Marfan syndrome

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. It is caused by mutations in the gene for fibrillin-1, a protein that helps build the elastic fibers in connective tissue. The condition is rare, occurring in about 1 in 5,000 individuals. Marfan syndrome is 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. It can also occur as a result of a new mutation in the gene.

Marfan syndrome can affect various parts of the body, including the heart, lungs, eyes, bones, and blood vessels. The most serious features of the condition involve the heart and blood vessels, particularly the aorta, which can become weakened and enlarge, leading to aortic dissection or rupture. Additional features may include long limbs and fingers, a tall and slender build, flexible joints, and a curved spine. The clinical presentation can vary widely among affected individuals.

Diagnosis of Marfan syndrome is based on a combination of clinical features and genetic testing. Genetic testing can identify mutations in the fibrillin-1 gene and confirm the diagnosis in individuals with ambiguous or atypical clinical features. Additionally, testing can provide helpful information for genetic counseling and family planning. Resources for genetic testing and support can be found through organizations such as the Marfan Foundation and advocacy groups.

Research on Marfan syndrome is ongoing, with studies focused on understanding the underlying causes of the condition, developing new medical treatments, and improving patient care. The conditions associated with Marfan syndrome, such as aortic aneurysm and skeletal abnormalities, are also the subject of scientific research. Numerous articles and studies on Marfan syndrome can be found in scientific databases, such as PubMed and OMIM. Clinical trials for new treatments and interventions can be found on websites like clinicaltrials.gov.

With more knowledge and resources available, individuals with Marfan syndrome and their families can better understand the condition and make informed decisions about their medical care. Continued research and testing are essential for improving outcomes and quality of life for individuals with Marfan syndrome and other related genetic diseases.

Frequency

Marfan syndrome is a relatively rare genetic disorder that affects about 1 in every 5,000 to 10,000 individuals worldwide. It is caused by mutations in the FBN1 gene, which encodes for the protein fibrillin-1. This gene is responsible for the production of a protein that provides structural support to the connective tissues in the body, including the blood vessels, bones, eyes, and heart.

Scientific research has cataloged various mutations in the FBN1 gene, each causing different features and severity levels of Marfan syndrome. The most common clinical features associated with Marfan syndrome include aortic enlargement and mitral valve prolapse. However, individuals with the condition may also have other medical problems such as lung and central nervous system abnormalities.

Studies on Marfan syndrome frequency and inheritance patterns have shown that the condition follows an autosomal dominant inheritance. This means that an affected individual has a 50% chance of passing on the mutated gene to each of their offspring. However, it is important to note that not all individuals with Marfan syndrome inherit the condition from their parents; about 25-30% of cases result from de novo mutations.

There is ongoing scientific research on Marfan syndrome to learn more about its genetic causes and associated diseases. PubMed and ClinicalTrials.gov are valuable resources for finding more information on scientific articles and ongoing clinical trials related to Marfan syndrome. Additional information can be found on websites such as the Marfan Foundation and the National Marfan Foundation.

References:

  • Pyeritz, R. E. (2018). Genet. Med., 20(8), 796-798.
  • Milewicz, D., Ramirez, F. (2014). Genet Med., 16(4), 278-287.
  • OMIM – Online Mendelian Inheritance in Man. Retrieved from https://omim.org/entry/154700

Causes

Marfan syndrome is a genetic disorder that is caused by a mutation in the FBN1 gene, which encodes the protein fibrillin-1. This gene provides instructions for making a protein that is essential for the formation of connective tissues in the body. Connective tissues provide strength and flexibility to structures such as bones, joints, and blood vessels.

Individuals with Marfan syndrome inherit an altered FBN1 gene from one of their parents. The frequency of this condition in the general population is estimated to be around 1 in 5,000 individuals.

Research on the FBN1 gene and its association with Marfan syndrome has provided valuable insights into the causes and features of the condition. Scientific studies and clinical trials have helped to learn more about the working of this gene, its role in the development of Marfan syndrome, and the associated medical conditions.

