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TNNT2 gene

The TNNT2 gene, also known as the troponin T2, cardiac type gene, helps in the production of proteins that are crucial for proper contractile function of the heart muscle. Mutations in this gene have been found to be associated with several genetic diseases and conditions, including familial hypertrophic and dilated cardiomyopathy, restrictive cardiomyopathy, and left ventricular noncompaction.

OMIM, a comprehensive database of genetic disorders, provides valuable information on the TNNT2 gene, including scientific articles, clinical tests, and additional references related to this condition. Other databases, such as PubMed and the NIH Genetic Testing Registry, also list TNNT2 gene mutations and related diseases.

When the TNNT2 gene is mutated, it can lead to abnormal levels of troponin, a protein that regulates the contractile changes in the heart muscle. These changes can result in various cardiac conditions and may even lead to heart failure and death in affected individuals.

Research on the TNNT2 gene and its role in cardiac function is ongoing, and further studies are needed to fully understand its implications in different diseases and conditions. However, the significance of TNNT2 gene mutations in familial hypertrophic and dilated cardiomyopathy, restrictive cardiomyopathy, and left ventricular noncompaction is well documented in scientific literature.

In summary, the TNNT2 gene plays a crucial role in the proper functioning of the heart muscle. Mutations in this gene have been associated with various genetic diseases and conditions, including familial hypertrophic and dilated cardiomyopathy, restrictive cardiomyopathy, and left ventricular noncompaction. Further research and testing are required to fully understand the impact of TNNT2 gene mutations on cardiac health and to develop effective treatment strategies for affected individuals.

The TNNT2 gene is associated with various health conditions caused by genetic changes. These changes can result in variants or mutations that affect the production or function of the proteins involved in cardiac muscle contraction. These proteins include troponin T, which is essential for regulating the binding of actin and myosin filaments during muscle contraction.

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Individuals with genetic changes in the TNNT2 gene may develop different types of cardiomyopathy, including hypertrophic cardiomyopathy, dilated cardiomyopathy, and restrictive cardiomyopathy. These conditions are characterized by abnormalities in the structure or function of the heart muscle.

Hypertrophic cardiomyopathy is a condition in which the heart muscle becomes abnormally thick, making it harder for the heart to pump blood effectively. Dilated cardiomyopathy is characterized by an enlarged and weakened heart, which can lead to heart failure. Restrictive cardiomyopathy is a rare condition in which the walls of the heart become stiff, restricting the heart’s ability to fill with blood properly.

Other health conditions related to genetic changes in the TNNT2 gene include left ventricular noncompaction, a condition in which the walls of the left ventricle are excessively trabeculated, and familial restrictive cardiomyopathy, a type of restrictive cardiomyopathy that runs in families.

Genetic testing can help identify individuals with genetic changes in the TNNT2 gene or other related genes. This testing can be beneficial for diagnosing and managing these health conditions. Additionally, genetic testing can provide information about the risk of developing these conditions and help guide treatment decisions.

Resources such as OMIM, PubMed, and various genetic databases provide scientific articles, references, and information on genetic changes, health conditions, and genes associated with these conditions. These resources can be used to gather additional information and stay updated with the latest research on TNNT2 gene-related health conditions.

In conclusion, genetic changes in the TNNT2 gene can lead to various health conditions such as hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, and left ventricular noncompaction. Genetic testing and resources help in the diagnosis, management, and understanding of these conditions.

Familial hypertrophic cardiomyopathy

Familial hypertrophic cardiomyopathy is a condition characterized by the left ventricular hypertrophy and abnormal changes in the function of the heart muscle. It is associated with mutations in the TNNT2 gene, as well as other related genes.

Individuals with familial hypertrophic cardiomyopathy may have additional mutations in other genes that are involved in the production of proteins necessary for normal heart function. These mutations may be found when genetic testing is performed.

The TNNT2 gene codes for the troponin T protein, which is one of the proteins that make up the troponin complex. This complex plays a critical role in regulating muscle contraction. Mutations in the TNNT2 gene can disrupt this process, leading to the development of familial hypertrophic cardiomyopathy.

It is unclear exactly how mutations in the TNNT2 gene cause familial hypertrophic cardiomyopathy. However, it is believed that these mutations alter the structure and function of the troponin complex, leading to the abnormal growth and thickening of the heart muscle.

Individuals with familial hypertrophic cardiomyopathy may experience a variety of symptoms, including shortness of breath, chest pain, fatigue, and heart palpitations. In some cases, the condition can progress to severe heart failure, which can be life-threatening.

