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致心律失常性右心室发育不良:一种未被充分认识的遗传性心肌病形式。

Arrhythmogenic Right Ventricular Dysplasia: An Under-recognized Form of Inherited Cardiomyopathy.

作者信息

Adesina George O, Hall Shelly A, Mendez Jose C, Joseph Susan M, Gottlieb Robert L, Kale Parag P, Bindra Amarinder S

机构信息

Baylor University Medical Center and Baylor Heart and Vascular Hospital, Dallas, TX.

出版信息

Rev Cardiovasc Med. 2017;18(1):37-43. doi: 10.3909/ricm0855.

Abstract

We report a case of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVD) in order to evaluate the course of an under-recognized form of cardiomyopathy with a vast array of clinical manifestations. The patient is a 49-year-old white woman transferred from an outside hospital due to dyspnea and persistent hypoxia. She had a pertinent family history that included a sister who died suddenly in her 30s from unexplained heart failure. Initial work-up for hypoxia was unrevealing. Transthoracic echocardiography revealed isolated right ventricular dysfunction with dilation and multiple trabeculations. Further investigation, including cardiac computed tomography and magnetic resonance imaging, revealed fatty infiltration into the right ventricular wall suggestive of ARVD.

摘要

我们报告一例致心律失常性右室心肌病/发育异常(ARVD)病例,以评估一种临床表现多样但未得到充分认识的心肌病的病程。患者为一名49岁白人女性,因呼吸困难和持续性低氧血症从外院转入。她有相关家族史,包括一名30多岁时因不明原因心力衰竭突然死亡的姐姐。对低氧血症的初步检查未发现异常。经胸超声心动图显示孤立性右室功能障碍伴扩张及多发小梁形成。进一步检查,包括心脏计算机断层扫描和磁共振成像,显示右室壁有脂肪浸润,提示ARVD。

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