Refractory Right Ventricular Failure in a Patient with Emery-Dreifuss Muscular Dystrophy
Refractory Right Ventricular Failure in a Patient with Emery-Dreifuss Muscular Dystrophy
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金刚砂肌营养不良症患者难治性右心室衰竭
DOI：
10.2169/internalmedicine.4113-19
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发表时间：
2020
影响因子：
1.2
通讯作者：
T. Anzai
中科院分区：
文献类型：
--
作者：
Y. Chiba;A. Fukushima;M. Nakao;Y. Kobayashi;Takahiro Ishigaki;T. Tenma;K. Kamiya;Y. Shingu;Tomonori Ōoka;Y. Matsui;T. Anzai
1例23岁男性，由于LMNA(lamin A/C)突变，出现进行性肌肉无力和Emery-Dreifuss肌营养不良症(EDMD)。19岁时被诊断为充血性心力衰竭。最大限度的药物治疗/心脏再同步化未能改善心功能。因此，他因心力衰竭而住院。尽管进行了体外膜肺氧合治疗，他还是出现了严重的右心功能障碍并死亡(多器官衰竭)。心脏病变的存在决定了EDMD的预后。虽然有许多心律失常的报告，但很少有关于心力衰竭(特别是需要心脏移植的严重心力衰竭)的报告发表。右心功能监测和早期使用脑室辅助装置，加上考虑心脏移植的右心支持是重要的。
A 23-year-old man had progressive muscle weakness and Emery-Dreifuss muscular dystrophy (EDMD) due to a LMNA (lamin A/C) mutation. Congestive heart failure diagnosed at 19 years of age. Maximal drug treatment/cardiac resynchronization failed to improve the cardiac function. He was therefore hospitalized due to heart failure. Despite extracorporeal membrane oxygenation, he developed severe right heart dysfunction and died (multiple organ failure). A cardiac lesion's presence determines the prognosis of EDMD. While there are many arrhythmia reports, few reports on heart failure (particularly severe heart failure requiring cardiac transplantation) have been published. Right heart function monitoring and early ventricular-assist device use plus right heart support considering heart transplantation are important.
日本多中心登记处核纤层蛋白 A/C 突变携带者的临床表现和长期死亡率
DOI：
--
发表时间：
2018
期刊：
影响因子：
--
作者：
Nakajima K;Aiba T;Makiyama T;Nishiuchi S;Ohno S;Doi T;Shizuta S;Onoue K;Yagihara N;Ishikawa T;Watanabe I;Oginosawa Y;Nogami A;Aonuma K;Saitoh Y;Kimura T;Makita N;Shimizu W;Horie M and Kusano K.
通讯作者：
Horie M and Kusano K.