Unexpected Findings of Regulatory Factor X6 Gene Mutation and Severe Hepatic Macrovesicular Steatosis in a Neonate with Congenital Left Ventricle Diverticulum: A Case Report.
| Autor: | Edraki MR; Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Taheri T; Iranian Legal Medicine Research Centre, Legal Medicine Organization, Tehran, Iran., Fereidooni M; Iranian Legal Medicine Research Centre, Legal Medicine Organization, Tehran, Iran., Amozgar H; Neonatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Dehghani E; Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. |
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| Jazyk: | angličtina |
| Zdroj: | Iranian journal of medical sciences [Iran J Med Sci] 2023 Mar; Vol. 48 (2), pp. 214-218. |
| DOI: | 10.30476/IJMS.2022.93394.2470 |
| Abstrakt: | 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 ( RFX6 ) heterozygous missense mutation in whole-exome sequencing. Competing Interests: None declared. (Copyright: © Iranian Journal of Medical Sciences.) |
| Databáze: | MEDLINE |
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