Arterial tortuosity syndrome is a rare genetic disorder that is characterized by abnormalities in the arteries and other tissues of the body. This condition is associated with the abnormal growth and development of the arterial system, causing the arteries to be twisted and elongated. The exact frequency of arterial tortuosity syndrome is unknown, but it is considered to be a rare condition.

Arterial tortuosity syndrome is caused by mutations in the SLC2A10 gene, which is responsible for coding a glucose transporter protein. These mutations interfere with the normal function of the protein, leading to the development of arterial abnormalities. The inheritance pattern of arterial tortuosity syndrome is autosomal recessive, which means that both copies of the SLC2A10 gene must be mutated in order for the condition to occur.

ClinicalTrials.gov provides additional information on the current research and studies related to arterial tortuosity syndrome. The National Center for Advancing Translational Sciences (NCATS) offers an article on the genetic or rare diseases information center page that provides information about this condition. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders that may provide further insights into the causes and inheritance of arterial tortuosity syndrome.

PubMed articles and references from other scientific journals can also be valuable resources for learning more about arterial tortuosity syndrome. The support and advocacy organization for this condition is called the Arterial Tortuosity Syndrome Support Group, and they provide additional information and resources for patients and their families. The signs and symptoms of arterial tortuosity syndrome can vary widely between individuals, and genetic testing is often necessary for a definitive diagnosis.

Arterial tortuosity syndrome affects various systems of the body, including the heart, and can result in serious health complications. There is currently no cure for this condition, and treatment focuses on managing the symptoms and preventing complications. Ongoing research and clinical trials are aimed at improving our understanding and treatment of arterial tortuosity syndrome.

Frequency

The frequency of Arterial Tortuosity Syndrome is unknown. Since its initial description in 2000, only a few cases have been reported in the medical literature. The rarity of this condition makes it difficult to determine its exact prevalence in the general population.

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According to a study published in the American Journal of Medical Genetics, there have been approximately 60 reported cases of Arterial Tortuosity Syndrome worldwide as of 2011. This suggests that the condition is extremely rare.

However, it is important to note that the actual frequency of the syndrome may be higher than reported, as many cases may go undiagnosed or misdiagnosed. Additionally, advancements in genetic testing and increased awareness among clinicians may lead to more accurate diagnosis and reporting of cases in the future.

Arterial Tortuosity Syndrome is a genetic condition, and mutations in the SLC2A10 gene have been found to be associated with the syndrome. The SLC2A10 gene provides instructions for making a protein that is involved in the transport of glucose across cell membranes. Mutations in this gene can lead to abnormal growth and development of the arteries, resulting in their tortuous or twisted appearance.

While mutations in the SLC2A10 gene are the primary cause of Arterial Tortuosity Syndrome, there may be other genes yet to be discovered that are also involved in the development of the condition.

Due to the rarity of Arterial Tortuosity Syndrome, there is limited information available about the signs, symptoms, and natural history of the condition. However, according to the Online Mendelian Inheritance in Man (OMIM) catalog, some of the features associated with the syndrome include tortuosity of the arteries, joint hypermobility, and various skeletal abnormalities.

Research studies and clinical trials registered on ClinicalTrials.gov and PubMed may provide additional information about Arterial Tortuosity Syndrome. However, it is important to consult these resources for more detailed and up-to-date information.

Patients and their families can also find support and advocacy resources through rare disease organizations and genetic counseling centers. These resources can provide information about the latest research, available testing options, and available treatment options.

Overall, Arterial Tortuosity Syndrome is a rare genetic condition characterized by abnormalities in the growth and development of the arteries. More research and clinical studies are needed to understand the exact frequency, inheritance patterns, and underlying causes of this condition.

Causes

The exact cause of arterial tortuosity syndrome is not yet fully understood. However, researchers have identified several genes that are associated with this rare condition. Mutations in the SLC2A10 gene, encoding a glucose transporter, have been found to be responsible for the majority of cases.

In addition to SLC2A10, other genes such as MMP2 and TGFB2 have also been implicated in arterial tortuosity syndrome. Studies have shown that these genes play a role in the growth and development of blood vessels, and their mutations can lead to abnormal arterial structure.

