Aortic Stenosis, Supravalvular
Aortic Valve Stenosis
Williams Syndrome
Pulmonary Valve Stenosis
Aortic Valve
Discrete Subaortic Stenosis
Autografts
Heart Valve Prosthesis Implantation
Aortic Stenosis, Subvalvular
Pericardium
Carotid Stenosis
Heart Valve Prosthesis
Cardiac Catheterization
Mitral Valve Stenosis
Echocardiography, Doppler
Aortic Valve Insufficiency
Echocardiography
Catheterization
Constriction, Pathologic
Pyloric Stenosis
Elastic and collagenous networks in vascular diseases. (1/33)
Supravalvular aortic stenosis (SVAS), Marfan syndrome (MFS) and Ehlers-Danlos syndrome type IV (EDS IV) are three clinical entities characterized by vascular abnormalities that result from mutations of structural components of the extracellular matrix (ECM). Analyses of naturally occurring human mutations and of artificially generated deficiencies in the mouse have provided insights into the pathogenesis of these heritable disorders of the connective tissue. SVAS is associated with haploinsufficiency of elastin, one of the two major components of the elastic fibers. SVAS is characterized by narrowing of the arterial lumen due to the failure of regulation of cellular proliferation and matrix deposition. Mutations in fibrillin 1 are the cause of dissecting aneurysm leading to rupture of the ascending aorta. Fibrillin-1 is the building block of the microfibrils that span the entire thickness of the aortic wall and are a major component of the elastic fibers that reside in the medial layer. The vascular hallmark of EDS IV is rupture of large vessels. The phenotype is caused by mutations in type III collagen. The mutations ultimately affect the overall architecture of the collagenous network and the biomechanical properties of the adventitial layer of the vessel wall. Altogether, these genotype-phenotype correlations document the diversified contributions of distinct extracellular macroaggregates to the assembly and function of the vascular matrix. (+info)Hypoplastic left heart syndrome. (2/33)
Hypoplastic left heart syndrome may be accurately diagnosed during fetal life. Prenatal diagnosis provides the opportunity for parents to make an informed choice about their options, including surgery, nonintervention postnatally or termination of pregnancy. Short to medium term survival continues to improve for a condition that was previously invariably lethal. There continues to be a significant mortality and morbidity associated with hypoplastic left heart syndrome, and the long-term prognosis is unknown. Knowledge of the condition prior to birth means that babies who are to undergo surgery present in optimal condition for such interventions. Parents who have had an affected fetus or child should be offered detailed fetal echocardiography to exclude a recurrence in subsequent pregnancies. (+info)Elastin: mutational spectrum in supravalvular aortic stenosis. (3/33)
Supravalvular aortic stenosis (SVAS) is a congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams syndrome. SVAS is caused by translocations, gross deletions and point mutations that disrupt the elastin gene (ELN) on 7q11.23. Functional hemizygosity for elastin is known to be the cause of SVAS in patients with gross chromosomal abnormalities involving ELN. However, the pathogenic mechanisms of point mutations are less clear. One hundred patients with diagnosed SVAS and normal karyotypes were screened for mutations in the elastin gene to further elucidate the molecular pathology of the disorder. Mutations associated with the vascular disease were detected in 35 patients, and included nonsense, frameshift, translation initiation and splice site mutations. The four missense mutations identified are the first of this type to be associated with SVAS. Here we describe the spectrum of mutations occurring in familial and sporadic SVAS and attempt to define the mutational mechanisms involved in SVAS. SVAS shows variable penetrance within families but the progressive nature of the disorder in some cases, makes identification of the molecular lesions important for future preventative treatments. (+info)Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. (4/33)
To elucidate the pathomechanism leading to obstructive vascular disease in patients with elastin deficiency, we compared both elastogenesis and proliferation rate of cultured aortic smooth-muscle cells (SMCs) and skin fibroblasts from five healthy control subjects, four patients with isolated supravalvular aortic stenosis (SVAS), and five patients with Williams-Beuren syndrome (WBS). Mutations were determined in each patient with SVAS and in each patient with WBS. Three mutations found in patients with SVAS were shown to result in null alleles. RNA blot hybridization, immunostaining, and metabolic labeling experiments demonstrated that SVAS cells and WBS cells have reduced elastin mRNA levels and that they consequently deposit low amounts of insoluble elastin. Although SVAS cells laid down approximately 50% of the elastin made by normal cells, WBS cells deposited only 15% of the elastin made by normal cells. The observed difference in elastin-gene expression was not caused by a difference in the stability of elastin mRNA in SVAS cells compared with WBS cells, but it did indicate that gene-interaction effects may contribute to the complex phenotype observed in patients with WBS. Abnormally low levels of elastin deposition in SVAS cells and in WBS cells were found to coincide with an increase in proliferation rate, which could be reversed by addition of exogenous insoluble elastin. We conclude that insoluble elastin is an important regulator of cellular proliferation. Thus, the reduced net deposition of insoluble elastin in arterial walls of patients with either SVAS or WBS leads to the increased proliferation of arterial SMCs. This results in the formation of multilayer thickening of the tunica media of large arteries and, consequently, in the development of hyperplastic intimal lesions leading to segmental arterial occlusion. (+info)Supravalvular aortic stenosis and peripheral pulmonary stenosis coexisting with a straight thoracic spine. (5/33)
