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...

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Published in:Radiology. Cardiothoracic imaging 2024-06, Vol.6 (3), p.e230403
Main Authors: Varghese, Neha A, Gopal, Boobathi R, Maheswaran, Anupama, Raju, Vijayakumar, Vijayaraghavan, Aparna
Format: Article
Language:English
Subjects:
Aortic Coarctation - diagnosis
Aortic Coarctation - diagnostic imaging
Computed Tomography Angiography
Diagnosis, Differential
Echocardiography
Female
Humans
Infant, Newborn
Male
Vascular Calcification - diagnosis
Vascular Calcification - diagnostic imaging
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Summary: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. Genetic Defects, Congenital, Vascular, Calcification/Calculi, Aorta, Pulmonary Arteries, CT Angiography, Echocardiography, Pediatrics © RSNA, 2024.
ISSN:2638-6135
2638-6135
DOI:10.1148/ryct.230403