Cardiac valvular dysplasia is a rare genetic condition associated with abnormalities in the central valves of the heart. It is sometimes called X-linked cardiac valvular dysplasia, as it is caused by mutations in the FLNA gene on the X chromosome. This genetic mutation affects the production of a protein called filamin-A, which helps support the structure and function of the heart’s valves. X-linked cardiac valvular dysplasia has been found to be more common in males than females due to its X-linked inheritance pattern.

Patients with X-linked cardiac valvular dysplasia may experience a range of symptoms, including heart murmurs, shortness of breath, and chest pain. The frequency and severity of these symptoms can vary widely between individuals. In some cases, the condition may be detected incidentally during a routine medical examination or echocardiogram.

Further research into the causes, diagnosis, and treatment of X-linked cardiac valvular dysplasia is ongoing. Genetic testing and counseling can help to identify the specific mutation causing the condition and provide information about inheritance patterns and recurrence risks for affected families. Close monitoring and regular follow-up with a cardiologist are important for managing the cardiac symptoms associated with this condition.

For more information about X-linked cardiac valvular dysplasia and support resources for patients and families, the Genetics Home Reference and OMIM databases are valuable resources. These databases provide detailed scientific articles, patient advocacy information, and references to further learn about the condition. PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog can also provide additional articles and references on this rare genetic disease.

Frequency

The frequency of X-linked cardiac valvular dysplasia is currently unknown due to its rarity and the limited number of reported cases. The condition is considered to be a rare genetic disorder that affects the valves of the heart.

X-linked cardiac valvular dysplasia is caused by mutations in the FLNA gene, which is located on the X chromosome. This gene provides instructions for making a protein called filamin A, which is involved in the organization of the cell’s internal structure and helps maintain the integrity of the extracellular network.

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There are currently no specific statistics or catalogs that provide information on the frequency of X-linked cardiac valvular dysplasia. However, through advocacy and patient support groups, more cases are being identified and reported, which helps us learn more about the condition and its inheritance patterns.

Most cases of X-linked cardiac valvular dysplasia are inherited in an X-linked recessive manner. This means that the condition primarily affects males, who have one copy of the mutated FLNA gene on their X chromosome. Females are typically carriers of the condition and have one normal copy and one mutated copy of the gene.

There are also other genetic causes of cardiac valvular dysplasia, including mutations in other genes that are not associated with the X chromosome. Some of these genes include the ACTA2, SMAD3, and NOTCH1 genes.

The frequency of myxomatous dystrophy of the valves, which is more common, is reported to be around 2-3% in the general population. This condition is characterized by the degeneration of the valves and the presence of abnormal connective tissue within the valves.

Further scientific research and genetic studies are needed to better understand the frequency and genetic causes of X-linked cardiac valvular dysplasia. Additional resources and information can be found through scientific articles, patient advocacy groups, and databases such as OMIM (Online Mendelian Inheritance in Man).

Causes

X-linked cardiac valvular dysplasia is a rare genetic condition that affects the development of the cardiac valves, specifically the mitral and aortic valves. It is caused by mutations in the FLNA gene, which provides instructions for making the protein filamin-A. Mutations in this gene disrupt the normal functioning of filamin-A, leading to abnormalities in the formation and function of the cardiac valves.

The FLNA gene is located on the X chromosome, and as a result, the condition is inherited in an X-linked recessive manner. This means that the condition primarily affects males, who have one X chromosome, while females may be carriers of the mutated gene but are typically asymptomatic.

The frequency of X-linked cardiac valvular dysplasia is currently unknown. There are only a few reported cases in the medical literature, and further research is needed to determine the exact prevalence of the condition.

There are also other genetic causes of cardiac valvular dysplasia, including mutations in other genes associated with myxomatous dystrophy and other cardiovascular diseases. Some of these genes include HTN1, HTN2, SKI, COL1A2, and TGFBR2. Each gene is associated with a specific type of valvular dysplasia and can be inherited in a different manner.

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To learn more about the genetic causes of X-linked cardiac valvular dysplasia and other related conditions, resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and scientific articles can provide additional information and support. Patient advocacy organizations and genetic counseling centers may also offer further assistance and resources for patients and their families.

Learn more about the gene associated with X-linked cardiac valvular dysplasia

X-linked cardiac valvular dysplasia is a rare condition that affects the valves of the heart. It is caused by a mutation in a gene called filamin-A, which is responsible for creating a protein that helps cells maintain their shape and interact with their environment.