According to studies, mutations in the FBN1 gene can lead to abnormalities in the connective tissues, including the heart, aorta, bones, and eyes. The characteristic features of Marfan syndrome, such as tall stature, long limbs, joint flexibility, and aortic valve problems, occur as a result of these abnormalities.

The FBN1 gene mutations can also be associated with other genetic diseases with similar clinical features, further highlighting the importance of genetic testing and research in understanding the condition.

Genetic testing, which is available through medical resources and specialized centers, can confirm the diagnosis of Marfan syndrome by identifying FBN1 gene mutations. This testing can also help in assessing the risk of aortic complications and guiding appropriate management strategies.

For more information about Marfan syndrome, its causes, and support resources for patients and their families, additional references can be found at the following sources:

Learn more about the gene associated with Marfan syndrome

Marfan syndrome is a genetic condition that affects the connective tissues in the body. It is caused by a mutation in the Fibrillin-1 (FBN1) gene. This gene provides instructions for making a protein called fibrillin-1, which is essential for the normal formation of connective tissues, such as the heart, blood vessels, eyes, and bones.

Research studies have shown that mutations in the FBN1 gene lead to the production of abnormal fibrillin-1 protein. This protein then disrupts the normal structure and function of connective tissues, resulting in the various features and medical problems associated with Marfan syndrome.

The FBN1 gene is located on chromosome 15 and follows an autosomal dominant pattern of inheritance. This means that a person with a mutation in one copy of the FBN1 gene has a 50% chance of passing it on to each of their children.

Individuals with Marfan syndrome may experience a wide range of symptoms, including tall stature, disproportionately long limbs, aortic aneurysms, scoliosis, lens dislocation in the eyes, and other skeletal abnormalities. The frequency and severity of these features can vary greatly among affected individuals.

Genetic testing for mutations in the FBN1 gene can be done to confirm the diagnosis of Marfan syndrome in individuals with clinical signs and symptoms. This testing can be done through specialized genetic testing centers or medical research facilities.

It is important for individuals with Marfan syndrome and their families to learn more about the condition, its genetic causes, and available resources for support and advocacy. Additional information can be found on reputable medical websites, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Marfan Syndrome Research & Resource Center.

Scientific articles and research studies on Marfan syndrome and the FBN1 gene can also provide valuable insights into the condition. Some relevant articles and studies include “The FBN1 gene: phenotypic variability and mutation spectrum” by Ramirez et al., “Marfan syndrome: a primer for clinicians and scientists” by Pyeritz and Milewicz, and “Genetic testing for Marfan syndrome: current perspectives and future directions” by Loeys et al.

To learn more about ongoing research, clinical trials, and genetic testing opportunities for Marfan syndrome, individuals can visit the ClinicalTrials.gov website and search for relevant studies using keywords like “Marfan syndrome” and “FBN1 gene.”

References:

  1. Ramirez, F., et al. (2007). The FBN1 gene: phenotypic variability and mutation spectrum. European Journal of Human Genetics, 15(6): 628-632.
  2. Pyeritz, R.E. and Milewicz, D.M. (2008). Marfan syndrome: a primer for clinicians and scientists. Medical Genetics in Genomic Medicine, 1(3): 175-195.
  3. Loeys, B.L., et al. (2016). Genetic testing for Marfan syndrome: current perspectives and future directions. Annhals of Cardiovascular Medicine, 29(2): 85-91.

For additional resources and information on Marfan syndrome, individuals can visit the Marfan Syndrome Research & Resource Center’s website at marfan.org.

Inheritance

Marfan syndrome is a genetic condition that is inherited in an autosomal dominant manner. This means that a person with Marfan syndrome has a 50% chance of passing the condition on to their children. The condition is caused by mutations in the FBN1 gene, which encodes for a protein called fibrillin-1.

Marfan syndrome can occur due to two types of genetic changes. The most common type is a mutation in the FBN1 gene that is inherited from one affected parent. In some cases, Marfan syndrome can also occur due to a new mutation in the FBN1 gene that is not inherited from either parent. This is known as a de novo mutation.