Supravalvular aortic stenosis (SVAS) is recognized in cases of Williams syndrome and in sporadic cases not associated with other features of the syndrome. It is also well recognized as associated with peripheral pulmonary stenosis (PPS). A male patient was diagnosed as having PPS at the age of 1 year and 8 months, and was found at the age of 18 years to have SVAS. Cardiac catheterization showed that he had a localized type of SVAS and regression of the PPS. Chest X-ray showed that he did not have the normal thoracic curvature. His 19-year-old sister had also been diagnosed with PPS, and his 43-year-old mother was known to have a harsh systolic cardiac murmur of unknown etiology. Cardiac magnetic resonance imaging showed a localized type of SVAS in his mother also, though not in his sister, both of whom had a somewhat straight thoracic spine, most noticeably in the mother, though not to the degree observed in the patient. This case appears to be familial, though it is not clear whether this skeletal abnormality is an unknown phenotypic feature of this cardiovascular disease. (+info)Williams syndrome associated with complete atrioventricular septal defect. (6/33)
Williams syndrome is a genetic disorder associated with characteristic facies, supravalvar aortic stenosis, peripheral pulmonary stenosis, mental retardation, hypertension, premature aging of skin, and congenital cardiac defects. Many cardiac defects such as bicuspid aortic valve, mitral valve regurgitation, coarctation of the aorta, and ventricular or atrial septal defects are linked to the syndrome. Complete atrioventricular septal defect has rarely been associated with Williams syndrome and only one necropsy case has been reported in the literature. The long term follow up of Williams syndrome associated with complete atrioventricular septal defect is reported. During a 10 year follow up period, the pressure gradient in the ascending aorta did not increase despite narrowing of the ascending aorta as identified on an aortogram. (+info)Follow-up study of morphology and cardiac function in rats undergoing induction of supravalvular aortic stenosis. (7/33)
OBJECTIVE: To characterize the follow-up of an experimental model of left ventricular hypertrophy (LVH) induced by supravalvular ascending aortic stenosis in young rats. METHODS: Wistar rats were submitted to thoracotomy and aortic stenosis was created by placing a clip on the ascending aorta (AoS group, n=12). Age-matched control animals underwent a sham operation (C group, n=12). Cardiac function was analysed by echocardiograms performed 6, 12, and 21 weeks after aortic banding. Myocardial morphological features and myocardial hydroxyproline concentration (HOP) were evaluated 2, 6, 12, and 21 weeks after surgery in additional animals. RESULTS: Aortic banding promoted early concentric LVH and a progressive increase in HOP. Under light microscopy, we observed myocyte hypertrophy and wall thickening of the intramural branches of the coronary arteries due to medial hypertrophy. Cardiac function was supranormal after 6 weeks (percentage of fractional shortening - EAo6: 70.3 +/- 10.8; C6: 61.3 +/- 5.4; p<0.05), and depressed in the last period. Diastolic dysfunction was detected after 12 weeks (ratio of early-to-late filling velocity - EAo12: 4.20 +/- 3.25; C12: 1.61 +/- 0.16; p<0.05). CONCLUSION: Ascending aortic stenosis promotes concentric LVH with myocardial fibrosis and minimal histological changes. According to the period of evaluation, cardiac function may be improved, normal, or depressed. The model is suitable and useful for studies on pathophysiology and treatment of the different phases of cardiac hypertrophy. (+info)Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study. (8/33)
OBJECTIVE: To estimate the incidence and document the clinical characteristics of Williams-Beuren syndrome in the Hong Kong Chinese population. DESIGN: Cytogenetic analysis and retrospective study. SETTING: Clinical Genetic Service, Department of Health, Hong Kong. PATIENTS: Forty-one Chinese patients with Williams-Beuren syndrome. MAIN OUTCOME MEASURES: From 1 January 1995 to 30 June 2002, fluorescence in situ hybridisation was used to confirm diagnoses in 41 cases of Williams-Beuren syndrome by detecting chromosome 7q microdeletion. Case records were reviewed, the incidence of the condition in the local population was estimated, and the main clinical characteristics were determined. RESULTS: The minimal incidence of Williams-Beuren syndrome in this locality was estimated to be approximately 1 per 23500 live births. Common dysmorphic facial features included periorbital fullness (83%), full lips (80%), a long philtrum (51%), a flat nasal bridge (41%), and abnormal teeth (37%). No patients had a stellate iris. The majority (82%) had at least one documented cardiac anomaly; among these patients, peripheral pulmonary stenosis was diagnosed in 61% and supravalvular aortic stenosis in 45%. Nearly all (93%) of the study group exhibited developmental delay. CONCLUSION: As in the West, patients with Williams-Beuren syndrome in the Hong Kong Chinese population display craniofacial dysmorphism, cardiovascular anomalies, and mental deficiency. Supravalvular aortic stenosis-the cardiac defect most commonly associated with Williams-Beuren syndrome in western countries-is less common than peripheral pulmonary stenosis in this region. Studies involving periodic cardiovascular evaluation are needed to confirm if this difference is significant. (+info)Echocardiography is an essential tool in the diagnosis of SVAS, as it allows for visualization of the aortic valve and the supravalvular aorta. The ultrasound images can help to identify any narrowing or blockage in the aorta and can also assess the function of the left ventricle.