When the filamin-A gene is mutated, it can cause abnormalities in the development and function of the valves in the heart, leading to the symptoms associated with X-linked cardiac valvular dysplasia. This condition is inherited in an X-linked recessive pattern, which means that it primarily affects males. Females are typically carriers of the mutated gene and may have milder symptoms.

To learn more about the gene associated with X-linked cardiac valvular dysplasia, you can visit the following resources:

  1. PubMed: This scientific database provides articles and research papers on a wide range of diseases and genetic conditions. You can search for keywords related to X-linked cardiac valvular dysplasia and filamin-A to find more information.
  2. OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive resource that provides detailed information about the genetic causes of human diseases. You can search for the specific gene associated with X-linked cardiac valvular dysplasia to learn more about its function and the mutations that can lead to the condition.
  3. CDC – Filamin A-Associated Cardiac Valvular Dysplasia: The Centers for Disease Control and Prevention (CDC) provides educational resources and support for patients and families affected by genetic conditions. Their website contains information about X-linked cardiac valvular dysplasia and additional resources for further reading.

By exploring these resources, you can gain a better understanding of the genetic causes of X-linked cardiac valvular dysplasia and how it affects the cardiovascular system. This knowledge can help support patients and their families in managing this rare condition.

Inheritance

X-linked cardiac valvular dysplasia is a rare genetic condition that is associated with mutations in the FLNA gene, which codes for the protein filamin A. This condition causes abnormalities in the development and function of the heart valves, leading to myxomatous valve dystrophy.

The FLNA gene is located on the X chromosome, which means that this condition is inherited in an X-linked recessive manner. This means that the gene mutation is located on the X chromosome, and males who inherit the mutation are more likely to show symptoms of the condition than females.

Because males have only one X chromosome, if they inherit the mutation from their mother, they will develop the condition. Females, on the other hand, have two X chromosomes, so they have a higher chance of being carriers of the mutation rather than showing symptoms. However, in some rare cases, females with two copies of the mutated FLNA gene can also develop symptoms of the condition.

The inheritance pattern of X-linked cardiac valvular dysplasia can be better understood through a pedigree analysis. In families affected by the condition, males will often show the symptoms, while females may only carry the mutated gene without showing symptoms themselves.

To learn more about the inheritance of X-linked cardiac valvular dysplasia, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic causes and inheritance patterns of various genetic diseases. The Genetic and Rare Diseases Information Center (GARD) offers support and resources for patients and families affected by rare diseases.

Scientific articles published in PubMed also provide further information about the genetic causes and inheritance patterns of X-linked cardiac valvular dysplasia. These articles can be searched using keywords such as “X-linked cardiac valvular dysplasia,” “FLNA gene,” and “myxomatous valve dystrophy.”

Overall, understanding the inheritance of X-linked cardiac valvular dysplasia can help support the diagnosis and treatment of affected individuals and provide important information for genetic counseling.

Other Names for This Condition

This condition, X-linked cardiac valvular dysplasia, is also known by several other names:

  • Filamin-A-associated X-linked cardiac valvular dysplasia
  • Valvular dystrophy
  • Myxomatous valvular dystrophy
  • X-linked valvular dystrophy
  • Valvular dysplasia

These various names are used to describe the same condition and are often used interchangeably.

X-linked cardiac valvular dysplasia is a rare genetic condition that primarily affects the development and function of the heart valves. It is caused by mutations in the FLNA gene, which is located on the X chromosome. The FLNA gene provides instructions for making the filamin-A protein, which is involved in supporting the structure of cells and in regulating their movement.

Individuals with X-linked cardiac valvular dysplasia may experience a range of symptoms, including heart murmurs, abnormal heart rhythms, shortness of breath, and fatigue. The severity of the condition can vary among affected individuals, even within the same family.

Currently, there is limited scientific knowledge and understanding about this condition. Further research and genetic studies are needed to learn more about the causes, frequency, and inheritance patterns of X-linked cardiac valvular dysplasia.

