arterial calcification of infancy

Generalized Arterial Calcification of Infancy (GACI) Description

GACI is a rare genetic disorder that affects the circulatory system in addition to other body systems [1]. It is characterized by infantile onset of widespread arterial calcification and/or narrowing of large and medium-sized vessels, resulting in cardiovascular complications [2].

The condition is marked by abnormal accumulation of calcium (calcification) in the walls of blood vessels, which carry blood from the heart to the rest of the body [3]. This leads to a hardening or stiffening of the arteries, making it difficult for blood to flow properly.

Pathologically, GACI is characterized by deposition of calcium along the internal elastic membrane of arteries, accompanied by fibrous thickening of the vessel walls [4].

GACI is caused by deficiencies in the ENPP1 or ABCC6 genes, which are responsible for regulating mineralization and calcification processes in the body [5]. This genetic defect leads to an abnormal accumulation of calcium in the arterial walls.

In summary, GACI is a rare and life-threatening disorder that affects the circulatory system, characterized by widespread arterial calcification and cardiovascular complications. It is caused by genetic mutations affecting the ENPP1 or ABCC6 genes.

References:

[1] SG Ziegler (2020) - Generalized Arterial Calcification of Infancy [2] Jan 1, 2015 - GACI Characteristics [3] Pathological Description of GACI [4] AM Boyce (2020) - GACI Genetics [5] Generalised arterial calcification of infancy description

Respiratory Distress and Cardiac Issues are Common Signs

Arterial calcification of infancy (ACI), also known as generalized arterial calcification of infancy (GACI), is a rare genetic disorder that affects the arteries and other blood vessels. The signs and symptoms of ACI can vary, but some common ones include:

• Respiratory distress: Difficulty breathing or rapid breathing rate due to calcification in the lungs' blood vessels [1][2]
• Cardiomyopathy/Heart failure: Heart problems that can lead to fluid accumulation in the body [3][4]
• Calcification of major and minor blood vessels and organs: Calcium deposits in various parts of the body, including arteries, veins, and organs like the kidneys and liver [5]

Other signs and symptoms may include:

• Hearing loss or softening and weakening of the bones (rickets): Some individuals with ACI may experience hearing problems or rickets due to calcium imbalances [2]
• High blood pressure: Elevated blood pressure can be a sign of ACI, especially in early-onset cases [3][6]
• Stroke: In severe cases, ACI can lead to stroke due to calcification in the brain's blood vessels [7]

It is essential to note that these symptoms can vary in severity and may not be present in all individuals with ACI. If you suspect someone has this condition, it is crucial to consult a medical professional for proper diagnosis and treatment.

References:

[1] Context result 1 [2] Context result 2 [3] Context result 6 [4] Context result 5 [5] Context result 8 [6] Context result 3 [7] Context result 9

Based on the provided context, here are the diagnostic tests for Generalized Arterial Calcification of Infancy (GACI):

• Ultrasound scan of the abdomen to reveal diffuse calcification of abdominal wall with right artery stenosis [2]
• CT scan of abdomen to reveal a diffuse rim calcification [2]
• Whole-body computed tomography combined with CT angiography is the preferred imaging modality to assess calcifications extension [3]

Additionally, other diagnostic findings may include:

• Evidence of calcified arterial walls on X-rays of the chest/abdomen and long bones [8]
• CT of the chest
• ECHO (echocardiogram) [8]

It's worth noting that prenatal diagnosis is usually made in the third trimester by detection of aortic and pulmonary calcification with associated nonimmune hydrops [7].

Based on the available information, it appears that there are various treatment options for arterial calcification of infancy (GACI), although a curative treatment is still not established.

• Bisphosphonates: These medications have been used to reduce calcification in patients with GACI. However, their efficacy remains unclear [1][2]. Treatment with bisphosphonates might lead to increased survival rates, but more research is needed to confirm this [1].
• Pamidronate and acetazolamide: A successful treatment regimen has been reported using pamidronate, along with acetazolamide and Similac PM 60/40 (a low-calcium formula) [3].
• Hypophosphatemia management: In some cases, hypophosphatemia (low phosphate levels) is associated with survival beyond infancy in GACI. Treatment of hypophosphatemic rickets involves calcitriol and oral phosphate supplements [4].

It's essential to note that treatment for GACI can vary depending on the individual case, and a team approach may be necessary to determine the best course of action.

References:

[1] Kawai et al. (2022) - Treatment of GACI is ongoing, but its efficacy remains unclear [1]. [2] Ziegler et al. (2020) - Standard anti-calcification treatment with bisphosphonates may not be effective in all cases [3]. [3] Weingarten et al. (2022) - Successful treatment included pamidronate, acetazolamide, and Similac PM 60/40 [4]. [4] Dursun et al. (2019) - Hypophosphatemia management is associated with survival beyond infancy in GACI [5].

Arterial calcification of infancy (ACI) is a rare genetic disorder characterized by an abnormal buildup of calcium within the walls of the arteries, leading to cardiovascular complications. When it comes to differential diagnosis, several conditions need to be considered.

• Endocardial fibroelastosis: This condition involves the thickening and scarring of the endocardium, which can lead to calcification of the arterial walls [1].
• Myocarditis: Inflammation of the heart muscle can also cause calcification of the arteries [1].
• Infarction: A blockage in one or more coronary arteries can lead to calcification and narrowing of the affected vessels [2].
• Anomalous origin of the coronary arteries: This rare congenital anomaly can increase the risk of arterial calcification [3].
• Cardiac anomalies: Certain structural abnormalities of the heart, such as tetralogy of Fallot, can also contribute to ACI [4].
• Metastatic disease: In some cases, calcification of the arteries