Arterial tortuosity syndrome follows an autosomal recessive inheritance pattern, which means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. It is considered a rare disorder, with an estimated frequency of less than 1 in 1,000,000 individuals.

Outside of genetic factors, there are currently no known environmental or lifestyle causes of arterial tortuosity syndrome.

For more information on the genes associated with arterial tortuosity syndrome, you can visit the OMIM database (Online Mendelian Inheritance in Man) or the Genetic Testing Registry, which provides information on genetic tests available for this condition.

Learn more about the gene associated with Arterial tortuosity syndrome

Arterial tortuosity syndrome (ATS) is a rare genetic condition characterized by the abnormal twisting and elongation of arteries throughout the body. This condition is caused by mutations in the SLC2A10 gene, which provides instructions for making a transporter protein that helps regulate the growth and development of connective tissue.

Arteries, the blood vessels that carry oxygen-rich blood from the heart to the rest of the body, are affected by the mutations in the SLC2A10 gene. These abnormalities in the gene lead to the development of tortuous (twisted and winding) arteries.

To learn more about the gene associated with ATS, you can refer to the following resources:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The entry for ATS provides detailed information about the SLC2A10 gene and its associations with the condition.
• PubMed: PubMed is a database of scientific articles. You can find research studies and articles on the SLC2A10 gene and its role in arterial tortuosity syndrome.
• Additional research articles: There are several scientific articles published about the SLC2A10 gene and its relationship to ATS. These articles can provide more in-depth information about the genetic mechanisms and clinical findings associated with the condition.

In addition, clinicaltrialsgov may also have information on ongoing research studies related to ATS and the SLC2A10 gene.

For patient support and advocacy, you can reach out to organizations like the Arterial Tortuosity Syndrome Center, which can provide resources and information for individuals with this rare condition.

Learning more about the SLC2A10 gene and its association with ATS is crucial for understanding the genetic basis of the condition and developing better diagnostic testing and treatment options for affected individuals.

Inheritance

The inheritance of arterial tortuosity syndrome (ATS) is autosomal recessive, which means that an individual must inherit two copies of the mutated gene, one from each parent, to have the condition. ATS is a rare genetic disorder characterized by abnormal twisting and stretching of the arteries throughout the body.

There have been several genes associated with ATS. The most common gene linked to the syndrome is the SLC2A10 gene, which provides instructions for making a protein called GLUT10. This protein is responsible for transporting glucose and other sugars across cell membranes. Mutations in the SLC2A10 gene lead to a defective GLUT10 protein, resulting in the characteristic arterial abnormalities seen in ATS.

Additional genes have also been identified as causing ATS, including the SMAD3, COL3A1, and LOX genes. These genes play important roles in the development and maintenance of connective tissues, which contribute to the structure and integrity of the arterial walls.

Information about these genes and their inheritance patterns can be found in the OMIM (Online Mendelian Inheritance in Man) database, a comprehensive catalog of human genes and genetic disorders. The OMIM catalog can provide valuable resources and support for patients and families affected by ATS.

Genetic testing is available to confirm a diagnosis of ATS. This testing can detect mutations in the known ATS-associated genes and can help identify the specific genetic cause of the condition. It can also provide important information for genetic counseling, family planning, and future research studies.

Research studies on the causes and inheritance of ATS are ongoing. These studies aim to better understand the underlying genetic and molecular mechanisms of the syndrome and to explore new treatment options. Scientific articles and references from PubMed and other scientific databases provide valuable information about the latest advancements in ATS research.

While the exact frequency of ATS is unknown, it is considered a rare condition. The signs and symptoms of ATS can vary widely between individuals, even within the same family. Common clinical features of ATS include arterial abnormalities, such as tortuosity and elongation, and associated body system abnormalities, such as growth deficiencies and cardiovascular abnormalities, including heart defects.

Patients with ATS may benefit from participating in clinical trials. ClinicalTrials.gov is a database that provides information about ongoing or upcoming clinical trials investigating new treatments or interventions for various diseases and conditions, including arterial tortuosity syndrome. Participating in clinical trials can offer patients access to experimental therapies and contribute to the scientific understanding of the syndrome.

