Azhar Waqas, Singh Gurjot, Saveeta Fnu, Singh Didar, Ratnani Tanya, Singla Deepak, Kachhadia Meet Popatbhai, Goyal Ninia, Puri Piyush
Internal Medicine, Memorial Medical Center, Springfield, USA.
Internal Medicine, Saint John's Hospital, Springfield, USA.
Cureus. 2024 Apr 29;16(4):e59265. doi: 10.7759/cureus.59265. eCollection 2024 Apr.
The characteristic structural anomaly of the heart in the left ventricular non-compaction (LVNC) is identified with a prominent layer of the trabecular meshwork, thin compacted myocardium, and intertrabecular recesses within the depths of the left ventricle. Despite growing clinical recognition, the prevalence of LVNC in adults and the full clinical spectrum remain poorly explored. The disease shows heterogeneous phenotypes from an asymptomatic presentation to severe cardiac complications like cardiac failure, arrhythmias, and thromboembolic events. Current diagnostic practices for LVNC lack standardized guidelines, making patient management difficult. We here report a case of an adult patient who presented with features of congestive cardiac failure and on detailed imaging with echocardiogram and magnetic resonance imaging (MRI) was diagnosed to have LVNC. We here also emphasize that there is a great need for refined diagnostic criteria that include genetic, clinical, and imaging data. Cases of LVNC with full-blown phenotypic expression should be used for diagnostic criteria.
左心室心肌致密化不全（LVNC）的心脏特征性结构异常表现为小梁网状结构突出、致密心肌薄以及左心室内小梁间隐窝。尽管临床认识不断增加，但LVNC在成人中的患病率以及完整的临床谱仍未得到充分研究。该疾病表现出从无症状到严重心脏并发症（如心力衰竭、心律失常和血栓栓塞事件）的异质性表型。目前LVNC的诊断方法缺乏标准化指南，给患者管理带来困难。我们在此报告一例成年患者，其表现为充血性心力衰竭特征，经超声心动图和磁共振成像（MRI）详细检查后被诊断为LVNC。我们在此还强调，非常需要完善的诊断标准，包括遗传、临床和影像学数据。具有完全表型表达的LVNC病例应用于诊断标准。
