Department of Internal Medicine, Miller School of Medicine at FAU-JFK Medical Center, University of Miami, Atlantis, Florida 33462, USA.
Am J Med Sci. 2010 Apr;339(4):383-6. doi: 10.1097/MAJ.0b013e3181d3cd91.
Noncompaction of ventricular myocardium (NVM), a relatively new diagnostic entity, is described as an arrest in the process of compaction of myocardial fibers, which results in a prominent trabecular network and deep intertrabecular recesses. Its coexistence with other cardiac anomalies like hypertrophic obstructive cardiomyopathy (HOCM) or polycystic kidney disease (PKD) had been reported in the past. We report the first case with all 3 different inherent conditions (NVM, HOCM, and PKD) manifesting in 1 patient. A 37-year-old man was referred for evaluation of a heart murmur. His medical history was positive for paroxysmal atrial fibrillation. Physical examination revealed a grade 3/6 systolic murmur loudest along the left sternal border accentuating on Valsalva maneuver. Echocardiography revealed HOCM. Cardiac magnetic resonance confirmed the presence of HOCM with the incidental finding of NVM and PKD. This case raises the possibility of genetic mutation common to these 3 clinical entities or 2 different gene mutations existing in the same individual.
心室心肌致密化不全（NVM）是一种相对较新的诊断实体，它被描述为心肌纤维致密化过程的中断，导致明显的小梁网络和深的小梁间陷窝。过去曾有报道称，它与肥厚型梗阻性心肌病（HOCM）或多囊肾病（PKD）等其他心脏异常并存。我们报告了首例同时存在 3 种不同固有疾病（NVM、HOCM 和 PKD）的病例，该患者在 1 名患者中表现出这 3 种不同的固有疾病。一名 37 岁男性因心脏杂音就诊。他的病史为阵发性心房颤动阳性。体格检查显示 3/6 级收缩期杂音，最响于胸骨左缘，瓦尔萨尔瓦动作时加重。超声心动图显示 HOCM。心脏磁共振成像证实存在 HOCM，并意外发现 NVM 和 PKD。该病例提示这 3 种临床实体存在共同的基因突变，或同一个体存在 2 种不同的基因突变。