For more information about X-linked cardiac valvular dysplasia, you can visit the following resources:

  • The OMIM database: provides scientific information, references, and genetic support for this condition.
  • PubMed: offers articles and research publications on X-linked cardiac valvular dysplasia.
  • The Cardiovascular Disease Genetics Network: a network of advocacy groups, researchers, and scientists dedicated to improving understanding and support for individuals with genetic heart diseases.
  • The Valvular Dystrophy Network: a central hub of information on valvular dystrophy and related conditions.
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By learning more about X-linked cardiac valvular dysplasia and related conditions, we can work towards better diagnosis, treatment, and support for affected individuals and their families.

Additional Information Resources

Further information about X-linked cardiac valvular dysplasia can be found through the following resources:

  • OMIM: OMIM is a database that provides information about the genes, genetic conditions, and associated diseases. It contains detailed information about X-linked cardiac valvular dysplasia, including its causes and inheritance patterns. The OMIM entry for valvular dysplasia (OMIM #314400) can be accessed at https://www.omim.org/entry/314400.
  • PubMed: PubMed is a scientific database that provides access to a vast collection of research articles. It can be used to find scientific publications related to X-linked cardiac valvular dysplasia. Searching for keywords such as “X-linked cardiac valvular dysplasia” or “valvular dysplasia FILAMIN-A” in PubMed can provide more articles and studies on the condition.
  • The Filamin-A Patient Advocacy Network: The Filamin-A Patient Advocacy Network is a support and advocacy group for individuals and families affected by filamin-A-associated diseases, including X-linked cardiac valvular dysplasia. They provide resources, support, and information about the condition on their website, which can be accessed at http://www.filamin-a.org.
  • The Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center (GARD) is a federally-funded resource that provides information about genetic and rare diseases. GARD has a comprehensive catalog of information about X-linked cardiac valvular dysplasia, including genetic testing, inheritance patterns, and treatment options. Their page on X-linked valvular dysplasia can be found at https://rarediseases.info.nih.gov/diseases/5940/index.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a central resource for information on rare and genetic diseases. It provides information about a wide range of conditions, including X-linked cardiac valvular dysplasia.

X-linked cardiac valvular dysplasia is a rare condition that is inherited in an X-linked manner. This means that the gene mutation that causes the condition is located on the X chromosome. When a woman carries a copy of the mutated gene, she has a 50% chance of passing it on to each of her children.

X-linked cardiac valvular dysplasia affects the valves in the heart, causing them to be abnormal or malformed. This can lead to problems with the flow of blood through the heart, which can in turn cause symptoms such as shortness of breath, fatigue, and chest pain.

The condition is also sometimes called filamin-A-associated myxomatous valvular dystrophy due to its association with mutations in the filamin-A gene. Filamin-A plays a role in the extracellular matrix, which is the network of molecules that provides support to cells in the body.

For more information on X-linked cardiac valvular dysplasia, you can visit the Genetic and Rare Diseases Information Center’s website. They provide resources such as articles, scientific references, and genetic counseling support. You can also learn more about the condition on other websites, such as OMIM and PubMed.

In addition to filamin-A, there may be other genes involved in the development of X-linked cardiac valvular dysplasia. Further research is needed to understand the exact causes of this condition.

Patients and their families can find advocacy and support from organizations dedicated to genetic and rare diseases. These organizations provide information and resources for individuals affected by X-linked cardiac valvular dysplasia and other rare conditions.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for anyone looking to learn more about X-linked cardiac valvular dysplasia and other rare genetic diseases.

Patient Support and Advocacy Resources

Patients and families affected by X-linked cardiac valvular dysplasia can find support and advocacy resources through various organizations. These resources provide information and assistance to help individuals better understand and manage their condition.

  • OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive source of information on genetic conditions. It offers a database of genes and associated disorders, including X-linked cardiac valvular dysplasia. Patients and families can find more information about the causes, inheritance patterns, and symptoms of this condition on the OMIM platform.
  • Genetic and Rare Diseases Information Center (GARD): GARD is a center of information for rare genetic diseases. It provides resources on X-linked cardiac valvular dysplasia, including information about causes, signs and symptoms, and treatment options. Patients can access articles, reports, and more on the GARD website.
  • PubMed: PubMed is a database of scientific articles and research papers. It can be a valuable resource for patients and families seeking more in-depth information about X-linked cardiac valvular dysplasia. PubMed allows users to search for studies and publications related to this condition, helping them to learn more about the latest research and advancements.
  • National Organization for Rare Disorders (NORD): NORD is an advocacy organization that provides support and resources for individuals with rare diseases and their families. It offers patient support programs, educational materials, and connects patients with advocacy groups and other resources specific to X-linked cardiac valvular dysplasia.
  • Cardiovascular Genetics Fact Sheet: This fact sheet, developed by the American Heart Association, provides additional information about X-linked cardiac valvular dysplasia and other genetic causes of heart valve diseases. It offers an overview of the condition, its frequency, inheritance patterns, and more.
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These resources, along with patient support and advocacy groups, can help individuals affected by X-linked cardiac valvular dysplasia access the information and assistance they need. They provide a network of support, ensuring that patients and families have the necessary tools to navigate their condition and make informed decisions about their healthcare.