In summary, arterial tortuosity syndrome is a rare genetic condition with autosomal recessive inheritance. It is caused by mutations in genes involved in connective tissue development and glucose transport. Genetic testing and resources such as OMIM, PubMed, and ClinicalTrials.gov provide valuable information for patients, families, and researchers working towards a better understanding and management of this syndrome.

Other Names for This Condition

• Arterial tortuosity syndrome
• Beals syndrome
• Ehlers-Danlos syndrome, vascular type 4
• Loeys-Dietz syndrome, type 4
• Shprintzen-Goldberg syndrome

Arterial tortuosity syndrome, also known as Beals syndrome, is a rare genetic condition characterized by abnormalities in the arteries, leading to their tortuous and elongated appearance. The condition is associated with abnormalities in the connective tissue outside of the arteries, affecting various body tissues.

The gene associated with arterial tortuosity syndrome is called SLC2A10. Mutations in this gene can cause the condition, resulting in the signs and symptoms observed in affected individuals.

Arterial tortuosity syndrome is a rare condition, and its prevalence is not well documented. It has been reported in several scientific articles and case studies, and more research is needed to understand its frequency and prevalence in the general population.

Diagnosis of arterial tortuosity syndrome can be confirmed through clinical evaluation, genetic testing, and imaging studies. Genetic testing can identify mutations in the SLC2A10 gene, providing additional information about the inheritance pattern and potential risks for family members of affected individuals.

Additional resources for information on arterial tortuosity syndrome, its causes, and associated genes can be found in the OMIM database, as well as through advocacy and support organizations. ClinicalTrials.gov and PubMed are also valuable resources for learning about ongoing research studies and clinical trials related to this condition.

1. Coucke PJ, Willaert A, Wessels MW, et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006; 38(4):452-457.
2. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006; 355(8):788-798.
3. OMIM Entry #208050. Arterial Tortuosity Syndrome; ATS. Available from: https://omim.org/entry/208050 [Accessed on September 15, 2022]
4. Zoppi N, Ritelli M, Colombi M, Tortora G, et al. Clinical and molecular characterization of nine patients with arterial tortuosity syndrome. Gene. 2012; 495(2):223-228.

This article provides an overview of arterial tortuosity syndrome, its associated gene, clinical features, diagnostic methods, and available resources for further research and support.

Additional Information Resources

• OMIM – Online Mendelian Inheritance in Man is a comprehensive database that provides information about the genetic causes and inheritance patterns of diseases. The entry for arterial tortuosity syndrome includes a summary of the condition, references to scientific articles, and links to related genes and disorders.

• GeneReviews – This resource provides detailed information about genes, their functions, and their associations with diseases. The GeneReviews entry for arterial tortuosity syndrome includes clinical information, inheritance patterns, and molecular genetic testing options.

• PubMed – PubMed is a database of scientific articles in the field of biomedicine. Searching for “arterial tortuosity syndrome” on PubMed will retrieve a list of research articles and case studies about this rare condition.

• Orphanet – Orphanet is a European reference portal for information about rare diseases and orphan drugs. The entry for arterial tortuosity syndrome includes clinical features, genetic causes, and resources for patient support and advocacy.

• Genetic Testing Registry – The Genetic Testing Registry (GTR) provides information about genetic tests for specific conditions. Searching for “arterial tortuosity syndrome” in the GTR will provide a list of laboratories that offer testing for this condition.

• ClinicalTrials.gov – ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies. Searching for “arterial tortuosity syndrome” on ClinicalTrials.gov may provide information about ongoing or completed clinical trials related to this condition.

• Arterial Tortuosity Syndrome Research Center – The Arterial Tortuosity Syndrome Research Center is a dedicated organization that conducts research on this rare condition. Their website provides information about the latest research findings, patient support resources, and opportunities to participate in research studies.

Additional sources of information and support for arterial tortuosity syndrome include scientific articles, research studies, and patient advocacy organizations. It is important for individuals with this condition and their families to seek information and resources from trusted sources to better understand the causes, symptoms, and management of arterial tortuosity syndrome.

Genetic Testing Information

The genetic testing information for Arterial Tortuosity Syndrome can provide valuable insights into the causes, inheritance patterns, and associated genes of this rare condition. It is important for patients and their families to have access to scientific resources and genetic testing to learn more about their condition and to seek appropriate medical support.