Treatment options for SVAS vary depending on the severity of the condition, but may include medications such as beta blockers to slow the heart rate and reduce blood pressure, and surgery to repair or replace the narrowed or blocked section of the aorta. In some cases, a balloon dilation procedure may be performed during which a balloon is inserted through a catheter into the narrowed section of the aorta and inflated to widen the passage.
The prognosis for individuals with SVAS depends on the severity of the condition and the presence of any other heart defects. In some cases, SVAS may be a mild condition that does not require treatment, while in more severe cases, it can lead to serious complications such as heart failure or stroke if left untreated.
In summary, supravalvular aortic stenosis is a congenital heart defect that occurs when there is narrowing or blockage of the supravalvular aorta, leading to reduced blood flow from the left ventricle into the aorta and downstream vessels. Echocardiography is an essential tool in the diagnosis of SVAS, and treatment options may include medications, surgery, or balloon dilation. The prognosis for individuals with SVAS depends on the severity of the condition and the presence of any other heart defects.
Aortic valve stenosis can be caused by a variety of factors, including aging, calcium buildup, or congenital heart defects. It is typically diagnosed through echocardiography or cardiac catheterization. Treatment options for aortic valve stenosis include medications to manage symptoms, aortic valve replacement surgery, or transcatheter aortic valve replacement (TAVR), which is a minimally invasive procedure.
In TAVR, a thin tube is inserted through a blood vessel in the leg and guided to the heart, where it delivers a new aortic valve. This can be performed through a small incision in the chest or through a catheter inserted into the femoral artery.
While TAVR has become increasingly popular for treating aortic valve stenosis, it is not suitable for all patients and requires careful evaluation to determine the best course of treatment. It is important to discuss the risks and benefits of TAVR with a healthcare provider to determine the appropriate treatment plan for each individual patient.
Physical Features:
* Delayed growth and short stature
* Broad forehead
* Long, narrow face with a wide mouth and full lips
* Wide-set eyes that are often blue or green
* Low-set ears
* Curly or wavy hair
Developmental Features:
* Intellectual disability or cognitive impairment
* Delayed speech and language development
* Difficulty with fine motor skills and hand-eye coordination
* Poor musical ability
Personality Profile:
* Friendly and outgoing personality
* High level of empathy and compassion for others
* Excellent social skills
* Love of music and dance
* Curiosity and playfulness
Causes and Inheritance:
Williams syndrome is caused by a deletion of genetic material from chromosome 7, specifically the q11.23 region. This deletion occurs spontaneously, without a known family history or environmental trigger. The disorder is not inherited in a Mendelian pattern, meaning that it does not follow traditional patterns of inheritance.
Diagnosis:
Williams syndrome can be diagnosed through a combination of physical and developmental assessments, as well as genetic testing. Physical features such as broad foreheads and wide mouths are often present at birth, while developmental delays and cognitive impairments may not become apparent until later in childhood. Genetic testing can confirm the diagnosis by identifying the deletion of genetic material on chromosome 7.
Treatment and Management:
There is no cure for Williams syndrome, but early intervention and specialized management can help individuals with the disorder reach their full potential. Treatment may include:
* Physical therapy to improve fine motor skills and coordination
* Speech and language therapy to improve communication skills
* Occupational therapy to develop daily living skills
* Special education programs tailored to individual needs
* Medications to manage cardiovascular problems, hypertension, and sleep disorders
Prognosis:
The prognosis for individuals with Williams syndrome varies depending on the severity of the symptoms. Some individuals may experience significant developmental delays and cognitive impairments, while others may have fewer or no symptoms. With early intervention and specialized management, many individuals with Williams syndrome can lead fulfilling lives and achieve their full potential.
