Supravalvular aortic stenosis (SVAS) is a rare genetic condition associated with the narrowing of the aorta, the main artery that carries blood from the heart to the rest of the body. It is caused by a mutation in the elastin gene, which affects the production of elastin, a protein that provides flexibility to the walls of the artery. This condition is also known as “SVAS” or “sub-aortic stenosis.”

SVAS is inherited in an autosomal dominant manner, which means that a person with the mutation has a 50% chance of passing it on to their children. However, in some cases, SVAS can occur sporadically without a family history of the condition. The genetic mutation responsible for SVAS is located on chromosome 7.

The symptoms of SVAS can vary from mild to severe, depending on the degree of narrowing of the aorta. Common symptoms include shortness of breath, chest pain, and fatigue. In some cases, SVAS can lead to more serious complications, such as heart failure or high blood pressure.

Diagnosis of SVAS typically involves a physical examination, echocardiogram, and genetic testing. Genetic testing can help confirm the presence of the elastin gene mutation and assist with determining the appropriate treatment approach. There is currently no cure for SVAS, but treatment options include medications to manage symptoms, surgical interventions to repair or replace the narrowed portion of the aorta, and regular monitoring of heart health.

For more information about SVAS, genetic inheritance, and ongoing research and clinical trials, you can visit websites such as the Genetic and Rare Diseases Information Center (GARD), Online Mendelian Inheritance in Man (OMIM), clinicaltrials.gov, and patient advocacy and support groups. These resources provide additional information, articles, and support for patients and their families affected by this rare condition.

Frequency

Supravalvular aortic stenosis (SVAS) is a rare genetic condition characterized by the narrowing of the aorta, the main artery that carries oxygen-rich blood from the heart to the rest of the body. This narrowing reduces the flexibility and elasticity of the artery, resulting in increased pressure on the heart and potentially leading to various symptoms and complications.

In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

The frequency of SVAS is estimated to be around 1 in 20,000 to 30,000 births. It is a relatively rare condition but can have significant impact on the affected individuals and their families.

SVAS is caused by a mutation in the elastin (ELN) gene. In addition to ELN, other genes have also been associated with SVAS, including genes involved in the production and structure of elastin. Studies have shown that mutations in these genes can disrupt the normal development of the aorta, leading to the narrowing and stiffness seen in SVAS.

There are several resources available for more information about SVAS, including patient support and advocacy groups, scientific research articles, and genetic testing centers. The National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) provides comprehensive information about SVAS and other rare diseases. The GARD website contains a catalog of articles, clinical studies, and additional resources about SVAS, as well as information on genetic testing and available support.

For more scientific and clinical information, PubMed and OMIM (Online Mendelian Inheritance in Man) provide access to a wide range of research articles and genetic studies on SVAS. ClinicalTrials.gov is another valuable resource that lists ongoing and completed clinical trials related to SVAS.

In conclusion, SVAS is a rare genetic condition characterized by the narrowing of the aorta. It affects the flexibility and elasticity of the artery, leading to symptoms and complications. The frequency of SVAS is relatively low, but resources such as patient support groups, scientific research articles, and genetic testing centers provide valuable information and support for individuals and families affected by this condition.

Causes

Supravalvular aortic stenosis (SVAS) is a condition caused by a narrowing of the aorta, the main artery that carries blood from the heart to the body. The narrowing is present above the aortic valve, preventing normal blood flow.

SVAS is typically caused by a mutation in the elastin gene (ELN), which is responsible for producing the protein elastin that provides flexibility and strength to the arterial walls. This mutation leads to the production of an abnormal elastin protein, resulting in the stiffening and narrowing of the artery.

SVAS can be inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, SVAS can also occur sporadically, without a family history.

The symptoms of SVAS can vary depending on the severity of the stenosis. Some common symptoms include shortness of breath, chest pain, fatigue, and fainting. In severe cases, SVAS can lead to heart failure or sudden cardiac death.

There are additional genes that have been associated with SVAS, such as the NF1 gene and the GTF2I gene. However, mutations in the elastin gene are the most common cause of SVAS.

For more information about SVAS and the associated genes, the OMIM database (Online Mendelian Inheritance in Man) provides comprehensive information on genetic diseases. The SVAS entry can be found in OMIM under the name “Supravalvular Aortic Stenosis”.

