Idiopathic infantile arterial calcification

BACKGROUND: Idiopathic infantile arterial calcification is a rare disorder that often results in fetal or neonatal demise. Few reports have detailed an early diagnosis, complete antenatal and postnatal imaging, and postmortem findings. CASE: A patient presented at 33 weeks of gestation with hydrops fetalis. Idiopathic infantile arterial calcification was diagnosed using a fetal echocardiogram, and fetal demise occurred shortly thereafter. A complete postmortem evaluation included radiography and pathology...

Idiopathic infantile arterial calcification (IIAC) is a rare and nearly always fatal disorder. To date, prenatal diagnosis has been reported in fewer than 10 cases. We describe a series of three cases in which the diagnosis of IIAC was made at 23, 25 and 29 weeks' gestation. All three cases presented with a normal anatomy scan at 20 weeks' gestation with an echogenic intracardiac focus. Follow-up scans showed generalized hyperechogenicity and calcification of the walls of the large arteries, particularly the aorta and the iliac arteries...

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No abstract text is available yet for this article.

Idiopathic infantile arterial calcificationI (IIAC) is a rare disorder characterized by calcium deposition in the internal elastica lamina of medium and large arteries and it has been defined in term of molecular genetics. It is usually fatal, approximately 85% of all patients die within the first months of life owing to ischemia of vital organs. Death from myocardial infarction usually occurs in the first 6 months. Calcification in a peripheral artery with electrocardiogram (ECG) changes of occlusive coronary artery disease suggests the diagnosis...

Idiopathic infantile arterial calcification (IIAC) is a rare disorder characterized by extensive calcification of medium and large arteries. We report the case of a 32-week-old infant with hydrops fetalis and heart failure who died at 4 days of age. At autopsy the infant was found to have cardiomegaly, myocardial infarctions and multifocal calcifications of the aorta and arteries in the lungs, heart, thyroid, spleen, and testis. Calcification extended from the internal elastic lamina into the intima and media and was associated with a giant-cell reaction and smooth muscle proliferation...

The findings in a stillborn female fetus of 31 weeks' gestation with congenital Gaucher disease, nonimmune hydrops/erythroblastosis, infantile arterial calcification, and neonatal hepatitis/fibrosis are presented, the first report of this complete constellation. Prior reports describe two similar patients. One lacked the hepatocellular features of giant cell hepatitis although manifesting hepatic fibrosis; the second lacked hepatic pathology. The diagnosis of Gaucher disease herein was established by microscopic examination of the proband, enzymatic analysis of trophoblast, and enzymatic and genetic study of the parents...

No abstract text is available yet for this article.

Idiopathic infantile arterial calcification (IIAC) is a rare disease characterised by extensive depositions of hydroxyapatite in the internal elastic lamina of medium-sized and large arteries, frequently accompanied by periarticular calcifications. We report on three patients with various presenting signs and symptoms. Diagnostic imaging techniques and therapy with bisphosphonates will be discussed. For the first time long-term follow-up of up to 25 years will be reported.

Idiopathic infantile arterial calcification (IIAC) is a rare, but important, cause of rapidly progressive ischemic heart disease in children. In this paper, we report two recent cases of IIAC seen at tertiary referral hospitals. Both cases presented in infancy with signs of heart failure and, ultimately, died with the diagnosis of IIAC confirmed at postmortem examination. A thorough review of the literature reveals approximately 160 reported cases of IIAC. The clinical outcomes, radiographic findings and pathologic details are summarized...

Idiopathic infantile arterial calcification (IIAC) is a rare condition characterized by extensive calcification and stenosis of large and medium-size arteries. The etiology of the disease is unknown. However, the inheritance pattern has been shown to be autosomal recessive. The clinical presentation is variable, including cardiac failure (most common clinical finding), hypertension, and respiratory failure. Plain radiography, sonography and MRI can aid in the diagnosis. We present a case in which contrast-enhanced MR angiography with breath-hold and cardiac gating techniques allowed complete evaluation of the extent of this disease...