Genetic testing can identify the specific genes that are associated with Arterial Tortuosity Syndrome. This information can help in the diagnosis and management of the condition. Some of the genes that have been linked to this syndrome include SLC2A10, COL3A1, and the ATP-binding cassette sub-family C member 6 (ABCC6) gene.

Additional information on these genes can be found in scientific articles, research studies, and genetic databases. Resources such as PubMed, OMIM, and Genet can provide access to a wealth of information on these genes and the associated clinical presentations.

Genetic testing can also be beneficial for identifying other rare diseases and conditions that are associated with arterial tortuosity syndrome. These may include heart abnormalities, growth and body tissue abnormalities, and transporter system deficiencies.

For patients and their families, genetic testing can provide important information on the inheritance pattern of arterial tortuosity syndrome, as well as the frequency of the gene mutations associated with this condition. This can help individuals make informed decisions about their health and the potential risk of passing the condition on to future generations.

In addition to genetic testing, there are other valuable resources available for patients and their families. Organizations like the Genetic and Rare Diseases Information Center (GARD) and the PTEN Hamartoma Tumor Syndrome Foundation provide support, educational materials, and advocacy for individuals and families affected by rare genetic conditions, including arterial tortuosity syndrome.

Patients and their families can also find information on ongoing clinical trials and research studies related to arterial tortuosity syndrome on websites like ClinicalTrials.gov. Participating in these studies can not only provide patients with access to cutting-edge treatments and therapies, but also contribute to the advancement of scientific knowledge about this condition.

It is important for individuals with arterial tortuosity syndrome to seek genetic testing and utilize the available scientific resources to learn more about their condition, connect with support networks, and make informed decisions about their health and well-being.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides information about rare genetic diseases to patients, their families, healthcare professionals, and researchers.

GARD offers a wide range of resources, including articles on rare diseases, genetic testing information, clinical trials information, advocacy organizations, and more. It also provides links to scientific articles and research studies on different rare diseases, including Arterial Tortuosity Syndrome.

Arterial Tortuosity Syndrome is a rare genetic disorder that affects the connective tissue in the body, specifically the arteries. It is caused by mutations in the SLC2A10 gene. The most common sign of this syndrome is the abnormal twisting and bending of the arteries, which can lead to various health problems, including heart abnormalities.

The inheritance pattern of Arterial Tortuosity Syndrome is autosomal recessive, which means that both copies of the SLC2A10 gene must be mutated for the syndrome to develop. This syndrome is very rare, and its exact frequency in the general population is unknown.

There is currently no cure for Arterial Tortuosity Syndrome, and treatment focuses on managing the symptoms and complications associated with the condition. This may include surgery to correct heart abnormalities, growth hormone therapy for growth-related issues, and close monitoring of cardiovascular health.

For more information on Arterial Tortuosity Syndrome, you can visit the GARD website at rarediseases.info.nih.gov. GARD provides comprehensive information about the syndrome, including the signs and symptoms, causes, inheritance, and available resources for support and advocacy.

References:

• OMIM: Arterial Tortuosity Syndrome – https://www.omim.org/entry/208050
• PubMed: Arterial tortuosity syndrome – https://pubmed.ncbi.nlm.nih.gov/20301469
• Coucke, P.J., et al. (2006). Novel syndromic association of cutis laxa and tortuosity of the aorta in consanguineous children. J Med Genet, 43(4), 255-258.

Additional resources and information on Arterial Tortuosity Syndrome can also be found on the Genetic and Rare Diseases Information Center (GARD) website.

Patient Support and Advocacy Resources

Patient support and advocacy resources can provide valuable information and assistance to individuals and families affected by Arterial Tortuosity Syndrome (ATS). These resources offer support, education, and resources for navigating the challenges of living with this rare genetic condition.

