Department of Cardiovascular Medicine, Teikyo University Chiba Medical Center, Ichihara, Chiba, Japan.
Department of Cardiovascular Medicine, Teikyo University Chiba Medical Center, Ichihara, Chiba, Japan.
Am J Kidney Dis. 2016 Jun;67(6):945-8. doi: 10.1053/j.ajkd.2015.12.031. Epub 2016 Feb 10.
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders, characterized by the formation of multiple cysts in the kidneys and other organs, as well as noncystic manifestations such as cerebral aneurysm. The most common cardiovascular disorders associated with ADPKD include valvular abnormalities and aortic aneurysm. An association between ADPKD and impaired left ventricular function has occasionally been reported. We describe a 74-year-old woman with ADPKD and exertional dyspnea. Impaired left ventricular function resulting from noncompaction of the ventricular myocardium (NVM) and secondary left ventricular aneurysm were diagnosed. Cardiac sarcoidosis and ischemic heart disease were ruled out. Myocardial ischemia resulting from NVM was the presumptive cause of the ventricular aneurysm. To our knowledge, this is the first report of concurrent isolated NVM and left ventricular aneurysm in a patient with ADPKD. ADPKD and various cardiomyopathies, including NVM, are all reported to involve mutations of sarcomere genes, suggesting a possible link between the conditions.
常染色体显性多囊肾病（ADPKD）是最常见的遗传性疾病之一，其特征是肾脏和其他器官中形成多个囊肿，以及非囊肿表现，如脑动脉瘤。与 ADPKD 相关的最常见心血管疾病包括瓣膜异常和主动脉瘤。偶尔有报道称 ADPKD 与左心室功能障碍有关。我们描述了一位 74 岁的 ADPKD 女性患者，表现为运动性呼吸困难。诊断为左心室心肌致密化不全（NVM）和继发性左心室动脉瘤导致的左心室功能障碍。排除了心脏结节病和缺血性心脏病。NVM 导致的心肌缺血被认为是心室动脉瘤的原因。据我们所知，这是首例在 ADPKD 患者中同时出现孤立性 NVM 和左心室动脉瘤的报告。ADPKD 和各种心肌病，包括 NVM，都被报道与肌节基因的突变有关，这表明这些疾病之间可能存在联系。