Support and additional information for patients with SVAS can be found from organizations like the Supravalvular Aortic Stenosis Support Center and the Advocate Health Care’s Supravalvar Aortic Stenosis Clinic. These organizations provide resources, support, and advocacy for patients and families affected by the condition.

Genetic testing can be done to confirm the diagnosis of SVAS and identify the specific gene mutation. Information about ongoing clinical trials and research studies related to SVAS can be found on websites such as ClinicalTrials.gov and the Genetests Clinical Trials Registry.

In summary, SVAS is a rare condition caused by the narrowing of the aorta above the aortic valve. This narrowing is typically caused by mutations in the elastin gene. Other genes have also been associated with SVAS, but mutations in the elastin gene are the most common. Genetic testing can confirm the diagnosis, and support and information can be found from various organizations and databases.

Learn more about the gene associated with Supravalvular aortic stenosis

Supravalvular aortic stenosis (SVAS) is a rare condition that affects the aortic artery, causing narrowing or constriction of the blood flow. This condition is often inherited and has been associated with a specific gene known as the elastin gene.

The elastin gene, also called ELN, provides instructions for making elastin, a protein that gives tissues, including blood vessels, the required flexibility and elasticity. Mutations in this gene can disrupt the normal production or structure of elastin, leading to SVAS.

If you or someone you know has been diagnosed with SVAS, it is important to consider genetic testing. Genetic testing can help identify mutations in the elastin gene and assist in the diagnosis and management of the condition. Testing can also provide information about the inheritance pattern and determine the chances of passing the condition on to future generations.

For additional information about SVAS and the elastin gene, you can visit the Genetic and Rare Diseases Information Center. They provide a comprehensive overview of the condition, along with resources and support for patients and their families.

Scientific articles and studies related to SVAS and the elastin gene can be found on various databases, such as PubMed Central, OMIM, and PubMed. These databases host a wealth of information and can be used to stay updated on the latest research and advancements in the field.

Furthermore, clinical trials related to SVAS and the elastin gene may be listed on ClinicalTrials.gov. Participating in these trials can contribute to the advancement of knowledge and treatment options for this condition.

Advocacy organizations, such as the SVAS Support and Research, provide additional resources and support for individuals and families affected by SVAS. These organizations can help connect you with other individuals who have the condition and provide guidance on managing the symptoms and challenges associated with it.

In summary, Supravalvular aortic stenosis is a rare condition often caused by mutations in the elastin gene. Genetic testing can be beneficial in diagnosing and managing the condition, as well as determining the chances of inheriting it. Various resources, including scientific articles, clinical trials, and advocacy organizations, are available to provide additional information and support to patients and their families.

Inheritance

Supravalvular aortic stenosis (SVAS) is a rare genetic condition that affects the aortic artery. It is caused by a mutation in the elastin gene (ELN), which leads to the thickening and narrowing of the aortic valve and artery. SVAS is inherited in an autosomal dominant manner, which means that an individual who has the mutation has a 50% chance of passing it on to their children.

There are three types of SVAS: classical SVAS, arteriopathy associated with the Williams-Beuren syndrome (WBS), and elastin arteriopathy associated with SVAS. The classical form is the most common and is not associated with any other genetic conditions. WBS-associated SVAS occurs in individuals with Williams-Beuren syndrome, a rare genetic disorder characterized by developmental delays and distinctive facial features.

SVAS can also occur as a result of other genetic conditions, such as Williams syndrome, Alagille syndrome, or Noonan syndrome. These conditions have their own unique set of symptoms and genetic causes.

It is important for individuals diagnosed with SVAS and their families to learn as much as possible about the condition. There are several resources available to provide information and support for patients and their families. The Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) database are valuable sources of scientific information about SVAS and related conditions. There are also advocacy organizations and support groups, such as the Supravalvular Aortic Stenosis (SVAS) Support and Advocacy Group, that can provide additional resources and support.

Genetic testing can be done to confirm a diagnosis of SVAS and to determine the specific gene mutation responsible for the condition. This information can be useful for understanding the inheritance pattern of SVAS in a family and for providing information and support to other family members.

Research studies are ongoing to learn more about the frequency and causes of SVAS, as well as potential treatment options. ClinicalTrials.gov is a valuable resource for finding information about ongoing research studies and clinical trials related to SVAS and other genetic conditions. There are also scientific articles and references available through PubMed and other research databases that provide more information about SVAS and related topics.