References:

– OMIM. Available at: https://omim.org/

– Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/

– PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/

– National Organization for Rare Disorders (NORD). Available at: https://rarediseases.org/

– American Heart Association. Cardiovascular Genetics Fact Sheet. Available at: https://www.heart.org/en/health-topics/heart-valve-problems-and-disease/cardiovascular-genetics-fact-sheet

Catalog of Genes and Diseases from OMIM

In the field of genetics, the Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive resource of information about various genetic disorders and the associated genes. OMIM is a central database that offers a wealth of articles, scientific papers, and other resources to help researchers and healthcare professionals learn more about different genetic conditions.

One such condition included in the catalog is X-linked cardiac valvular dysplasia, also known as merot or filamin-A-associated cardiac valvular dysplasia. This rare genetic disorder affects the cardiac valves, specifically causing myxomatous changes in the extracellular matrix of the valves’ cells. The inheritance of this condition is X-linked, meaning it is associated with genetic mutations on the X chromosome.

The catalog provides further information on the genes associated with X-linked cardiac valvular dysplasia, with references to scientific publications and OMIM entries for each gene. Familial cases of the condition, called familial merot, are also included in the catalog along with their associated genes.

The catalog also helps support advocacy and patient networks for X-linked cardiac valvular dysplasia, providing resources for individuals and families affected by the condition. Through the catalog, individuals can learn more about the causes and frequency of the disease, as well as available genetic testing and treatment options.

Within the catalog, users can find additional information about other diseases and conditions affecting the cardiovascular system. OMIM covers a wide range of genetic diseases, and its catalog serves as a valuable tool for researchers, clinicians, and patients seeking information on various genetic conditions.

For more information about X-linked cardiac valvular dysplasia and other related diseases, the OMIM catalog is a valuable resource that can be accessed through their website or through PubMed, a database of scientific publications.

Genes Diseases
X-linked cardiac valvular dysplasia Merot
Filamin-A-associated cardiac valvular dysplasia Myxomatous valvular dystrophy

Scientific Articles on PubMed

In the pursuit of understanding X-linked cardiac valvular dysplasia, numerous scientific articles have been published on PubMed. Each article provides valuable information on various aspects of the condition, contributing to our understanding of its causes and effects.

One area of focus in these articles is the role of extracellular matrix in valvular dysplasia. Familial cases of X-linked cardiac valvular dysplasia have been studied, shedding more light on its genetic basis and inheritance patterns.

Advocacy organizations and research centers have played a crucial role in supporting research on this rare genetic condition. Their close collaboration with scientists has led to a better understanding of the disease and improved patient support networks.

One of the main genes associated with X-linked cardiac valvular dysplasia is called filamin-A. This gene is responsible for the production of a protein that helps in the formation and maintenance of the extracellular matrix in cardiac valves.

Through the examination of gene copies and inheritance patterns, scientists have been able to identify further genetic factors that may be involved in X-linked cardiac valvular dysplasia. This knowledge has opened up new avenues for research into other related diseases and offered valuable information to patients and healthcare professionals.

The OMIM database, a catalog of genes and genetic conditions, provides additional resources for studying X-linked cardiac valvular dysplasia. Researchers can access references and articles through this comprehensive database, which helps to further the understanding of this condition.

Cardiac valvular dysplasia is characterized by the abnormal development and function of the heart valves. This can lead to various cardiovascular complications, requiring careful management and treatment.

Understanding the underlying genetic causes of X-linked cardiac valvular dysplasia is essential for improving patient care and developing targeted therapies. With continued research and collaboration, we can hope to provide a brighter future for individuals affected by this condition.

References