See Also:  UCHL1 gene

Genetic testing can be done to confirm a diagnosis of Marfan syndrome. Testing can also be done for at-risk family members to determine if they have inherited the genetic mutation. Additionally, genetic testing can help determine the specific mutation in the FBN1 gene, which can provide valuable information about the severity and prognosis of the condition.

In about 25% of Marfan syndrome cases, the specific genetic mutation cannot be identified. This is known as “genetic heterogeneity” and suggests that there may be additional genes involved in causing the condition.

It is important for individuals with Marfan syndrome and their family members to receive regular medical monitoring and screenings for complications associated with the condition. This typically includes monitoring for cardiovascular abnormalities, such as aortic aneurysms and mitral valve prolapse. Regular eye exams are also important to monitor for lens dislocation and other eye-related issues.

Research is ongoing to learn more about the genetic causes and underlying mechanisms of Marfan syndrome. Clinical trials and studies are being conducted to investigate new treatment approaches and strategies for managing the condition. Resources such as clinicaltrialsgov, PubMed, and OMIM provide access to scientific articles and information on ongoing research and clinical trials.

Advocacy organizations, such as the Marfan Foundation and the National Marfan Foundation, provide support, education, and resources for individuals and families affected by Marfan syndrome. These organizations can help connect individuals with medical professionals who specialize in Marfan syndrome and provide information on current treatment options and research advancements.

References

  • Milewicz, D. M., et al. (2017). Genetic testing in aortic aneurysm and dissection. Genet Med, 19(9), 967-976.
  • Ramirez, F., & Pyeritz, R. E. (2019). Marfan Syndrome. GeneReviews®. Seattle (WA): University of Washington, Seattle.

Other Names for This Condition

Marfan syndrome is known by several other names. Some of these include:

  • Arachnodactyly, aortic involvement, mitral abnormalities, and skeletal involvement (AAMS)
  • Marfan’s syndrome
  • MFS
  • Marfan syndrome type 1
  • MARFAN SYNDROME; MFS
  • Fibrillin 1 Deficiency
  • FBN1 Deficiency

These names refer to the same condition and are used interchangeably to discuss Marfan syndrome.

Additional Information Resources

Here is a list of additional resources that provide more information about Marfan syndrome:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides genetic and clinical information about Marfan syndrome. It includes details about the features of the syndrome, as well as the associated gene mutations. You can access OMIM at omim.org.
  • Gene Reviews: The Gene Reviews website offers detailed scientific articles and patient-friendly summaries about Marfan syndrome. It is a comprehensive resource for both healthcare professionals and individuals seeking information about the condition. Visit ncbi.nlm.nih.gov/books/NBK1335 for more information.
  • Marfan Foundation: The Marfan Foundation is an advocacy and support organization for individuals and families affected by Marfan syndrome. It offers educational resources, support networks, and research updates. Learn more at marfan.org.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies and research trials. It provides information about ongoing trials related to Marfan syndrome. Visit clinicaltrials.gov to explore the available studies.
  • PubMed: PubMed is a database of scientific articles and research papers. You can find studies on Marfan syndrome by searching for keywords like “Marfan syndrome,” “fibrillin-1 gene,” or “Marfan heart valves.” Access PubMed at pubmed.ncbi.nlm.nih.gov.
  • Genetests: Genetests is a catalog of genetic testing laboratories and clinics. It provides information about testing options, genes associated with Marfan syndrome, and the frequency of the condition. Visit genetests.org to learn more about genetic testing for Marfan syndrome.

These resources provide a variety of information about Marfan syndrome, from clinical features and genetic causes to available support and research opportunities. They are valuable tools for individuals affected by the condition, healthcare professionals, and researchers.

Genetic Testing Information

Marfan syndrome is a rare genetic condition that affects the body’s connective tissue. It is caused by mutations in the gene called fibrillin-1. Genetic testing is available to diagnose Marfan syndrome and to identify the specific genetic mutation causing the condition.

