Generalized arterial calcification of infancy

Also known as: arteriopathia calcificans infantum, diffuse arterial calcifying elastopathy of infancy, GACI, idiopathic infantile arterial calcification, idiopathic obliterative arteriopathy, IIAC, infantile calcifying arteriopathy, medial coronary sclerosis of infancy, occlusive infantile arteriopathy

Definition

Genetics Home Reference

Generalized arterial calcification of infancy (GACI) is a disorder affecting the circulatory system that becomes apparent before birth or within the first few months of life. It is characterized by abnormal accumulation of the mineral calcium (calcification) in the walls of the blood vessels that carry blood from the heart to the rest of the body (the arteries). This calcification often occurs along with thickening of the lining of the arterial walls (the intima). These changes lead to narrowing (stenosis) and stiffness of the arteries, which forces the heart to work harder to pump blood. As a result, heart failure may develop in affected individuals, with signs and symptoms including difficulty breathing, accumulation of fluid (edema) in the extremities, a bluish appearance of the skin or lips (cyanosis), severe high blood pressure (hypertension), and an enlarged heart (cardiomegaly).

People with GACI may also have calcification in other organs and tissues, particularly around the joints. In addition, they may have hearing loss or softening and weakening of the bones (rickets).

Some individuals with GACI also develop features similar to those of another disorder called pseudoxanthoma elasticum (PXE). PXE is characterized by the accumulation of calcium and other minerals (mineralization) in elastic fibers, which are a component of connective tissue. Connective tissue provides strength and flexibility to structures throughout the body. Features characteristic of PXE that also occur in GACI include yellowish bumps called papules on the underarms and other areas of skin that touch when a joint bends (flexor areas); and abnormalities called angioid streaks affecting tissue at the back of the eye, which can be detected during an eye examination.

As a result of the cardiovascular problems associated with GACI, individuals with this condition often do not survive past infancy, with death typically caused by a heart attack or stroke. However, affected individuals who survive their first six months, known as the critical period, can live into adolescence or early adulthood.

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Orphanet

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

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Classification

Symptoms

Medical Term Other Names Description
Angioid streaks of the fundus Angioid streaks, retina, Laquer cracks of the retina, Angioid streaks of the retina, Angioid streaks [more] Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic.
Metatarsus adductus Metatarsus adductovarsus, Metatarsus varus, Forefoot varus, Intoe [more] The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Stroke Cerebrovascular accidents, Cerebral vascular events Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
Cardiomegaly Increased heart size, Enlarged heart Increased size of the heart.
Congestive heart failure Cardiac failure, Cardiac insufficiency, Heart failure, CHF, Chronic heart failure [more] The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Edema Hydrops, Water retention, Fluid retention, Oedema, Dropsy [more] An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Cyanosis
Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound.
Myocardial infarction MI, Heart attack Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.
Respiratory distress Respiratory difficulties, Shortness of breath, Short of breath, Difficulty breathing, Breathing difficulties [more] Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Papule Skin papules A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.
Arterial calcification Pathological deposition of calcium salts in one or more arteries.
Hypertension Elevated blood pressure, Systemic hypertension, High blood pressure, Increased blood pressure [more] The presence of chronic increased pressure in the systemic arterial system.

Other Classifiers and IDs