIRIKOWIC J, TAYLOR M. Natural history of Danon disease[J]. Genet Med, 2011, 13(6):563-568. DOI: 10.1097/GIM.0b013e31820ad795. [18] ECHANIZ-LAGUNA A, MOHR M, EPAILLY E, et al. Novel LAMP-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease[J]. Muscle Nerve, 2006, 33(3):393-397. DOI: 10.1002/mus.20471. [19] DU CZ, LI J, CAI Y, et al. Effect of multidisciplinary team treatment on outcomes of patients with gastrointestinal malignancy[J]. World J Gastroenterol, 2011, 17(15):2013-2018. DOI: 10.3748/wjg.v17.i15.2013. [20] FRIEDLAND PL, BOZIC B, DEWAR J, et al. Impact of multidisciplinary team management in head and neck cancer patients[J]. Br J Cancer, 2011, 104(8):1246-1248. DOI: 10.1038/bjc.2011.92. [21] SAMAD F, JAIN R, JAN MF, et al. Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy)[J]. Int J Cardiol, 2017, 245:201-206. DOI: 10.1016/j.ijcard.2017.06.031. [22] ENDO Y, FURUTA A, NISHINO I. Danon disease: a phenotypic expression of LAMP-2 deficiency[J]. Acta Neuropathol, 2015, 129(3):391-398. DOI: 10.1007/s00401- 015-1385-4. [23] D'SOUZA RS, LEVANDOWSKI C, SLAVOV D, et al. Danon disease: clinical features, evaluation, and management[J]. Circ Heart Fail, 2014, 7(5):843-849. DOI: 10.1161/CIRCHEARTFAILURE.114.001105. [24] HENSLEY N, DIETRICH J, NYHAN D, et al. Hypertrophic cardiomyopathy: a review[J]. Anesth Analg, 2015, 120(3): 554-569. DOI: 10.1213/ANE.0000000000000538. [25] CHAVES-MARKMAN Â, MARKMAN M, SANTOS-VELOSO MAO, et al. Familial hypertrophic cardiomyopathy: late potentials and other prognostic markers[J]. Cureus, 2020, 12(1):e6530. DOI: 10.7759/cureus.6530. [26] TOBITA T, NOMURA S, FUJITA T, et al. Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling[J]. Sci Rep, 2018, 8(1):1998. DOI: 10.1038/s41598-018-20114-9. [27] KOHLER L, PUERTOLLANO R, RABEN N. Pompe disease: from basic science to therapy[J]. Neurotherapeutics, 2018, 15(4):928-942. DOI: 10.1007/s13311-018-0655-y. [28] COLELLA P, MINGOZZI F. Gene therapy for Pompe disease: the time is now[J]. Hum Gene Ther, 2019, 30(10):1245-1262. DOI: 10.1089/hum.2019.109. [29] YAMAMOTO A, MORISAWA Y, VERLOES A, et al. Infantile autophagic vacuolar myopathy is distinct from Danon disease[J]. Neurology, 2001, 57(5):903-905. DOI: 10.1212/wnl.57.5.903. [30] MUNTEANU I, KALIMO H, SARASTE A, et al. Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy[J]. Neuromuscul Disord, 2017, 27(2):185-187. DOI: 10.1016/j.nmd.2016.10.007. [31] STEVENS-LAPSLEY JE, KRAMER LR, BALTER JE, et al. Functional performance and muscle strength phenotypes in men and women with Danon disease[J]. Muscle Nerve, 2010, 42(6):908-914. DOI: 10.1002/mus.21811. [32] BRAMBATTI M, CASPI O, MAOLO A, et al. Danon disease: gender differences in presentation and outcomes[J]. Int J Cardiol, 2019, 286:92-98. DOI: 10.1016/j.ijcard.2019.01.020. [33] VAN DER STARRE P, DEUSE T, PRITTS C, et al. Late profound muscle weakness following heart transplantation due to Danon disease[J]. Muscle Nerve, 2013, 47(1):135-137. DOI: 10.1002/mus.23517. [34] OREN D, CHAU P, MANNING M, et al. Heart transplantation in two adolescents with Danon disease[J]. Pediatr Transplant, 2019, 23(2):e13335. DOI: 10.1111/petr.13335. -
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