In summary, SVAS is a rare condition with a genetic cause. It can be inherited in an autosomal dominant manner and can also occur as a result of other genetic conditions. Resources and support are available to individuals and families affected by SVAS to learn more about the condition, genetic testing, and potential treatment options.

Other Names for This Condition

• Supravalvular aortic stenosis (SVAS)
• Supravalvular aortic narrowing
• Supravalvular aortic coarctation
• SVAS
• Supravalvar stenosis
• Elastin arteriopathy
• Williams syndrome, atypical form

Supravalvular aortic stenosis (SVAS), also known as supravalvular aortic narrowing or supravalvular aortic coarctation, is a rare condition associated with the narrowing of the aorta, the main artery that carries blood away from the heart. This narrowing can affect the blood flow and lead to symptoms such as chest pain, shortness of breath, and fatigue. SVAS is often caused by genetic mutations that affect the production or flexibility of elastin, a protein that provides strength and elasticity to the arterial walls.

Research studies and genetic testing have identified several genes associated with SVAS, including the ELN gene. Mutations in the ELN gene can disrupt the production of elastin and contribute to the development of this condition. The frequency of these gene mutations varies among different populations. Additional research is needed to understand the exact causes and inheritance patterns of SVAS.

Support and resources for patients with SVAS and their families can be found from various organizations and advocacy groups. The National Institute of Health’s genetic and rare diseases information center (GARD) provides comprehensive information about SVAS, including genetic testing, clinical trials, and articles about ongoing research. The Online Mendelian Inheritance in Man (OMIM) database also offers a wealth of scientific information on genes associated with this condition.

PubMed, a database of scientific articles, can be a valuable resource for staying up-to-date on the latest research studies and findings related to SVAS. ClinicalTrials.gov is another useful resource for finding ongoing clinical trials and studies related to SVAS and gene testing. These resources provide support and information for individuals with SVAS and their families.

Additional Information Resources

If you would like to learn more about Supravalvular aortic stenosis (SVAS), here are some additional resources that provide valuable information, support, and research on this rare condition:

1. Causes and Inheritance: Genetic Testing Registry (GTR) – This database provides information on genes associated with SVAS, as well as the frequency and inheritance patterns of the condition. Visit the GTR website for more details.
2. Symptoms and Diagnosis: OMIM – The Online Mendelian Inheritance in Man (OMIM) database contains detailed information on the symptoms, diagnosis, and clinical characteristics of SVAS. You can access the OMIM website for more information.
3. Support and Advocacy: The Supravalvular Aortic Stenosis Support Center – This organization offers support, resources, and advocacy for patients and families affected by SVAS. Visit their website to connect with others and access helpful information.
4. Research and Clinical Trials: ClinicalTrials.gov – This website provides information on current studies and clinical trials related to SVAS. You can search for studies that are investigating potential treatments, genetic factors, and more. Visit ClinicalTrials.gov for more details.
5. Scientific Articles and Publications: PubMed – PubMed is a database of scientific articles and publications. You can search for research studies, case reports, and other relevant literature on SVAS. Access PubMed to find the latest studies and information.
6. Elastin Gene Catalog: Elastin Gene (ELN) Catalog – SVAS is often associated with mutations in the elastin gene. The ELN Catalog provides comprehensive information on this gene, including genetic variants and their clinical implications. Visit the ELN Catalog for more details.

These resources can provide you with additional information on SVAS, including its causes, symptoms, testing options, support networks, and ongoing research. Take advantage of these resources to learn more about this rare condition and connect with others who are affected by it.

Genetic Testing Information

Genetic testing can be an important tool in the diagnosis and management of supravalvular aortic stenosis (SVAS). Understanding the genetic basis of this condition can provide valuable support for patients and their families.

The SVAS Genetic Support (SVAS Support) is an advocacy group that provides resources and support for patients with SVAS and their families. They offer information on genetic testing and other resources for rare genetic diseases, including SVAS. Their website is a valuable source of information for patients and families looking to learn more about the condition and its genetic causes.

The SVAS Support website provides information on the genes associated with SVAS, including the elastin gene. The elastin gene is the most commonly associated gene with SVAS, but mutations in other genes have also been identified. Patients and families can learn more about these genes and their role in the development of SVAS.

For more scientific and clinical information on SVAS and genetic testing, there are several references available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetics of SVAS, including references to relevant scientific articles and studies. PubMed, a central repository of scientific articles, also has a wealth of information on SVAS and genetic testing.

