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At a glance

A very rare metabolic disorder characterized by deposition of calcium salts in the internal elastic lamina of large- and medium-sized arteries causing intimal proliferation and leading to arterial stenosis. It affects the aorta, coronary arteries, iliac vessels, and carotid arteries. Coronary artery disease occurs in early infancy with heart failure and myocardial infarction within the first months of life. Although survival to adulthood has been reported, death usually occurs before 6 months of age.

Synonyms

Idiopathic Infantile Arterial Calcification; Idiopathic Arterial Calcification in Infancy; Infantile Arterial Calcifications; Infantile Occlusive Arteriopathy; Medial Coronary Sclerosis of Infancy; Occlusive Infantile Arteriopathy; GACI Syndrome.

Incidence

The incidence remains unknown. However, the prevalence has been estimated at approximately 1:391,000 live births worldwide. There is no known geographic distribution or ethnic association.

Genetic inheritance

Autosomal recessive. It is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 (ATP-binding cassette subfamily C number 6) are known to cause pseudoxanthoma elasticum (PXE).

Pathophysiology

Calcification of the internal elastic lamina of arteries leading to rupture of the lamina and occlusive changes in the affected artery. Altered iron metabolism may play a role in the pathogenesis. Deficient extracellular inorganic pyrophosphate and a deficiency of plasma cell membrane glycoprotein-1 (PC-1) nucleoside triphosphate pyrophosphohydrolase activity can be associated with or is responsible for the disease.

Diagnosis

ECG changes of occlusive coronary artery disease, calcification in peripheral arteries demonstrable by ultrasound or CT scan. Periarticular calcification may be present. Prenatal ultrasound diagnosis is possible.

Clinical aspects

Respiratory difficulties and coronary artery disease occur in early infancy with heart failure and myocardial infarction. Vomiting, abdominal distension, ileus, joint swelling, and hypertension may coexist. Death usually occurs before the age of 6 months. Treatment with diphosphonate resolved the calcification in one reported case.

Precautions before anesthesia

Full assessment of cardiovascular system with ECG, echocardiography, and angiography. Treatment of hypertension and cardiac failure should be optimized. It is essential to correct anemia or any preoperative electrolyte disturbances.

Anesthetic considerations

Very poor long-term outlook. Anesthetic technique should be chosen to ensure cardiovascular stability; prevent hypertension/hypotension and maintain diastolic pressure to ensure coronary perfusion. Maintain heart rate; prevent excessive tachycardias. Prevent hypoxia and acidosis. Ensure adequate analgesia. Postoperative oxygen therapy and monitoring in an intensive care unit may be required.

Pharmacological implications

Avoid drugs that cause tachycardias or hypotension to ensure diastolic coronary perfusion is maintained.

References

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Levine  JC, Campbell  J, Nadel  A: Prenatal diagnosis of idiopathic infantile arterial calcification. Circulation 103:325, 2001.  [PubMed: 11208697]
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Nitschke  Y, Rutsch  F: ...

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