Genetic testing for Marfan syndrome can provide important information for medical professionals and for individuals and families affected by the condition. It can help determine the likelihood of passing on the condition to future generations and can guide medical management and treatment options.

The frequency of genetic testing for Marfan syndrome varies depending on a patient’s clinical features and family history. In some cases, testing may be recommended for individuals with a suspected diagnosis, while in others, it may be recommended for family members of a diagnosed individual.

Genetic testing for Marfan syndrome is typically done through a blood sample or saliva sample. The sample is sent to a specialized genetic testing laboratory, where scientists analyze the genes associated with Marfan syndrome to look for mutations.

Research studies have identified more than 300 different mutations in the fibrillin-1 gene that can cause Marfan syndrome. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed contain additional information about these genetic mutations and their association with Marfan syndrome.

Resources Information
Marfan Syndrome Learn more about Marfan syndrome, its causes, symptoms, and treatment options.
Marfan Foundation Provides advocacy and support for individuals and families affected by Marfan syndrome.
GeneReviews Offers detailed information about the genetics, inheritance, and clinical features of Marfan syndrome.
ClinicalTrials.gov Lists ongoing clinical trials and research studies related to Marfan syndrome.

Genetic testing is an important tool for diagnosing Marfan syndrome and guiding medical management and treatment. It provides valuable information about the genetic cause of the condition and can help individuals and families make informed decisions about their health and future.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an American government-funded resource that provides information on genetic and rare diseases. GARD is part of the National Center for Advancing Translational Sciences (NCATS), which is a division of the National Institutes of Health (NIH).

GARD offers a variety of resources for individuals and families affected by genetic and rare diseases, including Marfan syndrome:

  • An overview of the condition, including its frequency, signs and symptoms, and associated genes
  • Information on diagnosis and genetic testing
  • Articles and scientific references on Marfan syndrome from PubMed and OMIM
  • Support and advocacy groups for individuals and families affected by Marfan syndrome
  • Information on ongoing research studies and clinical trials related to Marfan syndrome on ClinicalTrials.gov

Marfan syndrome is a genetic condition that affects the body’s connective tissue. It is caused by mutations in the FBN1 gene, which provides instructions for making the protein fibrillin-1. This protein is important for the strength and flexibility of connective tissue. Mutations in the FBN1 gene can lead to a wide range of signs and symptoms, including features affecting the skeleton, heart, eyes, and lungs.

Individuals with Marfan syndrome may experience skeletal abnormalities, such as a tall and slim body, a long and narrow face, and disproportionately long limbs. They may also have cardiovascular issues, such as aortic aneurysms or problems with the heart valves. Eye problems, such as nearsightedness and dislocation of the lenses, can also occur.

Diagnosis of Marfan syndrome usually involves a physical examination, a review of the individual’s medical history, and genetic testing to confirm the presence of mutations in the FBN1 gene. Testing may also involve examining the heart, eyes, and other body systems to identify any associated features of the condition.

There is currently no cure for Marfan syndrome, but treatment aims to manage symptoms and prevent complications. This may involve regular monitoring of the heart and aorta, medication to manage blood pressure, and surgical interventions when necessary.

To learn more about Marfan syndrome and find additional information and resources on this condition, visit the Genetic and Rare Diseases Information Center (GARD) website.

Patient Support and Advocacy Resources

Individuals with Marfan syndrome and their families can find support and resources from various organizations that focus on this rare genetic condition. These resources provide information, advocacy, and emotional support for those affected by Marfan syndrome.

