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

被引：0
|
作者：
Varghese, Neha A. [1 ]
Gopal, Boobathi R. [1 ]
Maheswaran, Anupama [1 ]
Raju, Vijayakumar [2 ]
Vijayaraghavan, Aparna [3 ]
机构：
[1] G Kuppuswamy Naidu Mem Hosp, Dept Radiol, Netaji Rd, Coimbatore 641037, Tamil Nadu, India
[2] G Kuppuswamy Naidu Mem Hosp, Dept Cardiothorac Surg, Netaji Rd, Coimbatore 641037, Tamil Nadu, India
[3] G Kuppuswamy Naidu Mem Hosp, Dept Pediat, Netaji Rd, Coimbatore 641037, Tamil Nadu, India
来源：
RADIOLOGY-CARDIOTHORACIC IMAGING | 2024年 / 6卷 / 03期
关键词：
Genetic Defects; Congenital; Vascular; Calcification/Calculi; Aorta; Pulmonary Arteries; CT Angiography; Echocardiography; Pediatrics; MUTATIONS; ENPP1;
D O I：
10.1148/ryct.230403
中图分类号：
R8 [特种医学]; R445 [影像诊断学];
学科分类号：
1002 ; 100207 ; 1009 ;
摘要：
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.
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