Suppr超能文献

同型胱氨酸尿症患者出现的心内无定形肿瘤;病例报告及文献复习

Intracardiac amorphous tumor presenting in a patient with homocystinuria; a case report with literature review.

作者信息

Hama-Karim Diar S, Othman Yad N, Majeed Zryan Salar, Ali Razhan K, Mohammed Arian, Muhamad Han Nihad

机构信息

Open Heart Center, Cardiac Care Unit, Sulaimaniyah Teaching Hospital, As-Sulaimaniyah, Kurdistan, Iraq.

Department of Thoracic and Cardiovascular, Shar Teaching Hospital, Malik Mahmood Circle, As-Sulaimaniyah 46001, Kurdistan, Iraq.

出版信息

Radiol Case Rep. 2023 Jan 19;18(3):1337-1341. doi: 10.1016/j.radcr.2022.12.040. eCollection 2023 Mar.

Abstract

Homocystinuria is a rare genetic disease with autosomal recessive pattern. It is reported to be highest in Arabian descend and could cause thrombosis, but mainly peripherally. Cardiac amorphous tumor has been recognized in the past 20 years and it is also a very rare cause primary benign tumor of the heart. Most of the cases reported to be associated with end-stage renal disease. Homocystinuria associated with Cardiac Amorphous tumor is extremely rare. Up to our knowledge, there has been only one other case has been reported. Our patient is a 14-year-old female known case of homocystinuria presented with dyspnea and leg edema. On workup was found to have a mass in the right atrium extending to superior vena cava and inferior cava. Surgery undertaken on cardiopulmonary bypass partial resection of the mass was done and result came back as cardiac amorphous tumor. We assume the cause of this sinister complication of her primary illness is calcification of thrombus as stated in literature. And also recommend further studies regarding issue on hand.

摘要

同型胱氨酸尿症是一种罕见的常染色体隐性遗传疾病。据报道,该病在阿拉伯后裔中发病率最高,可导致血栓形成,但主要是外周血栓。心脏无定形肿瘤在过去20年中已被认识到,它也是一种非常罕见的原发性心脏良性肿瘤病因。大多数报道的病例与终末期肾病有关。同型胱氨酸尿症合并心脏无定形肿瘤极为罕见。据我们所知,此前仅报道过一例。我们的患者是一名14岁女性,已知患有同型胱氨酸尿症,出现呼吸困难和腿部水肿。检查发现右心房有一肿块,延伸至上腔静脉和下腔静脉。在体外循环下进行手术,部分切除肿块,结果显示为心脏无定形肿瘤。我们推测,正如文献中所述,其原发性疾病这种严重并发症的原因是血栓钙化。同时建议对手头问题进行进一步研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e216/9870922/309115fe1d40/gr1.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验