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Arterial Calcification of Infancy

Last updated April 29, 2018

Approved by: Maulik P. Purohit MD, MPH

Arterial Calcification of Infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Generalized Arterial Calcification of Infancy (GACI)
  • Idiopathic Infantile Arterial Calcification (IIAC)
  • Infantile Arteriosclerosis

What is Arterial Calcification of Infancy? (Definition/Background Information)

  • Arterial Calcification of Infancy, also known as Idiopathic or Generalized Arterial Calcification of Infancy, is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries
  • Pathologically, the condition is characterized by deposition of calcium along the internal elastic membrane of arteries, accompanied by fibrous thickening of the intima, which causes luminal narrowing. The arterial lesions are widespread, but the resultant luminal narrowing invariably leads to coronary arterial occlusion and myocardial ischemia
  • Differential diagnosis includes endocardial fibroelastosis, myocardititis, storage disorders, infarction, anomalous insertion of the coronary arteries, cardiac anomalies, metastatic calcification due to renal disease, hypervitaminosis D, and infections. The disease should also be added to the list of differential diagnoses for non-immune fetal hydrops
  • Severe systemic hypertension, cardiomyopathy, and congestive heart failure are frequent complications
  • Antenatal diagnosis has been reported, with findings of arterial calcifications, hydrops, abnormal cardiac contractility, and hyperechoic kidneys. The diagnosis is essential for genetic counseling, and for screening of siblings at risk for developing the disease
  • As an autosomal recessive inheritance is suggested, consanguinity increases the risk of developing the disease

(Source: Generalized Arterial Calcification of Infancy; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Arterial Calcification of Infancy? (Age and Sex Distribution)

  • Arterial Calcification of Infancy is a rare congenital disorder, with about 100 cases reported in the medical literature
  • The presentation of symptoms may begin in the neonatal period, or within 6 months of birth in most cases
  • Both males and females may be affected
  • Most cases are reported in Caucasians, although individuals of other racial and ethnic groups may be affected

What are the Risk Factors for Arterial Calcification of Infancy? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Arterial Calcification of Infancy can be inherited
  • Children of consanguineous parents have an increased risk

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Arterial Calcification of Infancy? (Etiology)

The exact cause of Arterial Calcification of Infancy is not known.

  • The condition is associated with ENPP1 (ecto-nucleotide pyrophosphatase/phosphodiesterase 1) gene mutations that lead to loss of function of the enzyme 
  • Arterial Calcification of Infancy may be inherited in an autosomal recessive manner

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Arterial Calcification of Infancy?

The signs and symptoms of Arterial Calcification of Infancy may include:

  • Congestive heart failure
  • Coronary artery calcification
  • Generalized arterial calcification
  • Hypertension
  • Hypophosphatemic rickets
  • Myocardial infarction
  • Periarticular calcification
  • Short stature

(Source: Arterial Calcification of Infancy; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Arterial Calcification of Infancy Diagnosed?

  • The clinical diagnosis of Arterial Calcification of Infancy is feasible with radiologic studies, including angiography, or computerized tomographic scans of arteries of the head, neck, and extremities
  • Differential diagnosis includes endocardial fibroelastosis, myocardititis, storage disorders, infarction, anomalous insertion of the coronary arteries, cardiac anomalies, metastatic calcification due to renal disease, hypervitaminosis D, and infections. The disease should also be added to the list of differential diagnoses for non-immune fetal hydrops
  • Antenatal diagnosis has been reported, with findings of arterial calcifications, hydrops, abnormal cardiac contractility, and hyperechoic kidneys

(Source: Generalized Arterial Calcification of Infancy; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Arterial Calcification of Infancy?

The complications of Arterial Calcification of Infancy may include:

  • High blood pressure in blood vessels that carry blood from heart to other body parts
  • Cardiomyopathy
  • Heart failure

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Arterial Calcification of Infancy Treated?

There is no cure for Arterial Calcification of Infancy. The treatment is usually given to manage signs and symptoms, and any complication that develops

How can Arterial Calcification of Infancy be Prevented?

Arterial Calcification of Infancy may not be preventable, since it is a genetic disorder.

  • If there is a family history of the condition, then prenatal testing and genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
  • Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Arterial Calcification of Infancy? (Outcomes/Resolutions)

  • The prognosis of Arterial Calcification of Infancy is poor
  • Most affected infants die from myocardial infarction within the first year of life, with the greatest number of deaths occurring within the first six months

(Source: Generalized Arterial Calcification of Infancy; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Additional and Relevant Useful Information for Arterial Calcification of Infancy:

Arterial Calcification of Infancy is also known by the following names:

  • Arterial Calcification, Generalized, of Infancy
  • Occlusive Infantile Arteriopathy

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 29, 2018
Last updated: April 29, 2018