In addition to learning more about the genetics of SVAS, patients and families may be interested in participating in research studies or clinical trials. ClinicalTrials.gov is a comprehensive database of ongoing clinical trials, including those focused on SVAS and genetic testing. Patients can search for studies or trials that are currently recruiting participants and learn more about how to get involved.

Genetic testing can provide valuable information for patients and families affected by SVAS. It can help confirm a diagnosis, determine inheritance patterns, and provide information on the frequency of the condition in a given population. With this information, patients and families can make informed decisions about their care and treatment options.

Genetic and Rare Diseases Information Center

At the Genetic and Rare Diseases Information Center (GARD), you can learn about a condition called supravalvular aortic stenosis (SVAS). SVAS is a genetic condition that affects the flexibility and function of the aortic artery. It is also known as supravalvular aortic narrowing or supravalvular aortic coarctation.

People with SVAS inherit a genetic mutation that affects the elastin gene. Elastin is an important protein that gives elasticity to blood vessels and other tissues. When the elastin gene is mutated, it can lead to the development of SVAS.

To learn more about SVAS and its causes, you can refer to the OMIM database or consult scientific articles and research studies available on PubMed. These resources provide information on the genetic basis and inheritance patterns of SVAS.

In addition, GARD can provide information on the symptoms, diagnosis, and treatment options for SVAS. You can also find support and advocacy organizations that offer resources and support for individuals and families affected by this rare condition.

If you are interested in participating in research studies or clinical trials related to SVAS, you can find information on ClinicalTrials.gov. This website lists ongoing studies and trials that are investigating new treatments or gathering data on the condition.

In summary, GARD is a valuable resource for information on rare genetic diseases like SVAS. Whether you are seeking information for yourself, a family member, or a patient, GARD can provide the support and additional resources you need to navigate this condition.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with supravalvular aortic stenosis (SVAS), there are several resources available to provide support, information, and advocacy. SVAS is a rare genetic condition that affects the elasticity and flexibility of the artery walls.

One resource you can turn to for information is PubMed. PubMed is a database of scientific articles and research studies. You can search for the term “supravalvular aortic stenosis” to find articles and studies about this condition and the genes associated with it.

Another resource is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides information about genetic diseases, including SVAS. You can search for the gene associated with this condition to learn more about its frequency and the symptoms it causes.

The Genetic and Rare Diseases Information Center (GARD) is another valuable resource. GARD provides information and support for patients and their families affected by rare diseases. They have a catalog of rare diseases, including SVAS, and information on support groups and clinical trials.

For additional support and advocacy, you can reach out to patient support organizations such as the Supravalvular Aortic Stenosis Foundation (SVASF). These organizations provide support, resources, and information to individuals and families affected by SVAS.

If genetic testing is recommended for you or your loved one, you can consult with a genetics professional or genetic counselor. They can help explain the testing process, provide information on the genes involved in SVAS, and offer guidance on next steps.

By utilizing these resources, you can gain a better understanding of SVAS and connect with others who are going through similar experiences. Remember, you are not alone, and there is support available to help you navigate this condition.

Research Studies from ClinicalTrialsgov

Supravalvular aortic stenosis (SVAS) is a rare genetic condition caused by mutations in the elastin gene. It is also called Williams-Beuren syndrome. SVAS is associated with a narrowing of the central artery that carries blood from the heart to the rest of the body. This condition is characterized by symptoms such as breathlessness, chest pain, and fatigue.

ClinicalTrialsgov provides valuable resources and information for patients and researchers to learn more about SVAS. The website offers a catalog of research studies related to the genetic causes, inheritance, and associated diseases of SVAS. By searching for the name of the gene, elastin, on ClinicalTrialsgov, patients can find additional information and support.

More scientific articles about SVAS can be found on PubMed, a database of scientific publications. PubMed provides references to articles, including those available as full text or as epub ahead of print. These articles provide further insight into the genetic basis, symptoms, and treatment options for SVAS.

Patients with SVAS and their families can also find support and advocacy through organizations that focus on rare diseases. These organizations provide information, patient support groups, and resources for genetic testing and counseling. The National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) are two such resources.

