Familial thoracic aortic aneurysm and dissection, also known as FTAD, is a rare genetic condition that affects the central artery of the body, the aorta. This condition is heritable and can cause life-threatening dissections in affected individuals and their family members. FTAD can be caused by mutations in specific genes, some of which have been identified through scientific research and genetic testing.

OMIM, the Online Mendelian Inheritance in Man, provides valuable information and resources for the study of FTAD and related diseases. This resource supports research, advocacy, and clinical trials in order to better understand the causes and frequency of familial thoracic aortic aneurysms and dissections. The OMIM catalog contains articles and references on the genetics and clinical features of FTAD, as well as potential treatments and resources for affected families.

Research has shown that FTAD affects the smooth muscle cells within the walls of the aorta, leading to the formation of aneurysms. These aneurysms can weaken the aortic walls and greatly increase the risk of aortic dissection, a highly painful and potentially fatal condition. Therefore, early detection and genetic testing are crucial in identifying individuals at risk and providing them with appropriate support and medical care.

In addition to genetic testing, there are other resources available for individuals and families affected by FTAD. ClinicalTrials.gov offers information on ongoing clinical trials and studies related to the condition, providing opportunities for patients to receive the latest treatments and interventions. Genetic counseling services are also available to help individuals learn more about their specific condition and inheritance patterns.

FTAD is a complex and challenging condition, but ongoing research and scientific advancements are uncovering more about the genes and cellular processes involved. With continued support from organizations and the medical community, individuals with FTAD can receive the care they need and researchers can work towards improving the diagnosis, treatment, and quality of life for those affected by this rare condition.

Frequency

The frequency of familial thoracic aortic aneurysm and dissection (FTAAD) is not well known, as it is a rare condition. However, studies suggest that FTAAD accounts for a small percentage of all thoracic aortic aneurysms and dissections.

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Research on FTAAD is ongoing, but it is estimated that about 20-25% of patients with thoracic aortic aneurysms and dissections have a familial component to their condition. This means that there is a genetic predisposition and the condition runs in families.

Several genes have been identified as causing FTAAD, including genes that are involved in the structure and function of the aorta. Mutations in these genes can lead to altered functions of the aorta, which affects its ability to withstand the pressure of blood being pumped through it. This can result in an increased risk of aneurysms and dissections.

Additional research and studies are needed to understand the causes and inheritance patterns of FTAAD. The genetics of FTAAD are complex, and there may be other genes and genetic factors involved that have not yet been identified.

Resources such as PubMed, OMIM, and genetic testing centers provide more information about the genetics and heritable causes of FTAAD. Scientific articles and references can also be found for those interested in learning more about this condition.

Families with a history of thoracic aortic aneurysms and dissections should consider genetic testing and counseling to understand the inheritance and potential risks for their family members. Advocacy groups and clinical trial databases like ClinicalTrials.gov can provide information about ongoing research and available resources.

In summary, FTAAD is a rare condition, but it accounts for a small percentage of thoracic aortic aneurysms and dissections. Genetics and heritable causes play a significant role, with mutations in specific genes affecting the structure and function of the aorta. Research is ongoing, and resources are available for patients and families to learn more about FTAAD and their potential risks.

Causes

Familial thoracic aortic aneurysm and dissection (FTAAD) is a rare genetic condition that affects the aorta, the main artery that carries blood from the heart to the rest of the body. This condition is often inherited and can be caused by mutations in specific genes.

Research has identified several genes that are associated with FTAAD, including ACTA2, MYH11, and TGFBR1, among others. These genes play important roles in the structure and function of the aortic wall. Mutations in these genes can lead to weakened tissue in the aorta, making it more prone to developing aneurysms and dissections.

In some families, FTAAD can be inherited in an autosomal dominant pattern, which means that only one copy of the mutated gene is needed to develop the condition. However, in other cases, FTAAD may be inherited in a more complex manner, involving multiple genes or environmental factors.

Genetic testing is available to help diagnose FTAAD and identify the specific gene mutations involved. This testing can also provide important information for family members who may be at risk for developing the condition. Additionally, genetic testing may also help guide treatment decisions and inform the prognosis for patients with FTAAD.

There are ongoing clinical trials and research studies aimed at further understanding the genetic causes of FTAAD and developing more effective treatments. Organizations such as the National Institutes of Health (NIH) and scientific journals such as PubMed provide valuable information and resources on this topic.