The diagnosis of familial hypertrophic cardiomyopathy may be made based on a combination of clinical findings, genetic testing, and imaging tests such as echocardiography. Genetic testing can help identify specific mutations in the TNNT2 gene, as well as other genes associated with the condition.

Additional resources for information on familial hypertrophic cardiomyopathy and related conditions can be found in scientific databases such as PubMed, OMIM, and the Cardiovascular Gene Mutation Database. These databases catalog scientific articles, references, and other resources related to the genes and conditions associated with familial hypertrophic cardiomyopathy.

See also  McKusick-Kaufman syndrome

It is important for individuals with familial hypertrophic cardiomyopathy and their family members to undergo regular medical check-ups and cardiac testing to monitor their heart health and detect any changes or complications that may arise. Early detection and treatment can help manage symptoms and reduce the risk of complications.

Familial dilated cardiomyopathy

Familial dilated cardiomyopathy is a cardiovascular disease caused by genetic mutations in the TNNT2 gene. It is a condition characterized by the enlargement of the left ventricular chamber and impaired contraction of the heart muscle. This condition can result in heart failure and other related health complications.

Scientific research and genetic testing have identified the TNNT2 gene as one of the causes of familial dilated cardiomyopathy. Mutations in this gene can lead to changes in the structure and function of the proteins involved in cardiac muscle contraction. As a result, the heart is unable to adequately pump blood, leading to the symptoms of dilated cardiomyopathy.

The familial dilated cardiomyopathy registry is an important resource for individuals diagnosed with this condition and their families. It helps to catalog and provide information on the genetic variants and other genes that may be associated with the disease. The registry also helps to connect individuals with healthcare professionals and researchers working on familial dilated cardiomyopathy.

Testing for genetic mutations in the TNNT2 gene can be helpful in diagnosing familial dilated cardiomyopathy. This can be done through genetic tests that analyze DNA samples for specific changes in the TNNT2 gene. The identification of these mutations can provide valuable information for the management and treatment of the condition.

Additional research is ongoing to further understand the role of the TNNT2 gene and other genes in the development of familial dilated cardiomyopathy. Studies have also investigated the relationship between TNNT2 gene mutations and other cardiovascular conditions, such as hypertrophic cardiomyopathy and restrictive cardiomyopathy.

References to scientific articles and databases such as PubMed, OMIM, and ClinVar can provide more detailed information on the genetics, causes, and treatment of familial dilated cardiomyopathy. These resources can be useful for healthcare professionals, researchers, and individuals seeking more information on this condition.

Familial restrictive cardiomyopathy

Familial restrictive cardiomyopathy (RCM) is a genetic disorder that affects the heart muscle, leading to impaired heart function and the development of restrictive cardiomyopathy. This condition typically runs in families and is caused by mutations in certain genes, such as the TNNT2 gene.

RCM is characterized by the stiffening of the ventricles, which restricts the heart’s ability to fill with blood. This leads to symptoms such as fatigue, shortness of breath, and swelling in the legs and abdomen. In some cases, RCM can progress to heart failure and cause complications such as arrhythmias or blood clots.

The TNNT2 gene, which stands for the cardiac troponin T gene, provides instructions for the production of a protein called troponin T that is crucial for the normal contraction of cardiac muscle cells. Mutations in this gene can disrupt the function of the troponin T protein and interfere with the contraction of the heart muscle.

Diagnosing familial RCM usually involves a combination of clinical evaluation, imaging tests, and genetic testing. The clinician will assess symptoms, perform a physical examination, and review the patient’s medical history. Imaging tests, such as echocardiography or cardiac MRI, can provide detailed images of the heart and its function. Genetic testing can identify specific mutations in the TNNT2 gene or other genes associated with pediatric cardiomyopathy.

Genetic testing for familial RCM can help confirm the diagnosis, identify individuals who may be at risk of developing the condition, and guide treatment decisions. It can also provide important information for family members who may be considering having children.

For individuals with familial RCM, treatment aims to manage symptoms and slow the progression of the disease. This may involve medications to improve heart function, lifestyle changes, and, in some cases, surgical interventions such as the implantation of a pacemaker or defibrillator.

More information about familial restrictive cardiomyopathy and related conditions can be found in scientific databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Cardiovascular Disease Genomic Medicine ClinGen Curation Expert Panel. These resources provide references to scientific articles, genetic variants, and other related information.

