Neha A Varghese, Boobathi R Gopal, Anupama Maheswaran, Vijayakumar Raju, Aparna Vijayaraghavan
{"title":"Generalized Arterial Calcification of Infancy Mimicking Coarctation of Aorta in a Neonate.","authors":"Neha A Varghese, Boobathi R Gopal, Anupama Maheswaran, Vijayakumar Raju, Aparna Vijayaraghavan","doi":"10.1148/ryct.230403","DOIUrl":null,"url":null,"abstract":"<p><p>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. <b>Keywords:</b> Genetic Defects, Congenital, Vascular, Calcification/Calculi, Aorta, Pulmonary Arteries, CT Angiography, Echocardiography, Pediatrics © RSNA, 2024.</p>","PeriodicalId":21168,"journal":{"name":"Radiology. Cardiothoracic imaging","volume":"6 3","pages":"e230403"},"PeriodicalIF":3.8000,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11211934/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Radiology. Cardiothoracic imaging","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1148/ryct.230403","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING","Score":null,"Total":0}
引用次数: 0
Abstract
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.
模仿新生儿主动脉粥样硬化的婴儿期全身动脉钙化
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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