About hypercalcemia-supravalvar aortic stenosis

What is hypercalcemia-supravalvar aortic stenosis?

Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age. Such characteristic facial features may include a round face, full cheeks, thick lips, a large mouth that is usually held open, and a broad nasal bridge with nostrils that flare forward (anteverted nares). Affected individuals may also have unusually short eyelid folds (palpebral fissures), flared eyebrows, a small lower jaw (mandible), and prominent ears. Dental abnormalities may also occur including abnormally small, underdeveloped teeth (hypodontia) with small, slender roots.

Williams syndrome may also be associated with heart (cardiac) defects, abnormally increased levels of calcium in the blood during infancy (infantile hypercalcemia), musculoskeletal defects, and/or other abnormalities. Cardiac defects may include obstruction of proper blood flow from the lower right chamber (ventricle) of the heart to the lungs (pulmonary stenosis) or abnormal narrowing above the valve in the heart between the left ventricle and the main artery of the body (supravalvular aortic stenosis). Musculoskeletal abnormalities associated with Williams syndrome may include depression of the breastbone (pectus excavatum), abnormal side-to-side or front-to-back curvature of the spine (scoliosis or kyphosis), or an awkward gait. In addition, most affected individuals have mild to moderate mental retardation; poor visual-motor integration skills; a friendly, outgoing, talkative manner of speech; a short attention span; and are easily distracted.

In most individuals with Williams syndrome, the disorder appears to occur spontaneously for unknown reasons (sporadically). However, familial cases have also been reported. Sporadic and familial cases are thought to result from deletion of genetic material from adjacent genes (contiguous genes) within a specific region of chromosome 7 (7q11.23).



What are the symptoms for hypercalcemia-supravalvar aortic stenosis?

Thirstiness symptom was found in the hypercalcemia-supravalvar aortic stenosis condition

Hypercalcemia-supravalvar aortic stenosis is a condition in which the calcium levels in your blood are too high. It can be caused by a number of factors, including the use of certain medications, overactive parathyroid glands (which are responsible for regulating the amount of calcium in your body), or kidney failure.

1. When this condition occurs, it can cause many symptoms like Fatigue and Weakness as well as more serious ones like Muscle cramps and trouble breathing. This condition can also lead to Heart problems like arrhythmias, heart failure, and coronary artery disease.

2. The condition can affect any blood vessel in your body, but it most commonly affects the aorta, which is the largest artery in your body. A calcified area on the aorta can narrow or block it, causing aortic stenosis (narrowing of the valve). This can increase blood pressure in your heart and reduce its ability to pump blood throughout your body.

3. Furthermore, the walls of your heart muscle cells become stiff and thickened, making it difficult for your heart to pump blood effectively. This can cause symptoms like shortness of breath, fatigue, and leg swelling.

Other symptoms of hypercalcemia-supravalvar aortic stenosis include:

1. Soreness in your chest

2. Crushing chest pain

3. Shortness of breath

4. Nausea, vomiting, or diarrhea

5. Extreme fatigue

If you experience any of these symptoms or notice that they've worsened over time, it's important that you speak with your doctor right away so they can determine what's causing them and how best to treat them.

Symptoms
Fatigue and weakness,Loss of appetite,Thirstiness,Abdominal pain or discomfort
Condition
Primary hyperparathyroidism,Secondary hyperparathyroidism,Pseudohypoparathyroidism,Vitamin D intoxication,Hypercalcemia of malignancy
Drugs
Bisphosphonates,Calcitonin,Calcium carbonate,Calcium and vitamin D supplements



What are the causes for hypercalcemia-supravalvar aortic stenosis?

Mutations in the ELN gene cause SVAS. The ELN gene provides instructions for making a protein called tropoelastin. Multiple copies of the tropoelastin protein attach to one another and are processed to form a mature protein called elastin. Elastin is the major component of elastic fibers, which are slender bundles of proteins that provide strength and flexibility to connective tissue (tissue that supports the body's joints and organs). Elastic fibers are found in the intricate lattice that forms in the spaces between cells (the extracellular matrix), where they give structural support to organs and tissues such as the heart, skin, lungs, ligaments, and blood vessels. Elastic fibers make up approximately 50 percent of the aorta, the rest being primarily muscle cells called vascular smooth muscle cells that line the aorta. Together, elastic fibers and vascular smooth muscle cells provide flexibility and resilience to the aorta.

Most of the ELN gene mutations that cause SVAS lead to a decrease in the production of tropoelastin. A shortage of tropoelastin reduces the amount of mature elastin protein that is processed and available for forming elastic fibers. As a result, elastic fibers that make up the aorta are thinner than normal. To compensate, the smooth muscle cells that line the aorta increase in number, making the aorta thicker and narrower than usual. A thickened aorta is less flexible and resilient to the stress of constant blood flow and pumping of the heart. Over time, the wall of the aorta can become damaged. Aortic narrowing causes the heart to work harder to pump blood through the aorta, resulting in the signs and symptoms of SVAS.



What are the treatments for hypercalcemia-supravalvar aortic stenosis?

Hypercalcemia-supravalvar aortic stenosis is a condition that occurs when calcium levels in the blood are too high. This condition can be caused by an overproduction of parathyroid hormone (PTH), which increases calcium levels in the blood. PTH is produced by the parathyroid glands, and its main function is to regulate blood calcium levels by increasing them.