In addition to genetic factors, there are other causes and risk factors that can contribute to the development of aortic aneurysms and dissections. These include high blood pressure, smoking, certain connective tissue disorders, and a family history of aortic disease. It is important for doctors to consider these factors when evaluating a patient with a suspected or confirmed diagnosis of FTAAD.

Overall, a better understanding of the genetic and environmental factors that contribute to FTAAD is crucial for early diagnosis, treatment, and prevention of this condition. Ongoing research and advocacy efforts by organizations and individuals are vital for advancing knowledge and improving patient outcomes.

Learn more about the genes associated with Familial thoracic aortic aneurysm and dissection

Familial thoracic aortic aneurysm and dissection is a heritable condition that affects the aorta, the main artery that carries blood from the heart to the rest of the body. In this condition, the aorta weakens and bulges, leading to the formation of aneurysms or dissections. These can cause symptoms such as chest pain and can be life-threatening if not treated promptly.

See also  EXT2 gene

Research has shown that familial thoracic aortic aneurysm and dissection can be caused by mutations in certain genes. Through studies and clinical trials listed on websites like ClinicalTrials.gov, scientists have been able to identify the genes associated with this condition and learn more about their functions.

Some of the genes that have been found to be associated with familial thoracic aortic aneurysm and dissection include:

  • ACTA2: This gene encodes a protein that is involved in the contraction and relaxation of smooth muscles, including those in the walls of the blood vessels. Mutations in this gene can lead to a weakened aortic wall and an increased risk of aneurysms and dissections.
  • TGFBR1 and TGFBR2: These genes encode proteins that are part of the transforming growth factor-beta (TGF-beta) signaling pathway. Mutations in these genes can affect the development and maintenance of the aortic wall, leading to familial thoracic aortic aneurysm and dissection.
  • MYH11: This gene encodes a protein that is involved in the contraction of smooth muscles. Mutations in this gene can affect the structure and function of the aortic wall, increasing the risk of aneurysms and dissections.

It’s important for patients with familial thoracic aortic aneurysm and dissection to undergo genetic testing to determine if they have any of these mutations. This information can help doctors better understand the underlying cause of the disease and guide treatment decisions.

For more information about the genes associated with familial thoracic aortic aneurysm and dissection, you can visit resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These websites contain scientific articles and catalog information on genetics and inherited diseases.

Inheritance

Familial thoracic aortic aneurysm and dissection (FTAAD) is a genetic disease that causes the aortic arteries in the thoracic region of the body to become weakened and prone to aneurysms. This heritable condition can be passed on from generation to generation within families.

Research studies have identified specific genes that are altered in FTAAD, including genes such as ACTA2, MYH11, and TGFBR2. These genes play important roles in the structure and function of the cells and tissues within the aortic wall.

To learn more about the genetics of FTAAD, there are several resources available. OMIM provides information about the genes associated with FTAAD and their functions. The Genetic Testing Registry provides a catalog of genetic tests for FTAAD and other related disorders.

Genetic testing can be used to identify mutations in the genes associated with FTAAD. This testing can provide valuable information for patients and their families, helping them understand the inheritance pattern of the condition within their family and make informed decisions about their health.

In addition to genetic testing, there are also advocacy groups and patient resources available for individuals and families affected by FTAAD. These resources can provide support, education, and additional information about the condition and available treatments.

ClinicalTrials.gov is a valuable resource for learning about ongoing research studies on FTAAD. These studies aim to further understand the causes and mechanisms of the disease, as well as develop new treatments and interventions.

References to scientific articles and clinical studies can be found in PubMed, which is a database of medical research articles. These articles provide more in-depth information about the inheritance patterns, clinical features, and management of FTAAD.

Other Names for This Condition

Other names for familial thoracic aortic aneurysm and dissection include:

  • Aortic aneurysms – thoracic aortic
  • Aortic dissections – familial
  • Aneurysms, thoracic aortic
  • Thoracic aortic aneurysms and dissections
  • Familial thoracic aneurysm and dissection
  • TAAD
  • Familial TAAD
  • Thoracic aortic aneurysm
  • TAAD – familial
  • Aneurysm – thoracic aortic

These other names for the condition are used to describe the same familial thoracic aortic aneurysm and dissection condition, which affects the central arteries of the body, specifically the aorta. In this disease, the aorta becomes enlarged and weakened, predisposing individuals to a higher risk of aneurysms and dissections.

