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贝里综合征病例系列:一组罕见的致命性心脏异常。

Case Series of Berry syndrome: A rare constellation of fatal cardiac anomalies.

作者信息

Tandayu Kevin Moses Hanky Jr, Kurniawati Yovi, Atmosudigdo Indriwanto Sakidjan, Lilyasari Oktavia

机构信息

Department of Cardiology and Vascular Medicine, National Cardiovascular Centre Harapan Kita, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.

Department of Cardiology and Vascular Medicine, Division of Pediatric Cardiology and Congenital Heart Disease, National Cardiovascular Centre Harapan Kita, Jakarta, Indonesia.

出版信息

Ann Pediatr Cardiol. 2023 Sep-Oct;16(5):374-377. doi: 10.4103/apc.apc_109_23. Epub 2024 Apr 1.

Abstract

Berry syndrome is an extremely rare constellation of several congenital cardiac anomalies consisting of aortopulmonary window, aortic origin of the right pulmonary artery (AORPA), interrupted aortic arch or hypoplastic aortic arch or coarctation of the aorta, and an intact ventricular septum with high neonatal mortality rates. The disease is fatal with high mortality (90%) in the neonatal period with surviving patients mostly developing pulmonary hypertension. We describe the clinical presentation and diagnostic clues in two patients with Berry syndrome.

摘要

贝里综合征是一种极为罕见的先天性心脏异常组合,包括主肺动脉窗、右肺动脉起源于主动脉(AORPA)、主动脉弓中断或主动脉弓发育不全或主动脉缩窄,以及室间隔完整,新生儿死亡率高。该疾病在新生儿期具有很高的致死率(90%),存活患者大多会发展为肺动脉高压。我们描述了两名贝里综合征患者的临床表现和诊断线索。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4539/11098299/0129a124690b/APC-16-374-g001.jpg

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