There are several treatments available for hypercalcemia-supravalvar aortic stenosis, including drugs used to reduce PTH production, which help lower calcium levels in the blood.

Medications for Hypercalcemia-Supravalvar Aortic Stenosis include:

1. Phosphate binders: Phosphate binders can help lower the total blood calcium levels and prevent the build-up of calcium in the kidneys, bones, and soft tissues. They also decrease the absorption of calcium from food and decrease its release from bone. The most commonly used phosphate binders are calcium acetate, sevelamer carbonate, lanthanum carbonate, calcium carbonate and calcium citrate.

2. Lithium Carbonate: This medication is used for the treatment of patients with hypercalcemia due to a supravalvar aortic stenosis. Lithium carbonate works by decreasing the amount of calcium in the blood, which will help with your symptoms. You should take this medication once daily in the morning.

3. Calcium Acetate: Calcium acetate works by binding to calcium in your body and helping to remove it from your bloodstream. It also helps with reducing high blood pressure and low blood pressure associated with this condition. You should take this medication once daily in the morning or at night before bedtime.

Symptoms
Fatigue and weakness,Loss of appetite,Thirstiness,Abdominal pain or discomfort
Condition
Primary hyperparathyroidism,Secondary hyperparathyroidism,Pseudohypoparathyroidism,Vitamin D intoxication,Hypercalcemia of malignancy
Drugs
Bisphosphonates,Calcitonin,Calcium carbonate,Calcium and vitamin D supplements



What are the risk factors for hypercalcemia-supravalvar aortic stenosis?

Hypercalcemia-supravalvar aortic stenosis (HSAS) is a disease in which the body produces too much calcium. It’s also called hyperparathyroidism-associated aortic stenosis.

The condition occurs most often in people with hyperparathyroidism, which is caused by an overactive parathyroid gland. The parathyroid glands are located on the thyroid glands and produce parathyroid hormone (PTH). PTH regulates the amount of calcium and phosphate in your blood.

In people with HSAS, the parathyroid glands make too much PTH, which leads to increased levels of calcium in the blood. This can cause thickening of the heart valves, including those that control blood flow through your heart.

There are a few risk factors that can lead to hypercalcemia-supravalvar aortic stenosis.

1. The first is being female, as women are more likely to develop hypercalcemia than men. This is due to the fact that women have lower levels of vitamin D and parathyroid hormone than men do, which regulates calcium levels in the body.

2. Another risk factor for hypercalcemia-supravalvar aortic stenosis is having a family history of the condition. If you have relatives who developed hypercalcemia at an early age, you're more likely to develop it yourself.

3. Finally, if you suffer from kidney disease or other conditions that result in low blood pressure and dehydration, then you could be more prone to developing hypercalcemia-supravalvar aortic stenosis.

Symptoms
Fatigue and weakness,Loss of appetite,Thirstiness,Abdominal pain or discomfort
Condition
Primary hyperparathyroidism,Secondary hyperparathyroidism,Pseudohypoparathyroidism,Vitamin D intoxication,Hypercalcemia of malignancy
Drugs
Bisphosphonates,Calcitonin,Calcium carbonate,Calcium and vitamin D supplements



Is there a cure/medications for hypercalcemia-supravalvar aortic stenosis?

Unfortunately, there is no cure or medication for hypercalcemia-supravalvar aortic stenosis. The condition is treated by managing the symptoms and keeping the body hydrated.

The first step in treating hypercalcemia-supravalvar aortic stenosis is to reduce your intake of calcium. You should also avoid taking vitamin D supplements, which can increase the amount of calcium in your blood.

Other ways for treating hypercalcemia-supravalvar aortic stenosis include:

1. Reducing calcium intake and taking supplements that contain vitamin D and potassium.

2. Taking medications to reduce the amount of calcium in the blood.

3. Taking medications that decrease bone breakdown by slowing down the production of osteoclasts (cells that break down bone).

4. Taking medications that decrease the absorption of calcium from food, such as aluminum hydroxide gel and corticosteroids (such as prednisone).

5. Taking medications that help to prevent or treat high blood pressure.

6. Furthermore, methods like surgical interventions and hospitalization can also come in handy for treating hypercalcemia-supravalvar aortic stenosis.

7. Surgical interventions can involve replacing or repairing damaged tissue in the body, either by removing it or re-attaching it to another part of the body. This is often done before or after other treatments have been tried first.

8. Surgery may be necessary if there are complications from hypercalcemia-supravalvar aortic stenosis that can't be treated with other methods. Surgery may also be recommended if the patient has trouble taking their medication due to other health issues like kidney disease or liver disease (which could cause side effects from taking bisphosphonates).

9. Hospitalization involves staying overnight at a hospital so doctors can monitor your condition closely during treatment for hypercalcemia-supravalvar aortic stenosis. This includes checking blood levels regularly so they can adjust any medications you're taking as needed to keep your calcium levels in check.

Symptoms
Fatigue and weakness,Loss of appetite,Thirstiness,Abdominal pain or discomfort
Condition
Primary hyperparathyroidism,Secondary hyperparathyroidism,Pseudohypoparathyroidism,Vitamin D intoxication,Hypercalcemia of malignancy
Drugs
Bisphosphonates,Calcitonin,Calcium carbonate,Calcium and vitamin D supplements



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