Inheritance Pattern:
Williams syndrome is not inherited in a Mendelian pattern, meaning that it does not follow traditional patterns of inheritance. The disorder is caused by a spontaneous deletion of genetic material on chromosome 7, and there is no known family history or environmental trigger. Each child of an individual with Williams syndrome has a 50% chance of inheriting the deletion and developing the disorder.
Prenatal Testing:
Prenatal testing for Williams syndrome is available but not routine. The test is typically offered to pregnant women who have a family history of the disorder or who have had a previous child with Williams syndrome. Prenatal testing involves analyzing cells from the developing fetus, usually through chorionic villus sampling (CVS) or amniocentesis.
Genetic Counseling:
Genetic counseling is essential for individuals and families affected by Williams syndrome. A genetic counselor can provide information on the inheritance pattern of the disorder, discuss prenatal testing options, and offer guidance on managing the condition. Genetic counseling can also help families understand the risks and benefits of genetic testing and make informed decisions about their reproductive options.
In conclusion, Williams syndrome is a rare genetic disorder that affects approximately 1 in 10,000 individuals worldwide. It is caused by a spontaneous deletion of genetic material on chromosome 7 and is characterized by developmental delays, cognitive impairments, and cardiovascular problems. Early intervention and specialized management can significantly improve the prognosis for individuals with Williams syndrome. Prenatal testing and genetic counseling are available for families who have a risk of inheriting the disorder. With proper care and support, individuals with Williams syndrome can lead fulfilling lives and achieve their full potential.
There are several causes of PVS, including:
1. Congenital heart defects: PVS can be present at birth due to abnormal development of the pulmonary valve or other structures near the valve.
2. Rheumatic fever: This is an inflammatory disease that can damage the heart valves, including the pulmonary valve.
3. Endocarditis: This is an infection of the heart valves, which can cause scarring and narrowing of the pulmonary valve.
4. Heart disease: PVS can be a complication of other heart conditions, such as hypertension or coronary artery disease.
5. Calcification: Over time, deposits of calcium can accumulate on the valve leaflets, causing them to become stiff and narrow.
Symptoms of PVS may include:
1. Shortness of breath (dyspnea)
2. Fatigue or weakness
3. Chest pain (angina)
4. Swelling in the legs, ankles, or feet (edema)
5. Palpitations or irregular heartbeat
If PVS is suspected, a healthcare provider may perform several tests to confirm the diagnosis, including:
1. Echocardiogram: This is an ultrasound test that uses sound waves to create images of the heart and its valves.
2. Cardiac catheterization: A thin tube (catheter) is inserted into a blood vessel in the arm or leg and guided to the heart to measure pressure and oxygen levels in the chambers.
3. Chest X-ray: This test can help identify any enlargement of the heart or lungs that may be indicative of PVS.
4. Electrocardiogram (ECG): This test measures the electrical activity of the heart and can help identify irregular heart rhythms or other signs of PVS.
Treatment for PVS may include:
1. Medications to manage symptoms, such as diuretics to reduce fluid buildup in the body, and ACE inhibitors or beta blockers to lower blood pressure.
2. Lifestyle changes, such as a healthy diet, regular exercise, and stress reduction techniques.
3. Valve repair or replacement surgery: In severe cases of PVS, surgery may be necessary to repair or replace the affected valve.
If you suspect you may have PVS, it is important to seek medical attention as soon as possible to receive an accurate diagnosis and appropriate treatment. With prompt and proper treatment, many people with PVS are able to manage their symptoms and improve their quality of life.
Source:
MedicineNet. (n.d.). Discrete Subaortic Stenosis. Retrieved from
Symptoms include chest pain, shortness of breath, fainting, and fatigue. Diagnosis is made through echocardiography or cardiac catheterization. Treatment options range from medications to manage symptoms, balloon dilation or surgical replacement of the aortic valve.
In summary, subvalvular aortic stenosis is a rare type of aortic stenosis that affects the area below the aortic valve and can cause various symptoms due to reduced blood flow and increased pressure in the left ventricle.
There are two main types of carotid stenosis:
1. Internal carotid artery stenosis: This type of stenosis occurs when the internal carotid artery, which supplies blood to the brain, becomes narrowed or blocked.
2. Common carotid artery stenosis: This type of stenosis occurs when the common carotid artery, which supplies blood to the head and neck, becomes narrowed or blocked.
