Zuo Meng-Ying, Shen Jie, Sun Ling
Department of Cardiology, Children's Hospital of Soochow University, Suzhou, China.
Transl Pediatr. 2022 Feb;11(2):311-317. doi: 10.21037/tp-21-460.
Left ventricular noncompaction (LVNC) is a particular type of cardiomyopathy with an excessively prominent trabecular meshwork and deep intertrabecular recesses in the left ventricle (LV). The clinical manifestation of LVNC is highly variable, ranging from no symptom to congestive heart failure, arrhythmia, thrombosis, and potentially sudden cardiac death. Approximately half of LVNC cases are hereditary. is expressed in human embryonic and vertebrate hearts. In this article, we report on a case of pediatric LVNC with a novel [c.859C>T, p.(Arg287Trp)] gene variant, which appears to be pathogenic and had not been previously reported in LVNC. The 6-year-old girl was admitted to our hospital for unexplained syncope. 2D-echocardiography revealed a dilated LV with numerous prominent trabeculations, and a two-layered structure, comprising a compacted thin epicardial band and a thicker non-compacted endocardial layer, with deep endomyocardial spaces and intertrabecular recesses in LV. During the follow-up, the child has not shown any obvious clinical signs or symptoms. In this case report, the variant of in LVNC expands the spectrum of variants that cause LVNC and contributes to the genetic counseling and individualized treatment of patients. Clinicians should focus on exploring the clinical and genetic characteristics of LVNC to provide therapies and follow-up to improve the outcome.
左心室心肌致密化不全（LVNC）是一种特殊类型的心肌病，其特征为左心室（LV）内小梁网状结构过度突出且小梁间隐窝较深。LVNC的临床表现差异很大，从无症状到充血性心力衰竭、心律失常、血栓形成，甚至可能发生心源性猝死。大约一半的LVNC病例是遗传性的。在人类胚胎和脊椎动物心脏中表达。在本文中，我们报告了一例患有新型[c.859C>T，p.(Arg287Trp)]基因变异的小儿LVNC病例，该变异似乎具有致病性，且此前在LVNC中未曾报道过。这名6岁女孩因不明原因晕厥入院。二维超声心动图显示左心室扩张，有许多突出的小梁，以及两层结构，包括一层致密的薄心外膜带和一层较厚的非致密心内膜层，左心室内有深的心内膜下间隙和小梁间隐窝。在随访期间，该患儿未表现出任何明显的临床体征或症状。在本病例报告中，LVNC中基因的变异扩展了导致LVNC的变异谱，并有助于为患者提供遗传咨询和个体化治疗。临床医生应专注于探索LVNC的临床和遗传特征，以提供治疗和随访，从而改善治疗结果。
