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Updated: Jul 4, 2026
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Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation
Published on: May 31, 2016
Idiopathic infantile arterial calcification: case report.
G Palmas1, R Tumbarello, P Abbruzzese
1Neonatal Intensive Care Unit, University of Cagliari, Cagliari, Italy.
Minerva Pediatrica
|May 31, 2008
Summary
Idiopathic infantile arterial calcification (IIAC) is a rare genetic disorder causing fatal arterial calcification in infants. This case highlights the rapid progression and early mortality associated with ENPP1 gene mutations.
Area of Science:
- Genetics
- Pediatrics
- Cardiovascular Medicine
Background:
- Idiopathic infantile arterial calcification (IIAC) is a rare genetic disorder.
- It involves calcium deposition in the internal elastica lamina of medium and large arteries.
- IIAC is typically fatal within the first months of life due to organ ischemia.
Observation:
- A case of IIAC with rapid, fatal progression within the first month of life is presented.
- Diagnosis is suggested by peripheral artery calcification and ECG changes indicative of coronary artery disease.
- The condition is linked to mutations in the ENPP1 gene (OMIM 208000).
Findings:
- IIAC is characterized by extensive arterial calcification.
- Mutations in the ENPP1 gene are the underlying cause.
- High mortality rates, often from myocardial infarction, are observed in affected infants.
Implications:
- Early diagnosis and genetic identification are crucial for understanding IIAC.
- Further research into ENPP1 gene function may reveal therapeutic targets.
- This case underscores the severe and rapid nature of IIAC in infants.
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