The symptoms of carotid stenosis can vary depending on the severity of the blockage and the extent of the affected area. Some common symptoms include:
* Dizziness or lightheadedness
* Vertigo (a feeling of spinning)
* Blurred vision or double vision
* Memory loss or confusion
* Slurred speech
* Weakness or numbness in the face, arm, or leg on one side of the body
If left untreated, carotid stenosis can lead to a stroke or other serious complications. Treatment options for carotid stenosis include medications to lower cholesterol and blood pressure, as well as surgical procedures such as endarterectomy (removing plaque from the artery) or stenting (placing a small mesh tube in the artery to keep it open).
In conclusion, carotid stenosis is a serious medical condition that can lead to stroke and other complications if left untreated. It is important to seek medical attention if symptoms persist or worsen over time.
Examples of syndromes include:
1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.
Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.
The severity of coronary stenosis can range from mild to severe, with blockages ranging from 15% to over 90%. In mild cases, lifestyle changes and medication may be enough to manage symptoms. However, more severe cases typically require interventional procedures such as angioplasty or bypass surgery to improve blood flow to the heart.
Symptoms of spinal stenosis may include:
* Pain in the neck, back, or legs that worsens with walking or standing
* Numbness, tingling, or weakness in the arms or legs
* Difficulty controlling bladder or bowel functions
* Muscle weakness in the legs
Treatment for spinal stenosis may include:
* Pain medications
* Physical therapy to improve mobility and strength
* Injections of steroids or pain relievers
* Surgery to remove bone spurs or decompress the spinal cord
It is important to seek medical attention if symptoms of spinal stenosis worsen over time, as untreated condition can lead to permanent nerve damage and disability.
Tracheal stenosis can be caused by a variety of factors, including:
* Inflammation or infection of the trachea (such as from allergies or bacterial infections)
* Scar tissue or tumors in the trachea
* Trauma to the neck or throat
* Previous surgery or radiation therapy to the head and neck
* Congenital conditions, such as a narrow or malformed trachea
Symptoms of tracheal stenosis can vary depending on the severity of the condition, but may include:
* Difficulty breathing or shortness of breath
* Wheezing or stridor (a high-pitched sound when breathing in)
* Coughing or choking sensation
* Fatigue or weakness from difficulty breathing
* Blue tinge to the skin (cyanosis)
If you suspect you or someone else may have tracheal stenosis, it is important to seek medical attention as soon as possible. A healthcare provider can diagnose tracheal stenosis through a physical examination and imaging tests such as X-rays, CT scans, or endoscopy.
Treatment for tracheal stenosis depends on the cause and severity of the condition, but may include:
* Medications to reduce inflammation or open up the airways (such as inhaled steroids or bronchodilators)
* Surgery to widen or bypass the narrowed section of the trachea (such as a tracheostomy or laser therapy)
* Oxygen therapy to help improve oxygen levels in the blood
Early diagnosis and treatment are important to prevent complications of tracheal stenosis, such as respiratory failure, pneumonia, or other infections. With appropriate treatment, many people with tracheal stenosis can experience improvement in their symptoms and quality of life.
Mitral valve stenosis can be caused by a variety of factors, including:
* Calcification of the mitral valve due to aging or rheumatic fever
* Scarring of the mitral valve due to heart disease or injury
* Birth defects that affect the development of the mitral valve
* Rheumatoid arthritis, which can cause inflammation and scarring of the mitral valve
Symptoms of mitral valve stenosis may include:
* Shortness of breath
* Fatigue
* Swelling in the legs, ankles, and feet
* Chest pain
* Dizziness or lightheadedness
* Palpitations
If you suspect you or someone else may have mitral valve stenosis, it is important to seek medical attention as soon as possible. A healthcare provider can perform a physical examination and order diagnostic tests such as an echocardiogram or electrocardiogram to confirm the diagnosis and determine the severity of the condition. Treatment for mitral valve stenosis may include medications to manage symptoms, lifestyle changes, or surgery to repair or replace the mitral valve. With timely and appropriate treatment, many people with mitral valve stenosis can lead active and fulfilling lives.
There are several causes of aortic valve insufficiency, including:
1. Congenital heart defects
2. Rheumatic fever
3. Endocarditis (infection of the inner lining of the heart)
4. Aging and wear and tear on the valve
5. Trauma to the chest
6. Connective tissue disorders such as Marfan syndrome or Ehlers-Danlos syndrome.
Symptoms of aortic valve insufficiency can include fatigue, shortness of breath, swelling in the legs and feet, and chest pain. Diagnosis is typically made through a combination of physical examination, echocardiogram (ultrasound of the heart), electrocardiogram (ECG or EKG), and chest X-ray.