In conclusion, ClinicalTrialsgov and other resources offer a wealth of information for patients and researchers studying SVAS. Research studies on ClinicalTrialsgov provide opportunities to learn about the genetic causes of SVAS and develop new treatments. Patients can also find support and resources through advocacy organizations like NORD and GARD. Overall, these resources are essential for advancing the understanding and management of this rare condition.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a scientific catalog of genes and diseases. It serves as an essential resource for learning about various genetic conditions, including supravalvular aortic stenosis (SVAS).

Supravalvular aortic stenosis is a rare genetic disorder characterized by narrowing of the central artery, called the aorta. It is associated with mutations in the elastin gene. Elastin is a protein that provides flexibility and support to blood vessels. When the elastin gene is mutated, it leads to the development of SVAS.

The OMIM database provides information on the genetic causes, clinical symptoms, and inheritance patterns of SVAS. It also references scientific articles and studies related to this condition. Additional resources and support for patients and families affected by SVAS can be found through genetic advocacy organizations and support centers.

For more information about SVAS and related genetic testing, visit the OMIM catalog on their website. The OMIM database is a valuable tool for researchers, clinicians, and individuals who want to learn more about rare genetic conditions like SVAS.

References:

1. OMIM database: www.omim.org
2. Patient support center: www.patient-support.org
3. ClinicalTrials.gov: www.clinicaltrials.gov
4. Genetic advocacy organizations: www.genetic-advocacy.org
5. PubMed articles on SVAS: pubmed.ncbi.nlm.nih.gov/?term=supravalvular+aortic+stenosis

Scientific Articles on PubMed

Supravalvular aortic stenosis (SVAS) is a rare genetic condition that affects the flexibility of the aortic artery. It is also called elastin arteriopathy as it is caused by mutations in the elastin gene. SVAS is inherited in an autosomal dominant pattern, meaning that each child of an affected parent has a 50% chance of inheriting the condition.

Symptoms of SVAS can vary from patient to patient, ranging from mild to severe. Some individuals may be asymptomatic, while others may experience shortness of breath, chest pain, or dizziness. The severity of the condition can worsen over time, leading to complications such as heart failure or death.

Diagnosis of SVAS usually involves a combination of clinical evaluation, imaging tests, and genetic testing. The presence of supravalvular narrowing of the aorta can be detected using techniques like echocardiography or cardiac catheterization. Genetic testing can identify mutations in the elastin gene, providing additional support for the diagnosis.

There are several resources available for individuals and families affected by SVAS. The National Human Genome Research Institute provides information about the condition on their website. Additionally, clinicaltrialsgov and OMIM (Online Mendelian Inheritance in Man) offer gene-specific information and clinical trial listings related to SVAS.

Scientific articles on PubMed can provide more information about the rare disease and ongoing research. PubMed is a database of medical literature maintained by the National Library of Medicine. It contains references to articles from a wide range of scientific journals.

Researchers have conducted studies to explore the underlying causes of SVAS and identify potential treatments. These studies have investigated the function of the elastin gene, genetic inheritance patterns, and associated diseases. Scientific articles on PubMed can provide more detailed information about this research.

In conclusion, SVAS is a rare genetic condition characterized by supravalvular narrowing of the aortic artery. It is associated with mutations in the elastin gene. Symptoms can vary from patient to patient, and diagnosis typically involves a combination of clinical evaluation and genetic testing. PubMed is a valuable resource for finding scientific articles on SVAS, providing more information about the condition, its causes, and ongoing research.

References

• Studies and Research:

  • PubMed – A central repository for scientific articles and research. Available at https://pubmed.ncbi.nlm.nih.gov/

  • OMIM – Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders. Available at https://omim.org/

  • Gene Reviews – Provides in-depth information on genes and associated diseases. Available at https://www.ncbi.nlm.nih.gov/books/NBK1116/

  • ClinicalTrials.gov – A database of clinical trials and studies. Available at https://www.clinicaltrials.gov/

• Support and Advocacy Organizations:

  • Supravalvular Aortic Stenosis Support Center – Provides information and support for patients and families. Available at https://www.svassupport.org/

• Additional Information:

  • National Heart, Lung, and Blood Institute (NHLBI) – Learn more about supravalvular aortic stenosis. Available at https://www.nhlbi.nih.gov/health-topics/supravalvular-aortic-stenosis

  • Genetics Home Reference – Information about the causes, frequency, and inheritance of supravalvular aortic stenosis. Available at https://medlineplus.gov/genetics/condition/supravalvular-aortic-stenosis/