Mandaliya Rohan, Boigon Margot, Nweke Nneka, Fierstein Jeffrey
Department of Internal Medicine, Abington Memorial Hospital, Abington, PA 19001, USA.
Division of Cardiology, Abington Memorial Hospital, Abington, PA 19001, USA.
Cardiol Res. 2014 Feb;5(1):42-47. doi: 10.14740/cr323w. Epub 2014 Feb 27.
A 57-year-old African American female with a history of ischemic cardiomyopathy and a recent stroke with no residual deficits presented with apraxia and confusion. Non-contrast CT scan of the head revealed multiple embolic strokes in both cerebral hemispheres. Transthoracic echocardiography raised the suspicion for increased trabecular meshwork in the left ventricle. Cardiac MRI confirmed the findings of isolated left ventricular non-compaction (LVNC) syndrome. A contrast-enhanced transesophageal echocardiogram demonstrated the characteristic features of this unusual disease with the additional demonstration of contrast filling the trabecular meshwork. Interestingly multiple transthoracic echocardiograms in the past had failed to identify myocardial non-compaction. The patient was started on warfarin for prophylactic anticoagulation and an implantable defibrillator was placed to lower the risk of sudden death. LVNC is a rare type of genetic cardiomyopathy characterized by excessively prominent trabeculations and deep inter-trabecular recesses in the ventricle wall. Non-compaction remains frequently overlooked even by experienced echocardiographers. Failure to diagnosis may lead to insufficient treatment since it is often associated with a risk of thromboembolism, life-threatening arrhythmias and sudden death. Furthermore, because of the familial association described with ventricular non-compaction, screening of first relatives with echocardiography is recommended.
一名57岁的非裔美国女性，有缺血性心肌病病史，近期发生中风且无残留神经功能缺损，现出现失用症和意识模糊。头部非增强CT扫描显示双侧大脑半球有多处栓塞性中风。经胸超声心动图检查引发了对左心室小梁网增多的怀疑。心脏磁共振成像证实了孤立性左心室心肌致密化不全（LVNC）综合征的诊断结果。经食管对比增强超声心动图显示了这种罕见疾病的特征，还额外显示了造影剂填充小梁网。有趣的是，过去多次经胸超声心动图检查均未能发现心肌致密化不全。患者开始服用华法林进行预防性抗凝治疗，并植入了植入式心脏除颤器以降低猝死风险。LVNC是一种罕见的遗传性心肌病，其特征是心室壁小梁过度突出和小梁间深陷。即使是经验丰富的超声心动图检查人员，心肌致密化不全也常常被忽视。未能诊断可能导致治疗不足，因为它常与血栓栓塞、危及生命的心律失常和猝死风险相关。此外，由于心室致密化不全存在家族相关性，建议对一级亲属进行超声心动图筛查。