Treatment options for aortic valve insufficiency depend on the severity of the condition and may include:
1. Medications to manage symptoms such as heart failure, high blood pressure, and arrhythmias (abnormal heart rhythms)
2. Lifestyle modifications such as a healthy diet and regular exercise
3. Repair or replacement of the aortic valve through surgery. This may involve replacing the valve with an artificial one, or repairing the existing valve through a procedure called valvuloplasty.
4. In some cases, catheter-based procedures such as balloon valvuloplasty or valve replacement may be used.
It is important to note that aortic valve insufficiency can lead to complications such as heart failure, arrhythmias, and endocarditis, which can be life-threatening if left untreated. Therefore, it is important to seek medical attention if symptoms persist or worsen over time.
There are several different types of calcinosis, each with its own unique causes and symptoms. Some common forms of calcinosis include:
1. Dystrophic calcinosis: This type of calcinosis occurs in people with muscular dystrophy, a group of genetic disorders that affect muscle strength and function. Dystrophic calcinosis can cause calcium deposits to form in the muscles, leading to muscle weakness and wasting.
2. Metastatic calcinosis: This type of calcinosis occurs when cancer cells spread to other parts of the body and cause calcium deposits to form. Metastatic calcinosis can occur in people with a variety of different types of cancer, including breast, lung, and prostate cancer.
3. Idiopathic calcinosis: This type of calcinosis occurs for no apparent reason, and the exact cause is not known. Idiopathic calcinosis can affect people of all ages and can cause calcium deposits to form in a variety of different tissues.
4. Secondary calcinosis: This type of calcidosis occurs as a result of an underlying medical condition or injury. For example, secondary calcinosis can occur in people with kidney disease, hyperparathyroidism (a condition in which the parathyroid glands produce too much parathyroid hormone), or traumatic injuries.
Treatment for calcinosis depends on the underlying cause and the severity of the condition. In some cases, treatment may involve managing the underlying disease or condition that is causing the calcium deposits to form. Other treatments may include medications to reduce inflammation and pain, physical therapy to improve mobility and strength, and surgery to remove the calcium deposits.
Some examples of pathologic constrictions include:
1. Stenosis: A narrowing or constriction of a blood vessel or other tubular structure, often caused by the buildup of plaque or scar tissue.
2. Asthma: A condition characterized by inflammation and constriction of the airways, which can make breathing difficult.
3. Esophageal stricture: A narrowing of the esophagus that can cause difficulty swallowing.
4. Gastric ring constriction: A narrowing of the stomach caused by a band of tissue that forms in the upper part of the stomach.
5. Anal fissure: A tear in the lining of the anus that can cause pain and difficulty passing stools.
Pathologic constrictions can be caused by a variety of factors, including inflammation, infection, injury, or genetic disorders. They can be diagnosed through imaging tests such as X-rays, CT scans, or endoscopies, and may require surgical treatment to relieve symptoms and improve function.
The symptoms of pyloric stenosis may include:
1. Vomiting, which may be projectile and forceful
2. Abdominal pain, often located in the upper abdomen
3. Dehydration, as vomiting can lead to a loss of fluids and electrolytes
4. Hunger and irritability due to poor feeding
5. Fever
Pyloric stenosis is usually diagnosed through a combination of physical examination, medical history, and diagnostic tests such as an ultrasound or endoscopy. Treatment for pyloric stenosis typically involves surgery to widen the pylorus and allow for easier digestion. In some cases, medications may be used to help manage symptoms until surgery can be performed.
It's important to seek medical attention if you or your child experiences any of these symptoms, as pyloric stenosis can lead to complications such as dehydration and malnutrition if left untreated. With prompt treatment, however, most people with pyloric stenosis can expect a full recovery.