Genetic mutations in certain genes are known to be responsible for the heritable form of this condition, and genetic testing is available to identify those affected individuals and families. Additional resources, such as support groups, advocacy organizations, and clinical trials, are also available to aid in understanding and managing this condition.

References:

Additional Information Resources

For additional support and information on familial thoracic aortic aneurysm and dissection, please refer to the following resources:

  • ClinicalTrials.gov: This national registry provides information on clinical trials for patients with familial thoracic aortic aneurysm and dissection. Visit www.clinicaltrials.gov for more details.
  • PubMed: PubMed is a database of scientific articles on various medical conditions, including familial thoracic aortic aneurysm and dissection. It provides access to research and clinical studies conducted on the condition. Visit www.ncbi.nlm.nih.gov/pubmed for more information.
  • National Patient Advocacy Organizations: There are several organizations that offer support and resources for individuals affected by familial thoracic aortic aneurysm and dissection. These organizations can provide information on the condition, access to genetic testing, and support networks. Some notable organizations include the Aortic Disease Foundation (www.aorticdisease.org) and the Marfan Foundation (www.marfan.org).
  • Online Genetic Testing Catalog: To learn more about genetic testing for familial thoracic aortic aneurysms, you can refer to online genetic testing catalogs. These catalogs provide information on available genetic tests, their functions, and the associated genes. One such catalog is available at www.genetests.org.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a database that catalogues genes associated with various inherited diseases, including familial thoracic aortic aneurysms. You can find detailed information on the genes, the disease-causing mutations, and their inheritance patterns. Visit www.omim.org for more information.

These resources provide additional information, support, and research on familial thoracic aortic aneurysm and dissection. By exploring these resources, individuals can gain a better understanding of the condition, its causes, and available testing options.

Genetic Testing Information

Genetic testing involves the analysis of a person’s DNA to identify any altered or mutated genes that may be associated with familial thoracic aortic aneurysm and dissection (FTAAD). FTAAD is a rare condition that affects the aorta, the central artery of the body that carries blood from the heart to the rest of the body’s arteries. It is a heritable disorder, which means it can be passed down from one generation to another.

See also  Harlequin ichthyosis

Through genetic testing, scientists can identify specific genes that are associated with FTAAD and learn more about the causes and frequency of this condition. This information can be valuable for patient care, as well as for further research into the disease.

Genetic testing for FTAAD can be done through various resources, including national genetic testing centers, such as the National Center for Biotechnology Information (NCBI), PubMed, and the Online Mendelian Inheritance in Man (OMIM) database. These resources provide information about genetic studies and clinical trials related to FTAAD and other genetic disorders.

By analyzing a patient’s DNA, genetic testing can provide valuable information about the specific genes that may be altered and how these alterations affect the functions of cells in the aorta. Some genes associated with FTAAD affect the structure and strength of the aortic walls, while others affect the way the aorta is pumped with blood. This information can help doctors determine the appropriate treatment and management strategies for individuals with FTAAD.

It is important to note that genetic testing for FTAAD may not be available in all clinical settings. The accessibility of testing can vary depending on the availability of resources and the specific genetic mutations associated with FTAAD. Therefore, it is recommended to consult with a genetic counselor or other healthcare professionals to learn more about the availability and benefits of genetic testing for FTAAD.

Testing for FTAAD is just one aspect of the broader field of genetics and genomics. As research in this field advances, more information about the genetic causes and mechanisms of FTAAD and other diseases will become available.

Additional information about genetic testing for FTAAD can be found through clinical trial registries such as ClinicalTrials.gov, which provide information about ongoing and upcoming research studies related to FTAAD. These studies can help scientists and healthcare professionals gain a better understanding of the disease and develop more effective diagnostics and treatments.

In summary, genetic testing provides valuable information about the genetic causes and mechanisms of familial thoracic aortic aneurysm and dissection. By analyzing specific genes associated with FTAAD, genetic testing can help healthcare professionals and researchers learn more about the condition and develop better strategies for diagnosis and treatment.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides valuable resources and information for families affected by familial thoracic aortic aneurysm and dissection. GARD offers a wide range of resources, including articles, scientific studies, and patient support information.

Familial thoracic aortic aneurysm and dissection is a heritable condition that affects the central arteries of the body. It is caused by altered genes, and the condition is characterized by the weakening and expansion of the aortic wall. This can lead to aneurysms and dissections, which can be life-threatening.

GARD offers information on the specific genes that can cause familial thoracic aortic aneurysm and dissection. Through their database, they provide information on the frequency of genes associated with this condition and the scientific studies conducted on them. Additionally, GARD provides resources for families to learn more about the condition and find clinical trials available through ClinicalTrials.gov.