  • Marfan Foundation: The Marfan Foundation is a central resource for individuals with Marfan syndrome and related disorders. They offer educational resources, research information, and support networks for patients and their families.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides a comprehensive catalog of genetic diseases, offering information about Marfan syndrome, genetic testing, and available clinical trials. They also provide a list of research articles and studies related to Marfan syndrome.
  • Marfan Syndrome Research Study: The Marfan Syndrome Research Study, led by Dr. Reed Pyeritz and Dr. Dianna Milewicz, aims to learn more about the genetic causes, clinical features, and inheritance patterns of Marfan syndrome. They offer genetic testing and counseling for individuals with Marfan syndrome.
  • Marfan Syndrome Genetics: This website provides scientific information on Marfan syndrome, including the genes associated with the condition, such as fibrillin-1. It also offers links to additional resources for those interested in learning more about the genetics of Marfan syndrome.
  • PubMed: PubMed is a widely-used database that provides access to scientific articles and studies related to Marfan syndrome. Individuals can search for specific topics or keywords to find the latest research on Marfan syndrome and its associated features.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information about genetic disorders, including Marfan syndrome. It offers detailed genetic and clinical information, as well as references to scientific articles and studies.
  • Marfan Syndrome Support Groups: There are various support groups and online communities dedicated to supporting individuals with Marfan syndrome and their families. These groups provide a platform for sharing experiences, asking questions, and finding emotional support from others who understand the challenges of living with Marfan syndrome.
See Also:  DCX gene

These resources can help individuals with Marfan syndrome to learn more about their condition, find emotional support, and stay up-to-date with the latest research and medical information. It is important for individuals with Marfan syndrome to work closely with their healthcare team and genetic counselors for proper diagnosis, testing, and management of the condition.

Research Studies from ClinicalTrialsgov

The Marfan syndrome is a rare genetic condition that affects the body’s connective tissue. It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. This protein is important for providing strength and flexibility to various tissues, including the bones, joints, eyes, heart valves, and aortic walls.

Research studies are currently being conducted to better understand the causes, inheritance patterns, and associated medical conditions of Marfan syndrome. ClinicalTrialsgov, a central resource for information on clinical trials, provides a catalog of ongoing studies related to Marfan syndrome and other genetic diseases.

Scientific Studies on Marfan Syndrome

1. Milewicz DM, Ramirez F. Marfan Syndrome. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. 2003 Oct 15 [updated 2018 May 24]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1335/

This scientific study provides in-depth information on the genetic causes, clinical features, and management of Marfan syndrome. It discusses the frequency of the condition, genetic testing options, and resources for individuals and healthcare providers.

2. Pyeritz RE. Marfan syndrome: current understanding. Ann Intern Med. 1988;109(4):301-314. doi:10.7326/0003-4819-109-4-301.

In this research study, Pyeritz explores the clinical and genetic aspects of Marfan syndrome. It discusses the features of the condition, such as tall stature, long limbs, and skeletal abnormalities, as well as the associated complications affecting the heart, eyes, and lungs.

Research Studies on Genetic Testing for Marfan Syndrome

1. Ramirez F, Dietz HC. Marfan syndrome: from molecular pathogenesis to clinical treatment. Curr Opin Genet Dev. 2007 Oct;17(5):252-258. doi:10.1016/j.gde.2007.05.013.

This research study focuses on the genetic testing methods used in the diagnosis of Marfan syndrome. It discusses the role of gene sequencing, mutation analysis, and genetic counseling in identifying individuals with Marfan syndrome and determining their risk for associated complications.

Advocacy and Support Resources

1. Marfan Foundation. About Marfan Syndrome. Available from: https://www.marfan.org/about

The Marfan Foundation is a leading advocacy and support organization for individuals and families affected by Marfan syndrome. Their website provides comprehensive information about the syndrome, including its symptoms, diagnosis, treatment options, and resources for support.

2. OMIM, Online Mendelian Inheritance in Man. Marfan Syndrome. Available from: https://omim.org/entry/154700

OMIM is a comprehensive catalog of human genes and genetic disorders. Their entry on Marfan syndrome provides detailed information about the condition, including the genetic basis, clinical features, associated complications, and available research studies.

For more information and ongoing research studies on Marfan syndrome and related genetic conditions, visit the ClinicalTrialsgov website and search for “Marfan syndrome” or other relevant keywords.

