Familial restrictive cardiomyopathy

Familial restrictive cardiomyopathy (RCM) is a rare genetic condition that affects the heart’s ability to contract and relax properly, leading to impaired heart function. Patients with familial RCM often experience symptoms such as fatigue, shortness of breath, and swelling in the legs. The exact cause of familial RCM is not fully understood, but research suggests that mutations in certain genes may play a role in the development of this condition.

Genetic testing can be done to identify specific mutations associated with familial RCM. This testing can help in diagnosing the condition and determining the best course of treatment. There are several genes that have been identified to be associated with familial RCM, including TNNI3 and MYH7. However, there may be additional unknown genes that are also involved in the development of this condition.

Support and advocacy groups, such as the Familial Restrictive Cardiomyopathy Registry, provide resources and information for patients and their families. These groups aim to raise awareness about the condition and support scientific research into its causes and potential treatments. The registry collects patient information and builds a catalog of references and citations from scientific articles, PubMed, OMIM, and other resources.

Since familial RCM is a rare condition, its frequency in the general population is not well known. ClinicalTrials.gov is a valuable resource for learning about ongoing research studies and clinical trials related to familial RCM. This information can provide patients with the opportunity to participate in research and potentially benefit from new treatments and interventions.

Frequency

Familial restrictive cardiomyopathy (FRCM) is a rare genetic condition that affects the heart. Its frequency is largely unknown due to limited scientific research and resources dedicated to studying this specific condition. However, studies suggest that FRCM may be less common than other forms of cardiomyopathy.

Information about the frequency of FRCM is often obtained from case reports, clinical trials, and registries. The Online Mendelian Inheritance in Man (OMIM) catalog, PubMed articles, and clinicaltrialsgov are some of the resources that provide additional information on the frequency and associated genes.

Genetic testing is often necessary to fully understand the genetic causes and inheritance patterns of FRCM. There are known genes, such as TNNI3, associated with FRCM, but mutations in other genes may also contribute to the condition.

Patient advocacy groups and support networks can provide further information and resources for individuals and families affected by FRCM. These organizations can assist with genetic testing, clinical trials, and research studies.

The clinical presentation of FRCM varies from patient to patient, with symptoms including fatigue, impaired heart contraction, and buildup of other heart conditions. It is important for individuals with a family history of FRCM or symptoms consistent with the condition to seek medical advice for diagnosis and management.

References:

Online Mendelian Inheritance in Man (OMIM) database. Retrieved from https://www.omim.org/
PubMed database. Retrieved from https://pubmed.ncbi.nlm.nih.gov/
clinicaltrialsgov database. Retrieved from https://clinicaltrials.gov/
American Heart Association. Familial Restrictive Cardiomyopathy. Circulation: Cardiovascular Genetics. Retrieved from https://www.ahajournals.org/doi/10.1161/CIRCGENETICS.111.000121

Causes

Familial restrictive cardiomyopathy (FRC) can be caused by a variety of factors. In some cases, the condition is caused by a buildup of certain proteins in the heart muscle, which can impair its ability to contract and relax properly. This buildup can be due to mutations in specific genes, such as TNNI3. Additional research and testing are needed to fully understand the role of these genes in causing FRC.

Inheritance plays a role in FRC, with the condition often running in families. If a patient has a family history of FRC, genetic testing may be recommended to identify the specific gene mutations associated with the condition. Information about these genes and their associated mutations can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and the Human Gene Mutation Database.

While the exact frequency of FRC caused by specific genes is unknown, studies have identified mutations in genes such as TNNI3 as a cause of the condition. Several articles and scientific studies have been published on the subject, providing more information about the genetics and inheritance of FRC. References to these articles can be found in scientific databases such as PubMed.

It is important to note that FRC can also be caused by factors other than gene mutations. For example, certain diseases and conditions, such as amyloidosis and sarcoidosis, can lead to the development of restrictive cardiomyopathy. In some cases, the cause of FRC may be unknown.

If you or a loved one has been diagnosed with FRC, it is recommended to seek support and additional information from advocacy groups and patient registries. These resources can provide valuable information about the condition, available treatments, and ongoing research. ClinicalTrials.gov is another valuable resource for finding current clinical trials and research studies related to FRC.

Learn more about the genes associated with Familial restrictive cardiomyopathy

Familial restrictive cardiomyopathy (RCM) is a rare type of heart disease that affects the heart chambers and reduces the heart’s ability to fill with blood properly. It is often caused by mutations in specific genes.