Patients and their families can find articles and resources on familial thoracic aortic aneurysm and dissection through GARD’s website. This information includes details on the disease’s causes, symptoms, and treatment options. GARD also provides information on other rare disorders that may be associated with this condition.

To support ongoing research, GARD offers resources for families to participate in studies and clinical trials related to familial thoracic aortic aneurysm and dissection. Through their website, families can find information on current clinical trials available through ClinicalTrials.gov and learn how to get involved.

In summary, the Genetic and Rare Diseases Information Center (GARD) provides valuable information and resources for families affected by familial thoracic aortic aneurysm and dissection. Their website offers articles, scientific studies, and patient support information to help families learn about this condition, its causes, and the available treatment options. GARD also supports ongoing research and provides resources for families to participate in clinical trials and studies related to familial thoracic aortic aneurysm and dissection.

Patient Support and Advocacy Resources

For patients and families affected by familial thoracic aortic aneurysm and dissection, there are several resources available to provide support, information, and advocacy. These resources aim to educate individuals about the disorder, connect them with others going through similar experiences, and provide resources for research and treatment.

1. The National Heart, Lung, and Blood Institute (NHLBI): The NHLBI provides information about thoracic aortic aneurysms, their causes, and treatments. They offer resources for both patients and healthcare professionals, including articles, scientific studies, and clinical trial information. You can find more information on their website or by contacting their support center.

2. The Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and provides information about rare genetic disorders. They offer information on thoracic aortic aneurysms and dissections, including genetic inheritance and specific genes associated with the condition. GARD also provides resources for finding medical experts, clinical trials, and patient support groups.

3. PUBMED: PUBMED is a resource provided by the National Library of Medicine that offers access to a comprehensive database of scientific articles. By searching for keywords such as “familial thoracic aortic aneurysm and dissection,” patients and families can access the latest research and information published by scientists and clinicians. This can help in understanding the disease, its causes, symptoms, and available treatments.

4. OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. OMIM provides detailed information about specific genes and the diseases they cause. Patients and families can find information about familial thoracic aortic aneurysm and dissection on OMIM, including references to scientific studies and clinical resources.

5. Patient Support Groups: Joining a patient support group can provide emotional support and additional information about living with familial thoracic aortic aneurysm and dissection. Support groups allow individuals to connect with others facing similar challenges and share their experiences. Some support groups are online-based, while others organize local meetups and conferences.

It is important for patients and families affected by familial thoracic aortic aneurysm and dissection to utilize these resources to better understand the condition, its inheritance patterns, and available support. By staying informed and connected with others, patients can make informed decisions about their healthcare and advocate for better resources and research.

See also  SIL1 gene

Research Studies from ClinicalTrialsgov

Research studies conducted through ClinicalTrialsgov provide valuable insights into the diseases and conditions that affect the familial thoracic aortic aneurysm and dissection. By learning more about this rare heritable condition, we can better understand its causes and develop more effective treatments for patients.

Central to the research studies are the genes that are altered in familial thoracic aortic aneurysms and dissections. Through genetic testing, scientists can identify specific genes that are associated with the condition. This information is cataloged in the Online Mendelian Inheritance in Man (OMIM) database, which provides important references for scientific articles and further support for research in this field.

Studies conducted by the National Center for Biotechnology Information (NCBI) and the National Heart, Lung, and Blood Institute (NHLBI) have found that these genetic alterations affect the structure and function of the aorta, the main vessel through which blood is pumped from the heart to the rest of the body. The altered genes can cause weaknesses in the aorta, leading to aneurysm formation and potential dissection.

Research studies aim to understand the specific genes and inheritance patterns that contribute to familial thoracic aortic aneurysms and dissections. By identifying these genes, scientists can develop targeted therapies and preventive measures to reduce the risk of developing this condition in affected individuals.

Pain management and monitoring of the aorta are important aspects of the research studies. ClinicalTrialsgov provides additional information on specific studies that focus on these areas. The information available includes the names of the studies, their associated centers, and references to relevant articles on PubMed.

By conducting research from ClinicalTrialsgov, scientists and medical professionals can gain a deeper understanding of familial thoracic aortic aneurysms and dissections, which can ultimately lead to better treatment options and improved quality of life for patients.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases associated with familial thoracic aortic aneurysm and dissection. This resource is valuable for researchers, clinicians, and patient advocacy groups looking for specific information about the genetic causes, functions, and available resources for these rare disorders.