Supravalvular aortic stenosis
Elastin
Williams syndrome
Ed Helms
Haploinsufficiency
The Market Common
Shone's syndrome
List of dog diseases
List of MeSH codes (C14)
Arterial switch operation
List of diseases (A)
Supravalvular aortic stenosis - About the Disease - Genetic and Rare Diseases Information Center
Supravalvular aortic stenosis: MedlinePlus Genetics
Supravalvular aortic stenosis: MedlinePlus Genetics
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SVAS11
- Supravalvular aortic stenosis (SVAS) is a type of heart defect. (nih.gov)
- Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. (medlineplus.gov)
- Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs ( the pulmonary artery ). (medlineplus.gov)
- If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure. (medlineplus.gov)
- Aortic narrowing causes the heart to work harder to pump blood through the aorta, resulting in the signs and symptoms of SVAS. (medlineplus.gov)
- Williams-Beuren syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) are rare diseases caused by changes in a part of a person s DNA. (nih.gov)
- Symptoms of both conditions include vascular problems including narrow blood vessels and supravalvular aortic stenosis (SVAS) or supravalvular pulmonary stenosis. (nih.gov)
- People with Williams Syndrome (WS) and supravalvular aortic stenosis (SVAS) have less elasticity in their blood vessels. (nih.gov)
- A form of cardiovascular disease called supravalvular aortic stenosis (SVAS) occurs frequently in people with Williams syndrome. (somo.org)
- Patients with WS frequently suffer from hypertension and focal stenoses including supravalvular aortic stenosis (SVAS). (nih.gov)
- C, a common disease allele for SVAS (supravalvular aortic stenosis). (wustl.edu)
Supravalvar aortic stenosis1
- Congenital supravalvar aortic stenosis: a simple lesion? (nih.gov)
Bicuspid6
- Copy number variants identified in thoracic aortic aneurysms and dissections, bicuspid aortic valve related aortopathy, Williams-Beuren syndrome and Turner syndrome are discussed in detail. (lww.com)
- The left-sided lesions defined were supramitral membrane, mitral parachute valve, mitral valve stenosis, subaortic stenosis, bicuspid aortic valve, and supravalvular aortic stenosis. (thechipnetwork.org)
- 72% of patients had left-sided cardiac lesions, with the majority having bicuspid aortic valves. (thechipnetwork.org)
- Although the bicuspid aortic valve is the most common postnatal diagnosis, the other associated left heart lesions occur infrequently and cause high morbidity. (thechipnetwork.org)
- The most common type, usually associated with a bicuspid aortic valve. (empendium.com)
- Endothelial damage happens at a faster rate in bicuspid aortic valves than in tricuspid aortic valves as a result of the difference in distribution of stress forces on the valvular cusps. (wikidoc.org)
Genetic3
- Supravalvular aortic stenosis is a genetic disease, which means that it is caused by one or more genes not working correctly. (nih.gov)
- 13. Genetic aspects of supravalvular aortic stenosis. (nih.gov)
- Genetic predisposition plays a role in the rate of progression of aortic stenosis. (wikidoc.org)
Pulmonary2
- Symptomatic seven patients with pulmonary stenosis and three patients with aortic stenosis applied balloon angioplasty. (erciyes.edu.tr)
- Other features include increased accentuation of the second heart sound (resulting from increased aortic pressures proximal to the stenosis), very distinct radiation of the murmur and the thrill to the carotid arteries, and a late systolic or holosystolic murmur caused by stenosis of the peripheral pulmonary arteries. (empendium.com)
Section of the aorta2
- It is characterized by a narrowing (stenosis) of the section of the aorta just above the valve that connects the aorta to the heart (aortic valve). (nih.gov)
- The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). (medlineplus.gov)
Aorta4
- This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). (medlineplus.gov)
- It is worthwhile to note other forms of severe LVOT obstruction like valvular, supra valvular stenosis, and Aortic pathologies like Marfan, coarctation aorta are serious entities that deserve prompt cesarian sections. (drsvenkatesan.com)
- Left ventricular outflow tract obstruction may develop as a result of defects of the aortic valve, defects of the adjacent parts of the left ventricle ( LV ), and defects of the ascending aorta that cause obstruction of the outflow of blood from the LV. (empendium.com)
- Cardiac magnetic resonance imaging ( MRI ) or computed tomography ( CT ) should be performed in individuals with supravalvular aortic stenosis and those with multilevel stenosis to delineate the locations of stenosis and identify additional lesions in the aorta and the peripheral vessels (such as renal arteries). (empendium.com)
Rheumatic aortic1
- In contrast, rheumatic aortic stenosis is due to the fusion of the commissures with valvular scarring and calcification. (wikidoc.org)
Mental retardation2
- This syndrome was characterized by supravalvular aortic stenosis, elfin facies, and mental retardation. (nih.gov)
- It is secondary to microdeletion of a fragment in the long arm of chromosome 7, which contains several candidate genes for the characteristic phenotype of typical facies, supravalvular aortic stenosis, and variable mental retardation with a friendly personality. (univalle.edu.co)
Regurgitation2
- In subvalvular stenosis, a loud ejection murmur with a systolic thrill along the left sternal border (in severe stenosis) and diastolic murmur of aortic regurgitation ( AR ) (common) are present. (empendium.com)