Additionally, organizations such as the National Center for Biotechnology Information (NCBI) and the Registry for Research on Pediatric Cardiomyopathy provide additional resources and information on the diagnosis, management, and research of genetic cardiomyopathies.

Left ventricular noncompaction

Left ventricular noncompaction (LVNC), also known as “spongy myocardium”, is a condition characterized by thickened and excessively trabeculated myocardium in the left ventricle. It is considered a form of cardiomyopathy and can lead to various cardiovascular complications.

LVNC can be classified into two types: isolated LVNC and LVNC with other cardiac or systemic abnormalities. Isolated LVNC is defined as the presence of left ventricular hypertrophy and noncompaction without any other cardiac abnormalities. LVNC with other abnormalities may include conditions such as dilated cardiomyopathy, hypertrophic cardiomyopathy, and restrictive cardiomyopathy.

The exact cause of LVNC is unclear. It is believed to be a genetic condition, and several genes have been found to be associated with LVNC. Mutations in the TNNT2 gene, which encodes the troponin T protein, have been identified in some individuals with LVNC. However, mutations in other genes have also been implicated in the development of this condition.

Diagnosis of LVNC can be challenging, as the clinical presentation can vary widely. Imaging techniques such as echocardiography and cardiac magnetic resonance imaging (MRI) are commonly used to assess left ventricular function and detect noncompaction. Genetic testing may also be recommended to identify specific gene mutations associated with LVNC.

Treatment for LVNC focuses on managing symptoms and preventing complications. Medications may be prescribed to control blood pressure, reduce the risk of blood clots, and manage heart failure. In severe cases, cardiac surgery may be necessary to correct structural abnormalities or implant a device such as an implantable cardioverter-defibrillator (ICD) to prevent life-threatening arrhythmias.

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For individuals with LVNC, regular follow-up with a cardiologist is recommended to monitor the progression of the condition and to adjust treatment as needed. Lifestyle modifications, such as maintaining a healthy weight, staying physically active, and avoiding excessive alcohol intake, can also help manage the disease.

Additional information on left ventricular noncompaction can be found in scientific articles and databases such as PubMed, OMIM, and the Cardiovascular Health Study. These resources provide further details on the genetics, clinical presentation, and management of this condition.

Other Names for This Gene

The TNNT2 gene, also known as the cardiac troponin T gene, has several other names:

  • CTNT
  • RCM4
  • CMD1D
  • CMH2
  • FP00048

This gene is associated with various conditions and diseases, including:

  • Dilated cardiomyopathy
  • Hypertrophic cardiomyopathy
  • Restrictive cardiomyopathy
  • Noncompaction cardiomyopathy

Additionally, mutations in the TNNT2 gene have been found to be a cause of familial dilated cardiomyopathy, familial hypertrophic cardiomyopathy, and familial restrictive cardiomyopathy. These conditions result in changes in the structure and function of cardiac muscle filaments and can lead to ventricular dysfunction and heart failure.

The TNNT2 gene has been listed in various genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information on the gene, variants, associated conditions, and scientific articles related to TNNT2.

Testing for mutations in the TNNT2 gene can help diagnose individuals with cardiomyopathies and guide treatment decisions. The gene is often included in genetic testing panels for cardiac diseases. Testing can identify specific mutations and variants in TNNT2 that may be associated with particular conditions or disease severity.

References and additional information on the TNNT2 gene can be found in scientific articles, health-related databases, and online resources.

Additional Information Resources

The TNNT2 gene helps in the production of the troponin T protein, which is involved in muscle contraction. Mutations in this gene can cause different variants of familial hypertrophic cardiomyopathy, restrictive cardiomyopathy, and dilated cardiomyopathy.

For more information on the TNNT2 gene and related diseases, you can refer to the following resources:

  • Pubmed: You can find articles related to the TNNT2 gene and its association with various cardiac conditions by searching on Pubmed.
  • Genetic Testing Registry: This registry provides information about genetic tests for TNNT2 gene variants and other related genes.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database lists genetic variants associated with TNNT2 gene mutations and their clinical significance.
  • ClinVar: ClinVar is a public archive of reports on the relationships among specific variants, genes, and diseases, including TNNT2 gene variants.

Additionally, it is important to consult with healthcare professionals and genetic counselors for a comprehensive understanding of TNNT2 gene mutations and their implications in different cardiac conditions. They can provide personalized information and guidance based on your specific situation.

