Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Iranian Legal Medicine Research Centre, Legal Medicine Organization, Tehran, Iran.
Iran J Med Sci. 2023 Mar;48(2):214-218. doi: 10.30476/IJMS.2022.93394.2470.
Herein we present a case of a neonate with congenital left ventricular diverticulum (LVD), a rare anomaly, with an unusual course and unexpected findings. The neonate was born at 35 weeks in Namazi Hospital (Shiraz, Iran) and presented with a pulsatile umbilical mass immediately after birth. Based on multiple imaging modalities, the presence of a connection between the left ventricular apex and the umbilicus was confirmed. Percutaneous closure of LVD was unsuccessful. The patient's clinical course deteriorated after developing sepsis and multiorgan failure. The patient passed away before any corrective surgery could be performed. Unexpected findings in post-mortem evaluation were severe hepatic macrovesicular steatosis (suggestive of metabolic liver disease) and regulatory factor X6 () heterozygous missense mutation in whole-exome sequencing.
在此，我们报告了一例新生儿患有先天性左心室憩室（LVD），这是一种罕见的异常，其病程不寻常且存在意外发现。该新生儿于 35 周在纳马齐医院（伊朗设拉子）出生，出生后立即出现脐部搏动性肿块。根据多种成像方式，证实左心室心尖与脐部之间存在连接。经皮左心室憩室封堵术不成功。该患者在发生脓毒症和多器官衰竭后病情恶化。在进行任何矫正手术之前，该患者死亡。在尸检评估中发现了意外的严重肝脏大泡性脂肪变性（提示代谢性肝病）和全外显子组测序中调节因子 X6 () 杂合错义突变。
