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Updated: Jun 23, 2025

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

Neha A Varghese1, Boobathi R Gopal1, Anupama Maheswaran1

  • 1From the Departments of Radiology (N.A.V., B.R.G., A.M.), Cardiothoracic Surgery (V.R.), and Pediatrics (A.V.), G Kuppuswamy Naidu Memorial Hospital, Netaji Road, P N Palayam, Coimbatore, Tamil Nadu 641037, India.

Radiology. Cardiothoracic Imaging
|June 20, 2024
PubMed

Insights

Generalized arterial calcification of infancy (GACI) is a rare genetic disorder. Early diagnosis via CT angiography and echocardiography improves survival in infants with this condition.

Area of Science:

  • Pediatrics
  • Medical Imaging
  • Genetics

Background:

  • Generalized arterial calcification of infancy (GACI) is a rare, often fatal genetic disorder.
  • Varied clinical presentations frequently lead to delayed or missed diagnoses.
  • Early intervention with bisphosphonates is crucial for improving patient outcomes.

Observation:

  • A newborn presented with respiratory distress and was initially diagnosed with coarctation of the aorta via echocardiography.
  • Computed tomography (CT) angiography revealed aortic narrowing associated with GACI.
  • This case highlights the diagnostic challenges in GACI.

Findings:

  • CT angiography is essential for accurate diagnosis of GACI, differentiating it from other conditions like coarctation of the aorta.
  • GACI involves widespread arterial calcification, impacting major vessels including the aorta and pulmonary arteries.
  • The study underscores the importance of advanced imaging in pediatric cardiovascular diagnostics.

Implications:

  • Prompt diagnosis and treatment of GACI can significantly improve infant survival rates.
  • Enhanced awareness and utilization of CT angiography in neonates with suspected vascular abnormalities are recommended.
  • This case report contributes to understanding the clinical spectrum and diagnostic pathways for GACI.

Keywords:
AortaCT AngiographyCalcification/CalculiCongenitalEchocardiographyGenetic DefectsPediatricsPulmonary ArteriesVascular

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