PDF(Pubmed)
Abstract：
Isolated right ventricular non-compaction (RVNC) is rare yet life-threatening if left untreated, especially when accompanied by ventricular tachycardia. We describe a rare case of isolated RVNC, presenting as a prominent and excessive trabeculation of the right ventricle (RV), with an abnormal electrocardiogram. The transthoracic echocardiography, computed tomography, and ventricular angiography results clearly demonstrated an isolated spongy RV, both anatomically and functionally. Genetic testing identified a missense mutation of TTN. Combined, the diagnosis of RVNC was established. The subsequent combination of heart failure therapy, antiarrhythmic, and anticoagulation therapy were effective with a favorable outcome. This case report describes the possible etiology, manifestation, characteristic images, and problematic diagnostic criteria of the isolated RVNC. This case also emphasizes the necessity for comprehensive cardiac screening in familial cardiomyopathy.
摘要：
孤立的右心室非致密化（RVNC）很少见，但如果不及时治疗会危及生命，尤其是伴有室性心动过速的时候.我们描述了一个罕见的孤立的RVNC，表现为右心室（RV）的突出和过度的小梁，心电图异常.经胸超声心动图,计算机断层扫描,和心室血管造影结果清楚地表明一个孤立的海绵状RV，在解剖学和功能上。基因检测确定了TTN的错义突变。合并,建立了RVNC的诊断。随后的心力衰竭联合治疗，抗心律失常,抗凝治疗有效，预后良好。此病例报告描述了可能的病因，表现，特征图像，和孤立的RVNC的有问题的诊断标准。此病例还强调了在家族性心肌病中进行全面心脏筛查的必要性。
