Arterial calcification of infancy

Title

Other Names:

Occlusive infantile arteriopathy; Idiopathic infantile arterial calcification; IIAC; Occlusive infantile arteriopathy; Idiopathic infantile arterial calcification; IIAC; Generalized arterial calcification in infancy See More

Categories:

Blood Diseases; Congenital and Genetic Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 51608

Disease definition

Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.

Epidemiology

Approximately 100 cases have been reported worldwide, with the majority of patients being Caucasians. The disease most commonly occurs in infants less than six months of age.

Clinical description

Severe systemic hypertension, cardiomyopathy, and congestive heart failure are frequent complications. Associated anomalies are rare, and include non-specified cardiac anomalies, hydronephrosis, polycystic kidneys, trisomy 17 and 18. 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.

Etiology

The etiology is not completely understood. There is evidence of familial clusters. Recently, the disease has been found with mutations that inactivated ecto-nucleotide pyrophosphatase/phosphodiesterase 1.

Diagnostic methods

Clinical diagnosis is feasible with radiologic studies, including angiography, or computerized tomographic scans of arteries of the head, neck, and extremities.

Differential diagnosis

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

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.

Genetic counseling

As an autosomal recessive inheritance is suggested, consanguinity increases the risk of developing the disease.

Management and treatment

There is no specific treatment for this disease.

Prognosis

Prognosis is poor. Most infants die from myocardial infarction within the first year of life, with the greatest number of deaths occurring within the first six months.

Visit the Orphanet disease page for more resources.

Last updated: 4/2/2007

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Hypophosphatemic rickets	Occasional (present in 5%-29% of cases)
Autosomal recessive inheritance	-
Congestive heart failure	-
Coronary artery calcification	-
Generalized arterial calcification	-
Hypertension	-
Myocardial infarction	-

Last updated: 9/1/2017

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Do you have updated information on this condition? Let us know.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Arterial calcification of infancy. This website is maintained by the National Library of Medicine.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Arterial calcification of infancy. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

NCATS Co-Sponsored Conferences

Nutritional Challenges in the High-Risk Infant Monday, September 14, 2009 - Tuesday, September 15, 2009
Location: DC Metro Area,
Description: Evidence was critically evaluated at this workshop. Current gaps in knowledge in this area were identified and research priorities were formulated. The workshop summary will provide NICHD and the scientific community a template to address the scientific and clinical issues related to nutrition and neonatal care.

Contact: Dr. Rosemary D. Higgins, NICHD 301-435-7909

Co-funding Institute(s): National Institute of Child Health and Human Development

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.