- Subvalvular membranous stenosis can be progressive and often leads to significant aortic regurgitation. (empendium.com)
Fibrosis2
- Calcific aortic stenosis, in particular, is an active atherosclerotic pathology where inflammation, fibrosis, and calcification are involved in the progressive narrowing of the effective aortic valve area in the absence of any commissural fusion. (wikidoc.org)
- However, recent studies have revealed that the underlying pathophysiology of calcific aortic stenosis is active inflammation, fibrosis, and calcification. (wikidoc.org)
Valve Disease2
- In this review, we will discuss the current knowledge about the involvement of structural genomic variants and, in particular, copy number variants in the development of thoracic aortic and aortic valve disease. (lww.com)
- Although copy number variants are now often investigated on a routine basis in diagnostic laboratories, more complex structural variants such as inversions, which require the use of whole genome sequencing, are still relatively new to the field of thoracic aortic and aortic valve disease. (lww.com)
Subaortic1
- Twelve patients underwent 30 interventions for additional heart lesions, 6 for supramitral membrane, 10 for MV stenosis, 8 for subaortic membrane, one for Ross-Konno, 4 for aortic valve stenosis, and one for aortic valve stenosis, and one for supravalvar stenosis. (thechipnetwork.org)
Williams Syndrome2
- Researchers want to see how blood vessel differences in people with Williams Syndrome and supravalvular aortic stenosis affect organs in the body including the heart, gut, kidneys, and brain. (nih.gov)
- The majority of her work is focused on the study of two elastin insufficiency-related diseases: Williams syndrome, a neurodevelopmental condition, and isolated supravalvular aortic stenosis. (nih.gov)
Dissection1
- Gross anatomy dissection may be used as a diagnostic tool in the evaluation of aortic stenosis. (wikidoc.org)
Focal1
- Blood vessels may have focal narrowings called stenoses or may just be globally more narrow. (nih.gov)
Subvalvular1
- Aortic stenosis causes an impedance to the antegrade blood flow not only at the level of the aortic valve itself but also at the subvalvular ( below the aortic valve ) or supravalvular ( above the aortic valve ) levels. (wikidoc.org)
Disease3
- Hence, aortic stenosis is a progressive valvular disease which progression depends mainly on the degree of the narrowing of the aortic valve as well as on the maladaptive ventricular wall response. (wikidoc.org)
- Aortic stenosis may result in a form of von Willebrand disease due to an increased turbulence around the stenosed aortic valve which subsequently triggers the break down of coagulation factor VIII -associated antigen, (also called von Willebrand factor ) and thus results in a variant of von Willebrand disease . (wikidoc.org)
- Calcific aortic stenosis has long been thought to be the result of prolonged wear and tear mechanism and age-related degeneration of the valvular cusps as opposed to cusp fusion of the aortic valve in rheumatic heart disease. (wikidoc.org)
Patients4
- In rest of the patients, stenosis did not worsen. (erciyes.edu.tr)
- Eleven ( 12%) patients had surgical/transcatheter reintervention on the aortic arch after the initial repair. (thechipnetwork.org)
- 2. Symptoms depend on the severity of stenosis and do not differ significantly from those found in patients with acquired valvular aortic stenosis. (empendium.com)
- Coronary angiography should be performed in all patients with supravalvular aortic stenosis undergoing surgical correction (CT coronary angiography may be performed). (empendium.com)
Individuals1
- In individuals with supravalvular aortic stenosis, the systolic blood pressure in the right arm is higher than the left arm. (empendium.com)
Symptoms1
- When Do Symptoms of Supravalvular aortic stenosis Begin? (nih.gov)
Findings1
- Common findings associated with aortic stenosis include left ventricular hypertrophy and heart block . (wikidoc.org)
Severe1
- Tunnel stenosis is usually severe and requires surgery. (empendium.com)
Mechanical3
- There is an unmet clinical need for an alternative to warfarin, such as a direct oral anticoagulant (DOAC), as anticoagulation in participants with an aortic mechanical prosthetic valve. (clinicaltrials.gov)
- All of these factors drive younger participants in need of aortic valve replacement (AVR) toward selection of a tissue valve instead of a mechanical valve. (clinicaltrials.gov)
- Inclusion Criterion: Implantation of an On-X mechanical valve in the aortic position at least 3 months (90 days) ago. (clinicaltrials.gov)
Heart3
- The purpose of this study is to determine if participants with an On-X Prosthetic Heart Valve / On-X aortic valve can be maintained safely and effectively on apixaban. (clinicaltrials.gov)
- In people with significant stenosis, a fourth heart sound is often present. (empendium.com)
- Slow compensatory mechanisms occur in the heart to adapt to the pressure changes caused by aortic stenosis. (wikidoc.org)
Similar2
- Animal reproduction studies have shown fetal abnormalities in several species associated with hypervitaminosis D. These are similar to the supravalvular aortic stenosis syndrome described in infants by Black in England (1963). (nih.gov)
- Similar auscultatory signs are seen in supravalvular stenosis, but usually without the diastolic murmur. (empendium.com)
Progressive1
- Aortic stenosis is the progressive narrowing of the aortic valve . (wikidoc.org)