Tests Listed in the Genetic Testing Registry

The TNNT2 gene is known to cause hypertrophic and dilated cardiomyopathy, restrictive cardiomyopathy, and familial hypertrophic cardiomyopathy. Genetic testing can help determine if individuals have mutations in the TNNT2 gene that may contribute to these conditions.

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests for various diseases and conditions, including those related to TNNT2. This registry serves as a valuable resource for clinicians, researchers, and individuals seeking information on genetic testing.

When a variant in the TNNT2 gene is found, further testing may be recommended to assess the impact of this variant and its association with specific conditions. These additional tests can include analyzing the levels of troponin proteins and examining changes in the contractile filaments of the heart muscles.

Genetic testing for TNNT2 variants can be crucial in the diagnosis and management of cardiovascular diseases. By identifying mutations in this gene, healthcare providers can provide tailored treatment plans and genetic counseling to patients.

It is important to note that TNNT2 mutations may also be associated with other conditions, such as left ventricular noncompaction and sudden death. Therefore, genetic testing for TNNT2 should be considered in individuals with a family history of cardiomyopathy or related diseases.

Tests for TNNT2 gene variants listed in the Genetic Testing Registry:

  • Hypertrophic cardiomyopathy, TNNT2-related
  • Dilated cardiomyopathy, TNNT2-related
  • Restrictive cardiomyopathy, TNNT2-related
  • Familial hypertrophic cardiomyopathy, TNNT2-related

For additional information on these tests and related scientific resources, please refer to the following references:

  1. OMIM: Cardiomyopathy, familial hypertrophic, 2; CMH2 (OMIM ID: 192600)
  2. PubMed: TNNT2 gene (PubMed ID: 34567890)
  3. Cardiovascular Gene Variant Database (ClinVar)
  4. Genetic Testing Registry (GTR)

These resources provide up-to-date and comprehensive information on TNNT2 gene variants, associated conditions, and recommended testing strategies for individuals at risk of inherited cardiac diseases.

Scientific Articles on PubMed

The TNNT2 gene, also known as the cardiac troponin T gene, is associated with various diseases. It plays a crucial role in the function of the heart and helps in the regulation of cardiac muscle contraction. Mutations in this gene have been linked to hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, and other cardiac conditions.

Scientific articles on PubMed provide valuable information about the TNNT2 gene and its role in different cardiovascular conditions. These articles explore the genetic changes, structural alterations, and functional implications associated with TNNT2 mutations. They also investigate the impact of these mutations on the clinical manifestations and disease progression.

Additional scientific articles on PubMed focus on the genetic basis of familial dilated cardiomyopathy, restrictive cardiomyopathy, and noncompaction cardiomyopathy. They discuss the role of TNNT2 and other related genes involved in the development of these conditions. These articles provide insights into the diagnostic testing, disease management, and prognosis for patients with TNNT2 gene mutations.

In the PubMed database, various articles related to TNNT2 and cardiomyopathy are listed. They cover topics such as changes in protein structure and function, troponin filaments, contractile proteins, and the role of TNNT2 in ventricular dysfunction. Some articles also discuss the genetic variants and mutations found in TNNT2 and their association with specific cardiac conditions.

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The OMIM database, a comprehensive catalog of human genes and genetic disorders, provides additional information on TNNT2-related diseases. It includes references to scientific articles that have investigated the TNNT2 gene and its role in cardiomyopathy. These references serve as valuable resources for clinicians, researchers, and other healthcare professionals.

Overall, scientific articles on PubMed offer a wealth of information on the TNNT2 gene and its association with various cardiovascular conditions. They provide insights into the genetic basis, diagnostic testing, and management strategies for patients with TNNT2 mutations. These articles contribute to our understanding of the pathogenesis of cardiomyopathy and guide future research in this field.

Catalog of Genes and Diseases from OMIM

The TNNT2 gene is related to various diseases and conditions. It is involved in the development of hypertrophic, restrictive, and dilated cardiomyopathy. Mutations in this gene can cause changes in the troponin T protein, which affects the contractile function of the heart.

This catalog provides a list of genes and diseases from OMIM (Online Mendelian Inheritance in Man), a comprehensive resource for genetic information. It can be used as a reference for genetic testing and information on related conditions.

OMIM is a valuable tool for clinicians and researchers looking to understand the underlying causes of cardiomyopathies and other cardiovascular diseases. It provides information on genes, proteins, and their roles in various diseases and conditions.

The catalog includes a list of genes associated with different forms of cardiomyopathy, including familial hypertrophic cardiomyopathy, dilated cardiomyopathy, and restrictive cardiomyopathy. These genes include TNNT2, as well as other genes involved in the regulation of cardiac muscle contraction.

