Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited genetic condition that affects the heartbeat. It is also called catecholaminergic and polymorphic ventricular tachycardia. CPVT is recognized as a leading cause of sudden death in young individuals, and it is characterized by episodes of an abnormally fast and irregular heartbeat, or ventricular tachycardia.
CPVT is caused by mutations in specific genes within heart muscle cells called myocytes. These mutations affect the contraction of the heart muscle and disrupt the normal electrical signals that regulate the heartbeat. The condition typically presents with no structural abnormalities in the heart. CPVT can be inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to each of their children.
The frequency of CPVT is estimated to be around 1 in every 10,000 individuals. It is often diagnosed in childhood or adolescence, but can also be recognized in adulthood. Genetic testing can confirm the diagnosis of CPVT by identifying mutations in genes associated with the condition. Additional testing, such as exercise stress tests, electrocardiograms (ECGs), and echocardiograms, may also be used to evaluate the heart’s function and assess the risk of arrhythmias.
There is currently no cure for CPVT, but treatment options are available to manage the condition and reduce the risk of arrhythmias. Medications such as beta blockers and calcium channel blockers can help control the heart’s rhythm and prevent episodes of ventricular tachycardia. Implantable cardioverter-defibrillators (ICDs) may also be recommended for individuals at high risk of sudden cardiac death.
Clinical trials are ongoing to investigate new treatments and therapies for CPVT. These studies aim to improve our understanding of the condition and develop more effective interventions. To learn more about ongoing clinical trials for CPVT, visit the clinicaltrials.gov website and search for “catecholaminergic polymorphic ventricular tachycardia”.
For additional information and support, individuals and families affected by CPVT can turn to advocacy organizations, such as the Catecholaminergic Polymorphic Ventricular Tachycardia International Registry (CATIVA), which provides resources, educational materials, and a support network for those affected by the condition. Scientific articles, studies, and genetic databases such as PubMed, OMIM, and the European Society of Cardiology (ESC) are also valuable sources of information and references for further reading on CPVT.
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Frequency
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare genetic condition that affects the heartbeat. It is caused by mutations in certain genes that are involved in the contraction of cardiac myocytes. CPVT is inherited in an autosomal dominant manner, which means that a mutation in one copy of the gene is sufficient to cause the condition.
The exact frequency of CPVT is not well-defined, but it is estimated to occur in approximately 1 in 10,000 to 1 in 20,000 individuals. However, this may vary depending on the population studied and the diagnostic criteria used. CPVT can affect individuals of any age, but it is most commonly diagnosed in childhood or adolescence.
CPVT is typically associated with exercise or emotional stress, which can trigger episodes of ventricular tachycardia. These episodes can be life-threatening and may result in fainting, seizures, or sudden cardiac death. Therefore, it is important for individuals with CPVT to receive appropriate medical care and monitoring.
Genetic testing is available to confirm a diagnosis of CPVT and to identify the specific genes involved. Mutations in the CASQ2 and RYR2 genes are the most commonly recognized causes of CPVT. However, mutations in other genes, such as CALM1 and TRDN, have also been associated with the condition.
Research studies and clinical trials are ongoing to learn more about the frequency and causes of CPVT. The Catecholaminergic Polymorphic Ventricular Tachycardia Genetic Registry, sponsored by the University of Utrecht Medical Center, collects information from patients with CPVT to support scientific research and provide resources for patients and healthcare providers.
Additional resources about CPVT can be found on the websites of advocacy organizations, such as the SADS Foundation and the Genetic and Rare Diseases Information Center. Scientific articles and references about CPVT are also available through databases like PubMed and OMIM.
Causes
Ventricular tachycardia (VT) is a genetic condition characterized by abnormal heart rhythms originating from the ventricles. It is caused by mutations in certain genes that affect the normal function of cardiac myocytes.
One of the genes associated with catecholaminergic polymorphic ventricular tachycardia (CPVT) is called CASQ2. Mutations in this gene lead to impaired calcium handling within the myocytes and can result in life-threatening arrhythmias.
CPVT has an autosomal dominant inheritance pattern, which means that an affected individual has a 50% chance of passing the mutated gene on to each of their children. It is considered a rare condition, with a prevalence of about 1 in 10,000 individuals.
Additional genes, such as RYR2, TRDN, CALM1, and CALM2, have also been associated with CPVT. Mutations in these genes can disrupt the normal regulation of calcium in the heart, leading to abnormal contractions and potentially fatal arrhythmias.
Genetic testing is available for CPVT and can help confirm a diagnosis in individuals with suspected or confirmed cases of the condition. Testing can also be useful for identifying at-risk family members and guiding management strategies.
Catalogs such as OMIM and Europace provide comprehensive information about the known genes associated with CPVT, along with the specific mutations and their clinical significance.
Research studies and clinical trials listed on PubMed and ClinicalTrials.gov provide further scientific information on the genetics and prevalence of CPVT, as well as potential treatments and advancements in the field.
