Generalized Arterial Calcification of Infancy Mimicking Coarctation of Aorta in a Neonate.
Neha A VargheseBoobathi R GopalAnupama MaheswaranVijayakumar RajuVijayakumar RajuPublished in: Radiology. Cardiothoracic imaging (2024)
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.
Keyphrases
- end stage renal disease
- chronic kidney disease
- poor prognosis
- aortic valve
- pulmonary artery
- ejection fraction
- computed tomography
- pulmonary hypertension
- newly diagnosed
- left ventricular
- prognostic factors
- magnetic resonance imaging
- peritoneal dialysis
- high resolution
- magnetic resonance
- genome wide
- weight gain
- coronary artery
- dna methylation
- single cell
- positron emission tomography
- photodynamic therapy
- arterial hypertension