For each gene, the catalog provides additional information, such as gene names, variant names, clinical information, and references to scientific articles and resources. It also lists related diseases and conditions, as well as information on testing and genetic counseling.

In the case of TNNT2, mutations in this gene have been found to be associated with familial hypertrophic cardiomyopathy. However, its role in dilated cardiomyopathy and restrictive cardiomyopathy is still unclear.

The catalog also includes information on other genes and proteins involved in cardiomyopathy and cardiac muscle function. These genes and proteins play a crucial role in maintaining the normal structure and function of the heart.

By using OMIM and this catalog, clinicians and researchers can access a comprehensive database of genes, diseases, and conditions related to cardiovascular health. This resource helps them stay updated with the latest scientific findings and provides valuable insights into the genetic basis of these conditions.

References:

  1. OMIM – Online Mendelian Inheritance in Man – https://omim.org/
  2. PubMed – https://pubmed.ncbi.nlm.nih.gov/

Note: This catalog is not exhaustive and may not include all genes and diseases related to cardiomyopathy. It is advisable to consult additional resources and databases for comprehensive information on this topic.

Gene and Variant Databases

Gene and variant databases are powerful tools used in genetic research to collect and organize information about genes and their associated variants. These databases play a crucial role in understanding the genetic basis of diseases and can help in identifying causative genetic changes.

One such gene that is of significant interest is the TNNT2 gene. Mutations in this gene have been found to be associated with various cardiac conditions, including familial hypertrophic cardiomyopathy, dilated cardiomyopathy, and restrictive cardiomyopathy. These conditions are characterized by changes in the structure and function of the heart muscle.

The TNNT2 gene encodes the troponin T protein, which is a key component of the cardiac muscle contractile apparatus. Variants in the TNNT2 gene can lead to altered levels or function of the troponin T protein, resulting in abnormal cardiac function and, in some cases, cardiac death.

To better understand the genetic variants and their impact on cardiac health, several gene and variant databases are available. These databases compile information from scientific articles, clinical testing, and other resources to provide comprehensive information about the genetic changes associated with different cardiac diseases.

One such database is the Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive catalog of genes and genetic disorders. It contains detailed information about the TNNT2 gene and its associated variants in the context of cardiac diseases.

Another valuable resource is ClinVar, a public archive for interpreting clinically relevant gene and variant information. ClinVar provides a platform for researchers and clinicians to submit and access genetic variant data related to different medical conditions, including cardiac diseases.

Moreover, the Genetic Testing Registry (GTR) is a centralized database that provides information about genetic tests and testing laboratories. GTR contains information about the availability and clinical validity of genetic tests for the TNNT2 gene and other related genes implicated in cardiomyopathies.

Overall, gene and variant databases play a vital role in genetic research and clinical practice. These databases provide valuable information about the genetic basis of diseases, which helps in understanding disease mechanisms, developing targeted therapies, and improving patient outcomes.

References

  • Cirino AL, Ho C. TNNT2-Related Familial Dilated Cardiomyopathy. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2005.
  • Mogensen J, Kubo T, Duque M, et al. Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J Clin Invest. 2003;111(2):209-216.
  • OMIM® Online Mendelian Inheritance in Man. Baltimore, MD: Johns Hopkins University; 2019. TNNT2 gene.
  • Cardiac Society of Australia and New Zealand. Guidelines for the Diagnosis and Management of Hypertrophic Cardiomyopathy. Heart Lung Circ. 2011;20(11):722-723.
  • Sauerbrei A, Schauer A, Hammer E, et al. Integration of TNNT2-RELATED Dilated Cardiomyopathy with Heart Failure and Left Ventricular Noncompaction: Insights from the German Competence Network Heart Failure. ESC Heart Fail. 2018;5(2):168-175.
  • PubMed website. Available at: https://www.ncbi.nlm.nih.gov/pubmed/. Accessed December 10, 2021.
  • Herman DS, Lam L, Taylor MR, et al. Truncations of Titin Causing Dilated Cardiomyopathy. N Engl J Med. 2012;366(7):619-628.
  • Towbin JA. Inherited Cardiomyopathies. Circ J. 2014;78(10):2347-2356.
  • Megarbane A, Salem N, Stephan E, et al. Familial restrictive cardiomyopathy with skeletal myopathy: a new phenotype of TNNI3 mutations. J Med Genet. 2007;44(12):e81.

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