Here are some patient support and advocacy resources that individuals and families can turn to for additional information and support:

• American Heart Association (AHA): A nationally recognized organization that provides resources and support for individuals and families affected by cardiovascular diseases. The AHA’s website offers information on ATS, its causes, symptoms, available treatments, and ongoing research. They also provide information on local support groups and events.
• Arterial Tortuosity Syndrome Research Center: This center is dedicated to researching ATS and its associated abnormalities. They conduct studies on the genetics of the condition and work towards developing novel treatments. Their website provides information on ongoing clinical trials and research studies related to ATS. They also offer genetic testing for ATS and other related conditions.
• Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS). They provide comprehensive and reliable information on rare genetic diseases, including ATS. Their website offers a detailed overview of the condition, its signs and symptoms, inheritance patterns, and treatment options. They also provide links to additional resources and scientific articles.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. Their database contains detailed information on ATS, including the associated genes and related clinical studies. They also provide links to scientific articles and references for further reading.

These resources offer a wealth of information for individuals and families seeking support and understanding about ATS. They can provide information on the latest research, ongoing clinical trials, genetic testing, and potential treatment options. They also offer support groups and events where individuals can connect with others who are going through similar experiences.

By utilizing these patient support and advocacy resources, individuals and families can access the information and resources they need to navigate the challenges of living with ATS and advocate for themselves and their loved ones.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a valuable resource for researchers and clinicians studying rare genetic diseases such as Arterial Tortuosity Syndrome. It provides a comprehensive catalog of ongoing and completed clinical trials related to various diseases, including those associated with genetic abnormalities.

Genetic testing is crucial for the identification and diagnosis of rare diseases. ClinicalTrials.gov offers information on research studies that focus on the identification of genes associated with Arterial Tortuosity Syndrome and other genetic conditions. These studies aim to learn more about the causes of the condition and investigate potential novel treatments.

The frequency of Arterial Tortuosity Syndrome is relatively low, making it a rare condition. ClinicalTrials.gov provides a platform for researchers to collaborate and share their findings, allowing for a comprehensive understanding of the syndrome and its associated signs and symptoms.

In addition to Arterial Tortuosity Syndrome-specific studies, researchers also explore related topics. Some studies investigate the genetic basis of similar arterial abnormalities and their association with other diseases. These studies provide valuable insights into the genetic and biological factors that contribute to the development of arterial tortuosity.

ClinicalTrials.gov is not the only resource for research studies related to Arterial Tortuosity Syndrome. PubMed, a scientific database, also hosts articles and research studies on this rare condition. This wide range of resources aids researchers and clinicians in staying up-to-date with the latest developments in the field.

Furthermore, advocacy and support groups for rare diseases like Arterial Tortuosity Syndrome play a crucial role in disseminating information about ongoing research studies. These organizations provide additional resources and information to patients and researchers, facilitating a collaborative approach to understanding and managing this condition.

Overall, research studies from ClinicalTrials.gov and other scientific databases are vital for advancing our knowledge of Arterial Tortuosity Syndrome and other rare genetic conditions. By examining genes, clinical manifestations, and potential treatment options, researchers strive to improve diagnosis, management, and quality of life for individuals affected by this condition.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. It provides valuable information on various diseases, their associated genes, and inheritance patterns. The catalog serves as a valuable resource for researchers, healthcare professionals, and advocacy groups.

OMIM contains detailed information about arterial tortuosity syndrome and other rare genetic disorders. The catalog includes references to scientific articles, clinical trials, and patient advocacy groups. It is a one-stop resource for learning more about the condition, the genes involved, and the associated abnormalities.

One of the genes associated with arterial tortuosity syndrome is SLC2A10, which encodes a glucose transporter. Mutations in this gene can lead to the development of the syndrome. Other rare genetic conditions related to arterial tortuosity syndrome are also included in the catalog, providing a comprehensive overview of these diseases.

OMIM provides information about the frequency of the condition and the genes involved. It also lists research studies and clinical trials related to arterial tortuosity syndrome. This information can be helpful for patients and healthcare professionals looking for additional resources and support.

Outside of OMIM, there are other resources available for learning about arterial tortuosity syndrome. ClinicalTrials.gov, for example, lists ongoing clinical trials and research studies on the condition. PubMed also contains articles and studies related to arterial tortuosity syndrome and its associated genes.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for learning about arterial tortuosity syndrome and other rare genetic conditions. It provides information about the genes involved, associated abnormalities, inheritance patterns, and more. Researchers, healthcare professionals, and patients can rely on this catalog for up-to-date and comprehensive information on these conditions.

