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Edraki, Mohammad Reza, Taheri, Tara, Fereidooni, Mehran, Amozgar, Hamid, Dehghani, Elham. (1401). Unexpected Findings of Regulatory Factor X6 Gene Mutation and Severe Hepatic Macrovesicular Steatosis in a Neonate with Congenital Left Ventricle Diverticulum: A Case Report. سامانه مدیریت نشریات علمی, 48(2), 214-218. doi: 10.30476/ijms.2022.93394.2470
Mohammad Reza Edraki; Tara Taheri; Mehran Fereidooni; Hamid Amozgar; Elham Dehghani. "Unexpected Findings of Regulatory Factor X6 Gene Mutation and Severe Hepatic Macrovesicular Steatosis in a Neonate with Congenital Left Ventricle Diverticulum: A Case Report". سامانه مدیریت نشریات علمی, 48, 2, 1401, 214-218. doi: 10.30476/ijms.2022.93394.2470
Edraki, Mohammad Reza, Taheri, Tara, Fereidooni, Mehran, Amozgar, Hamid, Dehghani, Elham. (1401). 'Unexpected Findings of Regulatory Factor X6 Gene Mutation and Severe Hepatic Macrovesicular Steatosis in a Neonate with Congenital Left Ventricle Diverticulum: A Case Report', سامانه مدیریت نشریات علمی, 48(2), pp. 214-218. doi: 10.30476/ijms.2022.93394.2470
Edraki, Mohammad Reza, Taheri, Tara, Fereidooni, Mehran, Amozgar, Hamid, Dehghani, Elham. Unexpected Findings of Regulatory Factor X6 Gene Mutation and Severe Hepatic Macrovesicular Steatosis in a Neonate with Congenital Left Ventricle Diverticulum: A Case Report. سامانه مدیریت نشریات علمی, 1401; 48(2): 214-218. doi: 10.30476/ijms.2022.93394.2470

Unexpected Findings of Regulatory Factor X6 Gene Mutation and Severe Hepatic Macrovesicular Steatosis in a Neonate with Congenital Left Ventricle Diverticulum: A Case Report

Iranian Journal of Medical Sciences
مقاله 13، دوره 48، شماره 2، خرداد 2023، صفحه 214-218    اصل مقاله (784.12 K)
نوع مقاله: Case Report(s)
شناسه دیجیتال (DOI): 10.30476/ijms.2022.93394.2470
نویسندگان
Mohammad Reza Edraki1؛ Tara Taheri2؛ Mehran Fereidooni2؛ Hamid Amozgar3؛ Elham Dehghani* 1
1Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
2Iranian Legal Medicine Research Centre, Legal Medicine Organization, Tehran, Iran
3Neonatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
چکیده
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.
کلیدواژه‌ها
Diverticulum؛ Pentalogy of Cantrell؛ Ectopia cordis
سایر فایل های مرتبط با مقاله
مراجع
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