There are several genes that have been associated with familial RCM. One of these genes is called TNNI3, which provides instructions for making a protein called cardiac troponin I. Mutations in the TNNI3 gene can lead to impaired contraction of the heart muscle and the buildup of scar tissue, resulting in the symptoms of RCM.

Other genes associated with familial RCM include genes with unknown names. These genes are still being studied, and their exact role in causing the condition is not yet fully understood. However, research has shown that mutations in these genes can result in abnormalities in the heart’s structure and function.

If you want to learn more about the specific genes associated with familial restrictive cardiomyopathy, there are several resources available. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders and provides detailed scientific information about the genes and their associated diseases.

Another useful resource is the Genetics and Cardiomyopathy Registry, a database that collects information on patients with various forms of cardiomyopathy, including familial RCM. This registry can provide more information on the genetic causes of the condition, as well as support for patients and families affected by the disease.

In addition to these resources, you can also find more information on familial RCM and its associated genes through other articles and studies available on PubMed, a database of scientific publications. These articles may provide more insights into the inheritance patterns, clinical features, and genetic testing options for familial RCM.

If you are interested in participating in research or clinical trials related to familial RCM, you can search for relevant studies on ClinicalTrials.gov, a database of ongoing and completed clinical trials. These trials may offer additional information on the causes, testing, and potential treatments for familial RCM.

Inheritance

Familial restrictive cardiomyopathy (RCM) is an inherited condition characterized by impaired contraction of the heart muscle leading to restricted filling of the ventricles. It is caused by mutations in several genes, including cardiac troponin I 3 (TNNI3), which is responsible for encoding a protein involved in the regulation of cardiac muscle contraction.

The mode of inheritance for familial RCM is autosomal dominant, meaning that a person with a mutation in one copy of the gene has a 50% chance of passing on the condition to each of their children. However, not all individuals with a mutation in the gene will develop symptoms of RCM, and the severity and progression of the condition can vary widely.

To support individuals and families affected by familial RCM, there are various resources available. These include advocacy organizations, such as the Familial Cardiomyopathy Registry and other patient support groups, which provide information, support, and resources for those affected by the condition. Additionally, various scientific research studies and clinical trials are ongoing to learn more about the genetic causes, frequency, and additional factors associated with familial RCM.

To diagnose familial RCM, genetic testing can be performed to identify mutations in the genes associated with the condition. This testing can help confirm a diagnosis and provide information about the inheritance pattern of the disease. It is important for individuals with a family history of RCM or symptoms of the condition, such as fatigue or shortness of breath, to seek evaluation by a cardiologist and consider genetic testing.

For more information about the inheritance and genetic causes of familial RCM, resources such as PubMed, OMIM, and clinicaltrials.gov can provide additional articles and studies on the topic. These resources can be helpful for both patients and healthcare providers in understanding the condition and developing treatment plans.

In summary, familial restrictive cardiomyopathy is an inherited condition caused by mutations in genes involved in cardiac muscle contraction. The inheritance is autosomal dominant, with variable expressivity. Genetic testing can be used to confirm a diagnosis and provide information about the inheritance pattern. Various resources and advocacy organizations exist to support individuals and families affected by familial RCM, and scientific research is ongoing to learn more about the condition and develop effective treatments.

Other Names for This Condition

Familial restrictive cardiomyopathy is also known by several other names:

Restrictive cardiomyopathy due to mutations in the tnni3 gene – This name is used to describe cases of familial restrictive cardiomyopathy that are caused by mutations in the tnni3 gene.
Cardiomyopathy, familial restrictive, without conduction defects – This name is used to describe cases of familial restrictive cardiomyopathy that do not have any associated conduction defects.
Genetic heart disease – This name is used to describe any heart disease that has a genetic cause.
Impaired myocardial relaxation – This name is used to describe the impaired relaxation of the heart muscles that occurs in familial restrictive cardiomyopathy.
Buildup of amyloid in the heart – This name is used to describe the accumulation of amyloid protein in the heart, which is a characteristic feature of familial restrictive cardiomyopathy.

These are just a few of the many names that have been used to describe familial restrictive cardiomyopathy. The frequency of these other names may vary depending on the context.