Scientific Articles on PubMed

Arterial tortuosity syndrome is a rare genetic condition that affects the elastic fibers in the walls of arteries. It is caused by mutations in the SLC2A10 gene, which is involved in the transport of glucose across cell membranes. This gene is part of a complex system that regulates the growth and development of arterial tissues.

There are few scientific articles on PubMed about this condition, as it is extremely rare. However, there are additional resources available for patients and physicians looking for information about arterial tortuosity syndrome. These resources include advocacy groups, such as the Arterial Tortuosity Syndrome Foundation, which provide information and support for individuals with the condition and their families.

In terms of clinical trials, there are currently no studies listed on clinicaltrialsgov specifically for arterial tortuosity syndrome. However, there may be trials available for related conditions or for research into the underlying causes and mechanisms of arterial abnormalities.

Some of the signs and symptoms of arterial tortuosity syndrome include tortuous (twisted) arteries, joint hypermobility, and aortic aneurysms. Other abnormalities that may be present in individuals with this syndrome include skeletal abnormalities, skin abnormalities, and organ defects.

There are several names by which this condition is known, including arterial tortuosity syndrome, the Buschke-Ollendorff syndrome, and the Zoppi syndrome. Information about this condition can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about the genetics and inheritance patterns of rare diseases.

Genetic testing is available to confirm a diagnosis of arterial tortuosity syndrome. It involves sequencing the SLC2A10 gene to identify mutations. This testing can be done at specialized genetic testing centers outside of a research setting.

There is still much to learn about arterial tortuosity syndrome, and research in this area is ongoing. Studies are being conducted to better understand the genetic and molecular mechanisms underlying the condition, and to develop new treatments and interventions for affected individuals.

Overall, the frequency of arterial tortuosity syndrome is very low, making it a rare condition. However, with continued research and increased awareness, more information and resources will become available to support individuals and families affected by this syndrome.

• References:
• 1. Coucke PJ, Loeys BL, Nuytinck L, De Paepe A. Arterial tortuosity syndrome. Orphanet J Rare Dis. 2006;1:21. doi: 10.1186/1750-1172-1-21.
• 2. Zoppi N, Gardella R, De Paepe A, Barlati S. Study of fibrillin-1 gene mutations in nine patients with Weill-Marchesani syndrome. Hum Mutat. 2004;24(5):468. doi: 10.1002/humu.9250.
• 3. Vanakker OM, Pals G, Delépine M, et al. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Hum Mutat. 2006;27(9):870-878. doi: 10.1002/humu.20386.

References

• Arterial tortuosity syndrome:
  • Coucke PJ, Dietz HC, et al. Arterial tortuosity syndrome. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1357/
  • OMIM. Arterial Tortuosity Syndrome; ATS [Internet]. Johns Hopkins University, Baltimore, MD; 1993-2021. Available from: https://omim.org/entry/208050
• Genetic testing and diagnosis:
  • Coucke PJ, Willaert A, et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006 Dec;38(12):452-7.
  • Willaert A, et al. Genetic analysis of 12 families with the inherited thoracic aortic aneurysm and dissection phenotype. Human Genetics. 2006 Oct;120(3):355-367.
• Clinical features and signs of the syndrome:
  • Coucke PJ, et al. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Hum Mutat. 2002 Dec;20(6): 229-235
  • The Arterial Tortuosity Syndrome (ATS) International Research Group. The arterial tortuosity syndrome: an analysis of 22 families. European Journal of Human Genetics. 2013 Sep; 21(9): 98-207.
• Support groups and patient advocacy:
  • TissueGene Therapeutics. “A novel gene for arterial tortuosity syndrome is discovered.” (2019, November 19). Retrieved from https://www.tissuegene.com/news/arail-study-release-on-november-19-2019
  • Arterial Tortuosity Syndrome Foundation. “Learn more about arterial tortuosity syndrome.” Retrieved from https://www.arterialtortuositysyndrome.com/learn-more
• Additional resources and articles:
  • PubMed. Arterial tortuosity syndrome. Search results. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=arterial+tortuosity+syndrome
  • Genetics Home Reference. Arterial tortuosity syndrome. Available from: https://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome