Kickboxing a cardiomyopathy: mitochondrial sequencing provides answer for young athlete and her family.
Kickboxing a cardiomyopathy: mitochondrial sequencing provides answer for young athlete and her family.
复制标题
跆拳道心肌病：线粒体测序为年轻运动员及其家人提供了答案。
DOI：
10.1136/bcr-2020-237592
复制
发表时间：
2021
期刊：
影响因子：
0.9
通讯作者：
Muse,EvanD
中科院分区：
文献类型：
--
作者：
Dineen,ElizabethH;Torkamani,Ali;Muse,EvanD
线粒体疾病很少见，常常未被诊断出来，并可能导致多系统器官功能障碍的毁灭性级联反应。这份关于一名患有听力损失和妊娠糖尿病的年轻女性的报告说明了由先前描述的线粒体基因 MT-TL1 突变引起的心肌病的新表现。她最初患有双心室心功能不全和室性心律失常，最终通过β受体阻滞剂和时间恢复。她继续参加体育运动，没有衰退。重要的是要对线粒体疾病进行鉴别诊断并了解检测和管理策略，以便为患者提供最佳护理。
Mitochondrial diseases are rare, often go undiagnosed and can lead to devastating cascades of multisystem organ dysfunction. This report of a young woman with hearing loss and gestational diabetes illustrates a novel presentation of a cardiomyopathy caused by a previously described mutation in a mitochondrial gene, MT-TL1. She initially had biventricular heart dysfunction and ventricular arrhythmia that ultimately recovered with beta blockade and time. She continues to participate in sport without decline. It is important to keep mitochondrial diseases in the differential diagnosis and understand the testing and management strategies in order to provide the best patient care.