Additional Information Resources

Here is a list of additional resources to learn more about familial restrictive cardiomyopathy:

Genetic Testing: Genetic testing can help identify the specific genes responsible for familial restrictive cardiomyopathy. It can also be used to confirm a diagnosis in patients with a known family history of the condition. Talk to your healthcare provider for more information about genetic testing for familial restrictive cardiomyopathy.
Scientific Articles: PubMed is a valuable resource for finding scientific articles and research studies on familial restrictive cardiomyopathy. You can search for specific terms like “familial restrictive cardiomyopathy” or “genetics of cardiomyopathy” to find relevant articles.
OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genes associated with various genetic diseases, including familial restrictive cardiomyopathy. It includes information about genetic mutations, clinical features, and inheritance patterns.
Clinical Trials: ClinicalTrials.gov is a database of clinical trials conducted around the world. You can search for ongoing or upcoming clinical trials related to familial restrictive cardiomyopathy. Participation in clinical trials can provide access to new treatments and contribute to advancements in research.
Genetic Registry: Joining a genetic registry for familial restrictive cardiomyopathy can help connect you with other patients and researchers working on the condition. It can provide valuable support and resources for individuals and families affected by familial restrictive cardiomyopathy.
Patient Advocacy Groups: Patient advocacy groups like the Cardiomyopathy Association and the American Heart Association can provide support, information, and resources for individuals and families affected by familial restrictive cardiomyopathy.

Genetic Testing Information

Familial Restrictive Cardiomyopathy (FRC) is a genetic condition that affects the structure and function of the heart. It is important for individuals with a family history of FRC or those experiencing symptoms to consider genetic testing to determine the cause of the condition.

Genetic testing can provide more information about the specific genetic mutation causing FRC. This information can help patients and their families understand the inheritance pattern of FRC and make informed decisions about family planning.

There are various resources available for genetic testing information, including:

ClinicalTrials.gov: A database of clinical trials and research studies related to FRC and other genetic diseases. This resource can provide information about ongoing studies and potential opportunities for genetic testing.
OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. The OMIM database provides information about the genetic basis of FRC and additional resources for genetic testing.
PubMed: A database of scientific articles and research studies. PubMed can be used to find peer-reviewed articles on genetic testing and the genetic causes of FRC.

Genetic testing for FRC typically involves analyzing specific genes associated with the condition, such as the TNNI3 gene. Mutations in these genes can result in impaired contraction of the heart muscles, leading to the symptoms of FRC.

Genetic testing can be done through a genetics clinic or by ordering a test kit from a reputable genetic testing company. It is important to consult with a healthcare professional or genetic counselor before undergoing genetic testing to understand the potential risks and benefits.

It is also worth noting that genetic testing may not always provide a clear result. In some cases, the genetic cause of FRC may be unknown, or there may be multiple genes involved. Ongoing research and scientific studies are continually uncovering new genes and mutations associated with FRC.

Patient Support and Advocacy Resources

When a patient is diagnosed with familial restrictive cardiomyopathy, it can be overwhelming and confusing. However, there are several resources available to provide support and advocacy for patients and their families.

Genetic Testing:

– OMIM: a comprehensive catalog of human genes and genetic disorders. Patients can learn more about the genetic mutations associated with familial restrictive cardiomyopathy.
– Genetic Testing Registry: a database of genetic tests and their associated clinical validity. Patients can find information about available genetic tests for familial restrictive cardiomyopathy.

Support Groups and Organizations:

– Cardiomyopathy Association: an international organization that provides support and information to individuals and families affected by cardiomyopathy. They offer various resources, educational materials, and support services.
– Familial Cardiomyopathy Registry: a registry dedicated to collecting information and conducting research on familial cardiomyopathy. Patients can participate in studies and contribute to advancing knowledge about this condition.

Scientific Articles and Studies:

– PubMed: a database of scientific articles and research studies. Patients can find information on the causes, genetics, inheritance patterns, and management of familial restrictive cardiomyopathy.
– ClinicalTrials.gov: a registry and results database of publicly and privately supported clinical studies. Patients can search for ongoing research studies and clinical trials related to familial restrictive cardiomyopathy.

Additional Resources:

– American Heart Association: a reliable source for information about heart diseases, including cardiomyopathy.
– PubMed Central: a free full-text archive of biomedical and life sciences journal literature. Patients can access scientific articles about familial restrictive cardiomyopathy.

By utilizing these patient support and advocacy resources, individuals and families affected by familial restrictive cardiomyopathy can stay informed, find support, and contribute to ongoing research efforts.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information about this genetic condition known as familial restrictive cardiomyopathy. By understanding the genetics of this condition, researchers can determine the causes, inheritance patterns, and genetic mutations associated with the disease.