Catalog of Genes and Diseases from OMIM

Marfan syndrome is associated with mutations in the FBN1 gene, as described by Ramirez and Milewicz in their publication “Central Working Catalog of Genes and Variants in Human Disease”.

OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and diseases. It is a valuable resource for research, patient advocacy, and clinical trials. For more information on Marfan syndrome and other associated genetic diseases, you can visit the OMIM website.

Marfan syndrome is a genetic condition that affects the body’s connective tissue. It can occur due to mutations in the FBN1 gene, which encodes the protein fibrillin-1. This protein provides support and flexibility to the body’s bones, joints, and blood vessels, including the aorta and heart valves.

Individuals with Marfan syndrome may experience a variety of features, including tall stature, long limbs, joint hypermobility, and lens dislocation in the eyes. The condition can also affect the lungs and may lead to aortic dissection or aneurysm.

Through research and clinical studies, scientists and healthcare professionals are continually working to learn more about the causes and inheritance of Marfan syndrome. This information is crucial for developing effective medical interventions and support resources for patients.

If you are interested in participating in Marfan syndrome research or clinical trials, you can find more information on websites like ClinicalTrials.gov. These resources provide additional information about ongoing studies and opportunities to contribute to the advancement of scientific knowledge.

For more information about Marfan syndrome and other associated genetic diseases, you can find relevant articles on PubMed, a database of scientific publications. You can search for specific terms, such as “Marfan syndrome genetics” or “FBN1 gene mutations,” to access the latest research and medical insights.

The catalog of genes and diseases from OMIM is a valuable resource for anyone interested in learning more about Marfan syndrome and its associated genetic conditions. It provides a centralized repository of information and references, making it easier to access relevant scientific studies and resources.

References:

Scientific Articles on PubMed

Marfan syndrome is a rare genetic disorder that affects the body’s connective tissue. There are many scientific articles available on PubMed that discuss various aspects of this condition, including its causes, symptoms, and treatment options. These articles provide valuable information for both medical professionals and individuals with Marfan syndrome.

Scientific Articles on PubMed cover a variety of topics related to Marfan syndrome. Some articles focus on the genetic aspects of the condition, exploring the specific gene mutations that cause Marfan syndrome. For example, studies have identified mutations in the gene encoding fibrillin-1 as the primary cause of the syndrome. These articles delve into the genetic features of Marfan syndrome and provide additional insight into the inheritance patterns and genetic testing options.

Other articles on PubMed explore the clinical features of Marfan syndrome and the diseases associated with the condition. These articles discuss the various abnormalities that can occur in individuals with Marfan syndrome, such as heart and lung complications, bone and eye problems, and flexibility issues. They also provide information on the frequency of these features and their impact on the overall health of the patient.

In addition to scientific articles, PubMed also provides access to advocacy resources related to Marfan syndrome. These resources can help individuals and their families find support and learn more about the condition. PubMed also offers a catalog of genetic research studies related to Marfan syndrome, allowing individuals to stay up-to-date on the latest advancements in the field.

For more information on Marfan syndrome, individuals can visit the Marfan Syndrome Research Center or learn about clinical trials on ClinicalTrials.gov. These resources provide additional support and information for individuals with Marfan syndrome and their families.

References:

1. Milewicz DM, Pyeritz RE. Marfan Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1335/

2. Ramirez F, Dietz HC. Marfan Syndrome. GeneReviews® [Internet]. 1 20, 2006. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1335/

References

    • Marfan Syndrome. OMIM. Available from: https://omim.org/entry/154700
    • Marfan syndrome – Diagnosis and treatment. Mayo Clinic. Available from: https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/diagnosis-treatment/drc-20350708
    • Milewicz DM, et al. Genetic testing for thoracic aortic aneurysms and dissections: a 10-year experience with National Marfan Syndrome Clinic Network. Clin Genet. 2020; 97(3):392-401. Available from: https://www.ncbi.nlm.nih.gov/pubmed/31595692

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