A 35-year-old man was diagnosed with dilated cardiomyopathy (DCM) and was subsequently admitted for the pre-transplant evaluation. Optimal medical management had failed to improve his impaired left ventricular function, and heart failure became medically intractable. There was no family history of congenital anomalies. Transthoracic echocardiogram revealed dilated left ventricle and severe left ventricular dysfunction (ejection fraction; 14.2%) (Panel A). Cardiopulmonary exercise testing displayed a significantly reduced VO2 peak of 13.3 mL/kg/ min. No anomalies in cardiac chamber and vessel were observed using cardiac magnetic resonance imaging. Right ventricular biopsy indicated myocardial injury derived from cardiomyopathy, characterized by myocardial replacement fibrosis and fat infiltration (Panel B). Also, further evaluation by computed tomography demonstrated associated extracardiac abnormalities, polysplenia (Panels C and D), pancreatic tail hypoplasia (Panel E), inversion of superior mesenteric vessels (Panel F), and intestinal malrotation. Polysplenia, one of the prominent features of heterotaxia, which is characterized by the features of left-sidedness including bilateral morphological left lung and interruption of the inferior vena cava with azygos continuation to the vein and cardiac anomaly. Although several associated genetic aberrations in ZIC3, EGF-CFC, and ACVR2B have been reported, the specific aetiology of heterotaxia remains unclear in most cases. Nevertheless, the high probability of cardiac anomalies with heterotaxia suggested the potential association of genes involved in body orientation and congenital cardiac abnormalities. To the best of our knowledge, this is the first report of the association of DCM with polysplenia and visceral heterotaxy. The DCM may also be one that these factors are similarly associated with.

中文翻译：

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扩张型心肌病合并内脏异位

一名 35 岁男性被诊断为扩张型心肌病 (DCM)，随后入院接受移植前评估。最佳的医疗管理未能改善他受损的左心室功能，心力衰竭在医学上变得棘手。无先天性异常家族史。经胸超声心动图显示左心室扩张和严重的左心室功能障碍（射血分数；14.2%）（图 A）。心肺运动测试显示 13.3 mL/kg/min 的 VO2 峰值显着降低。使用心脏磁共振成像未观察到心腔和血管异常。右心室活检显示由心肌病引起的心肌损伤，其特征是心肌替代纤维化和脂肪浸润（图 B）。还，计算机断层扫描的进一步评估显示相关的心外异常、多脾（图 C 和 D）、胰尾发育不全（图 E）、肠系膜上血管倒置（图 F）和肠旋转不良。多脾，异位症的突出特征之一，其特征是左侧特征，包括双侧形态学左肺和下腔静脉中断，奇数延续到静脉和心脏异常。尽管已经报道了 ZIC3、EGF-CFC 和 ACVR2B 中的几种相关遗传畸变，但在大多数情况下，异质性的具体病因仍不清楚。然而，心脏异常与异位症的高概率表明与身体方向和先天性心脏异常相关的基因之间存在潜在关联。据我们所知，这是 DCM 与多脾和内脏异位相关的第一份报告。DCM 也可能是与这些因素类似地相关联的因素。