模仿新生儿主动脉粥样硬化的婴儿期全身动脉钙化

IF 3.8 Q1 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING Radiology. Cardiothoracic imaging Pub Date : 2024-06-01 DOI:10.1148/ryct.230403

Neha A Varghese, Boobathi R Gopal, Anupama Maheswaran, Vijayakumar Raju, Aparna Vijayaraghavan

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引用次数: 0

摘要

婴儿期全身动脉钙化（GACI）是一种罕见的遗传病，临床表现多种多样。因此，诊断常常被延迟或漏诊。GACI 的预后很差，半数以上的患者在 6 个月前死亡。事实证明，早期诊断和使用双膦酸盐治疗可提高这些患者的存活率。这是一份新生儿呼吸窘迫的病例报告，超声心动图初步诊断为主动脉共动脉瘤。CT 的进一步成像显示主动脉狭窄与 GACI 有关。关键词遗传缺陷，先天性，血管，钙化/结石，主动脉，肺动脉，CT 血管造影，超声心动图，儿科 © RSNA, 2024.

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Generalized Arterial Calcification of Infancy Mimicking Coarctation of Aorta in a Neonate.

Generalized arterial calcification of infancy (GACI) is a rare genetic condition with varied clinical presentation. Consequently, diagnosis is frequently delayed or missed. GACI has a poor prognosis, with more than half of patients dying before the age of 6 months. Early diagnosis and treatment with bisphosphonates have been shown to improve survival in these patients. This is a case report of a newborn with respiratory distress who was initially diagnosed with coarctation of the aorta at echocardiography. Further imaging with CT revealed the aortic narrowing to be associated with GACI. Keywords: Genetic Defects, Congenital, Vascular, Calcification/Calculi, Aorta, Pulmonary Arteries, CT Angiography, Echocardiography, Pediatrics © RSNA, 2024.

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来源期刊

Radiology. Cardiothoracic imaging

CiteScore

20.40

自引率

1.40%

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