Idiopathic infantile arterial calcification (IIAC) is a life-threatening disorder in young infants. Cardiovascular symptoms are usually apparent within the first month of life. The symptoms are caused by calcification of large and medium-sized arteries, including the aorta, coronary arteries, and renal arteries. Most of the patients die by 6 months of age because of heart failure. Recently, homozygous or compound heterozygous mutations for the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene were reported as causative for the disorder...

Idiopathic infantile arterial calcification is a rare and usually fatal disorder, which is characterized by widespread vaso-occlusive disease. Presentation is variable, but refractory hypertension is typical, with symptoms of cardiorespiratory failure. Some present in utero with evidence of fetal compromise, which may manifest as hydrops fetalis and premature delivery or stillbirth. Presentation otherwise is usually in the neonatal period with 85% of cases being fatal within the first 6 months. Coronary artery involvement is a poor prognostic feature...

Idiopathic infantile arterial calcification (IIAC) is a rare disease that is characterized by calcification in the media and fibroproliferative changes in the intima of larger arteries, sometimes resulting in reduced vascular elasticity and blood flow. Although the molecular-genetic basis of the disease is unknown, IIAC is presumed to be acquired by an autosomal recessive mode of inheritance and is associated with a reduction in the levels of enzymes responsible for inorganic phosphate balance, resulting in abnormal deposition of calcium into the vessels...

Idiopathic infantile arterial calcification (IIAC; OMIM 208000) is characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. We analyzed affected individuals from 11 unrelated kindreds and found that IIAC was associated with mutations that inactivated ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This cell surface enzyme generates inorganic pyrophosphate (PP(i)), a solute that regulates cell differentiation and serves as an essential physiologic inhibitor of calcification...

An ultrasound study of a 28-week gestation demonstrated changes of poor cardiac function associated with calcifications of the wall of major arteries. Sudden in utero deterioration into hydrops prompted the delivery of a female infant who was diagnosed at autopsy of having a rare disease entity, idiopathic infantile arterial calcification. When a hydropic fetus is defined by ultrasound, this rare diagnosis should be included in the diagnostic considerations. Recent reports suggest successful therapy regimens for an otherwise fatal disease, making accurate diagnosis especially important...

Idiopathic arterial calcification of infancy, or occlusive infantile arterial calcification, is a rare cause of arterial calcification. This condition is inherited as an autosomal recessive pattern, which is almost always fatal. In most of the 100 cases described in the literature, the diagnosis was made at autopsy; a few cases have been reported in which an antemortem diagnosis was made on the basis of radiographic or sonographic demonstration of arterial calcification. The clinical characteristics are extremely variable, and respiratory distress with cardiac failure is the most common finding...

OBJECTIVE: Our objective was to determine the possible underlying etiologies and outcome in isolated fetal pericardial effusion. METHODS: Doppler fetal echocardiography allowed the diagnosis of pericardial effusion in three patients and revealed the etiology in two. RESULTS: We present the findings in three cases of isolated pericardial effusion. In the first, the pericardial effusion was a manifestation of trisomy 21 associated with a myeloproliferative disorder...

Prenatal sonographic diagnosis of idiopathic infantile arterial calcinosis has been limited to the third trimester. We report a monozygotic twin gestation for which an 18-week ultrasound detected the unique finding of hepatic vascular calcification as the earliest feature of the disorder. In contrast to previous reports, second-trimester ultrasound may permit timely diagnosis of idiopathic infantile arterial calcinosis.

BACKGROUND: Cardiovascular diseases are very common in patients with end-stage renal disease and are the underlying cause of approximately half the deaths in dialysis patients. In those patients vascular calcifications are typically seen in the tunica media and therefore represent histopathological changes different to those in atherosclerosis. For the evaluation of cardiovascular risk in chronic dialysis patients, a method is needed to reliably identify patients who have to undergo invasive diagnostics...