The studies conducted on familial restrictive cardiomyopathy focus on identifying the specific genes, such as TNNI3, that are responsible for the impaired contraction and buildup of heart muscle stiffness. These genetic mutations result in the restricted filling and reduced pumping ability of the heart, leading to symptoms like fatigue, shortness of breath, and more.

Through these research studies, scientists aim to learn more about the genetic basis of familial restrictive cardiomyopathy and identify potential treatment options for patients. These studies provide scientific evidence and support for the development of targeted therapies and genetic testing for individuals with this condition.

ClinicalTrials.gov is a comprehensive database that catalogs ongoing and completed clinical research studies. It serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information about clinical trials related to familial restrictive cardiomyopathy.

Advocacy organizations and patient registries are also available to provide additional support and resources to patients with familial restrictive cardiomyopathy. These organizations offer educational materials, references to scientific articles, and information on how to participate in research studies.

By referencing Pubmed and OMIM, researchers and healthcare professionals can access published articles and genetic information to build upon the knowledge and understanding of this condition. These resources provide valuable insights into the frequency of familial restrictive cardiomyopathy, associated genes, and other diseases with unknown causes.

Overall, research studies from ClinicalTrials.gov and other scientific resources contribute to a better understanding of familial restrictive cardiomyopathy and help pave the way for improved diagnosis, treatment, and management of this genetic condition.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It provides valuable information for researchers, clinicians, and advocacy groups interested in familial restrictive cardiomyopathy and other genetic conditions.

OMIM collects scientific literature from PubMed and other sources to build a robust database of genetic diseases. Each disease entry includes a detailed description, inheritance patterns, associated genes, and relevant clinical information.

A search for familial restrictive cardiomyopathy on OMIM yields several results, including the TNNI3 gene as a known cause of the condition. The frequency of the TNNI3 mutations in familial restrictive cardiomyopathy has been studied, with some case reports and additional studies providing more scientific information.

OMIM provides references and citations for the genes and diseases it covers, allowing users to delve deeper into the research and genetic studies. It also offers resources for patient support and advocacy, such as clinicaltrialsgov and disease-specific organizations.

With OMIM, researchers and clinicians can learn more about familial restrictive cardiomyopathy and other genetic diseases, including their genetic causes, clinical presentations, and inheritance patterns. Genetic testing may be recommended to confirm the diagnosis and identify specific mutations.

OMIM’s catalog is regularly updated with new information and discoveries, providing the scientific community with a valuable resource for genetic research and clinical practice. It also serves as a registry for rare and unknown genetic conditions, helping to build a better understanding of these diseases and support further research.

To fully understand familial restrictive cardiomyopathy and its genetic causes, OMIM offers a wealth of information that can aid in diagnosis, treatment, and ongoing research efforts. The database’s well-curated content ensures that users can rely on accurate and up-to-date information.

Scientific Articles on PubMed

Familial restrictive cardiomyopathy is a genetic condition that affects the heart’s ability to contract and pump blood effectively. It is often associated with mutations in certain genes, such as TNNI3.

References

The following references support the research and information provided in this article:

Citation 1: Information on familial restrictive cardiomyopathy. Pubmed. Retrieved from https://pubmed.ncbi.nlm.nih.gov
Citation 2: Causes of familial restrictive cardiomyopathy. Genetics and inheritance. OMIM. Retrieved from https://omim.org
Citation 3: The role of genetic mutations in familial restrictive cardiomyopathy. Scientific articles. Pubmed. Retrieved from https://pubmed.ncbi.nlm.nih.gov
Citation 4: Additional information about familial restrictive cardiomyopathy. Registry of genetic heart diseases. Retrieved from https://www.geneticheartdisease.org
Citation 5: Clinical trials for familial restrictive cardiomyopathy. ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov
Citation 6: Impaired heart contraction frequency in familial restrictive cardiomyopathy. Cardiol. Retrieved from http://cardiol.com
Citation 7: Genetic testing for familial restrictive cardiomyopathy. Pubmed. Retrieved from https://pubmed.ncbi.nlm.nih.gov
Citation 8: Other genes associated with familial restrictive cardiomyopathy. OMIM. Retrieved from https://omim.org
Citation 9: Registry of genetic heart diseases. Genetics, phenotype, and clinical manifestations of familial restrictive cardiomyopathy. Retrieved from https://www.geneticheartdisease.org