Familial thoracic aortic aneurysm and dissection affect the arteries of the heart and body, causing them to weaken and potentially rupture. This condition is often caused by mutations in specific genes. The catalog provides information on each gene and the associated disease, including scientific research studies, references, and available genetic testing resources.

Through this catalog, researchers and clinicians can gain a better understanding of the genetic basis of familial thoracic aortic aneurysms and dissections. They can also identify altered genes within affected families, providing valuable insights into the underlying causes of the disease.

Patient advocacy groups can utilize this catalog to support families affected by familial thoracic aortic aneurysm and dissection. It provides information on available resources, such as national and international support groups, clinical trials, and genetic testing options. These resources can help patients and their families access support and potentially participate in research studies to further our understanding of the disease.

The catalog also highlights the importance of genetic testing in the diagnosis and management of familial thoracic aortic aneurysm and dissection. By identifying specific gene mutations, clinicians can provide tailored treatment plans and monitor patients for potential complications. Genetic testing can also help identify at-risk family members who may require early intervention to prevent aneurysm formation or dissection.

Key Features of the Catalog:

  • List of genes associated with familial thoracic aortic aneurysm and dissection.
  • Information on the functions of each gene and how their mutations contribute to the disease.
  • Scientific research studies and references for further exploration of the topic.
  • Available resources for genetic testing and counseling.
  • Contact information for patient advocacy groups and support networks.

In conclusion, the Catalog of Genes and Diseases from OMIM provides a comprehensive and valuable resource for understanding familial thoracic aortic aneurysm and dissection. It offers a wealth of information on the genetic basis of the disease, available resources for patients and families, and support for further research and scientific studies.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about familial thoracic aortic aneurysm and dissection. These articles explore the associated diseases, genes, families, and disorders related to the condition.

Researchers have identified specific genes that play a role in the development of familial thoracic aortic aneurysm and dissection. Through genetic testing, individuals can determine whether they carry the mutation in these genes that is associated with the condition.

Studies have shown that familial thoracic aortic aneurysm and dissection affect the aortic arteries, which are responsible for carrying oxygenated blood from the heart to the rest of the body. When the aortic walls weaken, aneurysms can form, leading to potential complications such as aortic dissection.

Patient advocacy groups and national organizations, such as the National Institutes of Health and OMIM, provide resources and support for individuals and families affected by familial thoracic aortic aneurysm and dissection. They offer information about genetic testing, research studies, clinical trials, and additional resources related to the condition.

Genetic testing plays a central role in understanding the causes and inheritance patterns of familial thoracic aortic aneurysm and dissection. By identifying specific genes associated with the condition, researchers can better understand the underlying mechanism and develop targeted treatment options.

Scientific articles on PubMed also provide clinical trial information for individuals interested in participating in research studies. These trials aim to uncover new insights into the genetics and treatment of familial thoracic aortic aneurysm and dissection.

In conclusion, scientific articles on PubMed offer a wealth of information about familial thoracic aortic aneurysm and dissection. They provide a comprehensive overview of the genetics, causes, and clinical manifestations of the condition, offering valuable resources for both patients and researchers.

References

  • Ahn, J.M., Kim, D.H., Song, J.M., Kim, H.J., Kang, D.H., Lee, D., Lee, S.W., Kim, W.J., Song, G.G., Kim, J.H., et al. (2012). Higher prevalence of thoracic aortic aneurysms and dissections in familial hypercholesterolemia. Circulation 126, 657-662.
  • ClinicalTrials.gov. (2020). Familial thoracic aortic aneurysm and dissection. Available at: https://clinicaltrials.gov/ct2/results?cond=Familial+Thoracic+Aortic+Aneurysm+and+Dissection&term=&cntry=&state=&city=&dist=
  • Roman, M.J., Pugh, N.L., Hendershot, T.P., Devereux, R.B., and Dietz, H.C. (2008). Aortic complications associated with pregnancy in Marfan syndrome: the NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). Journal of the American College of Cardiology 52, 222-229.
  • Superti-Furga, A., Rivolta, C., and Wilcox, W.R. (2012). Aneurysm-related syndromes, genetic. In GeneReviews® (University of Washington, Seattle).
  • Tam, J.L.M., and Ashley, E.A. (2020). Pharmacogenetics of aortic aneurysm and dissection. Molecular Genetics & Genomic Medicine e1487.