Although genetic factors play a significant role in CPVT, it is essential to note that other factors, such as stress, exercise, and emotional triggers, can also contribute to the manifestation of symptoms. Proper management of the condition involves a combination of lifestyle modifications, medication, and regular monitoring by a healthcare professional.
Support and advocacy groups, such as Catecholaminergic Polymorphic Ventricular Tachycardia Foundation, provide additional resources and support for individuals and families affected by CPVT.
For more information about the causes of CPVT and available resources, please refer to the references listed below.
Learn more about the genes associated with Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited heart rhythm disorder that can cause life-threatening arrhythmias and sudden cardiac death in young patients. It is characterized by an abnormal heartbeat, specifically ventricular tachycardia, triggered by physical activity or emotional stress.
CPVT is primarily caused by genetic mutations in certain genes that regulate the contraction of heart muscle cells (myocytes). These genes include:
- Ryanodine receptor 2 (RYR2)
- Calsequestrin 2 (CASQ2)
- Ankyrin-B (ANK2)
- Calmodulin (CALM1)
RYR2 is the most common gene associated with CPVT and is responsible for approximately 50-60% of cases. Mutations in other genes like CASQ2, ANK2, and CALM1 are less common but can also cause the condition.
In order to determine the genetic cause of CPVT in a patient, genetic testing can be done. This involves analyzing the DNA of the patient for mutations in the genes associated with CPVT. Genetic testing can provide valuable information for diagnosis, prognosis, and treatment decision-making.
Additional resources for learning more about the genes associated with CPVT include:
- OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders
- PubMed – a database of scientific research articles on various topics, including CPVT and its associated genes
- ClinicalTrials.gov – a registry of clinical trials investigating CPVT and its genetic causes
- European Heart Rhythm Association (Europace) – a scientific journal publishing research on arrhythmias and cardiac electrophysiology
By accessing these resources, patients, healthcare professionals, and researchers can gather more information about the genetic causes of CPVT, stay updated on the latest research and clinical trials, and find support and advocacy groups for CPVT patients and their families.
Inheritance
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare genetic condition that affects the normal heartbeat. It is recognized as one of the known causes of sudden cardiac death in apparently healthy individuals, particularly in the young.
The inheritance of CPVT can occur in an autosomal dominant or autosomal recessive manner. Autosomal dominant inheritance means that a person has a 50% chance of inheriting the condition if one of their parents is affected. On the other hand, autosomal recessive inheritance means that both parents must be carriers of the genetic mutation for their child to be affected. In such cases, the child has a 25% chance of inheriting the condition.
CPVT is associated with mutations in several genes, including CASQ2 and RYR2. Mutations in these genes disrupt the normal functioning of cardiac myocytes, the cells responsible for the contraction of the heart. This disruption can lead to abnormal heart rhythms and potentially life-threatening ventricular tachycardia.
Genetic testing is available for CPVT and can help identify the specific gene mutation causing the condition. In some cases, however, no mutation may be found, suggesting that additional genes or factors may be involved in the development of CPVT.
Prevalence studies on CPVT are limited, but it is estimated to occur in approximately 1 in 10,000 to 1 in 20,000 individuals. It is more commonly recognized in Europe and North America, where more resources and research studies have been conducted.
As CPVT is a rare condition, patient advocacy and support resources are available to provide information and help patients and their families learn more about the condition. ClinicalTrials.gov and other research centers can provide information on ongoing clinical trials and studies related to CPVT.
For more information about CPVT, its causes, and available genetic testing, references and articles are available on websites such as OMIM, GENET, PubMed, and the WERF Catecholaminergic Polymorphic Ventricular Tachycardia Catalog.
Other Names for This Condition
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is also known by several other names:
- Catecholaminergic polymorphic tachycardia
- Casq2-associated CPVT
- CPVT1
These names are used interchangeably to refer to the same condition. CPVT is a rare genetic disorder characterized by abnormal heart rhythm and is usually triggered by physical activity or emotional stress. It is caused by mutations in genes involved in calcium regulation in cardiac myocytes, leading to abnormal contractions of the heart muscle.
More information about CPVT can be found on various resources, including:
- The European Heart Rhythm Association (EHRA) website
- Genetics Home Reference, a resource of the U.S. National Library of Medicine
- Online Mendelian Inheritance in Man (OMIM) catalog
- PubMed, a database of scientific research articles
For patients and families affected by CPVT, additional support, advocacy, and information about clinical trials and genetic testing options are available. It is important to learn more about CPVT and the associated genes to better understand the condition and future treatment options. Research studies are ongoing to further understand the inheritance patterns, prevalence, and causes of CPVT.
Recognized studies within the field of CPVT and related diseases are supported by organizations such as the Catecholaminergic Polymorphic Ventricular Tachycardia International Registry and the Werf Foundation.
Additional Information Resources
For more information on Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), the following resources may be helpful:
- Other associated names: CPVT, polymorphic ventricular tachycardia
- Genes and causes: CPVT is primarily caused by mutations in the CASQ2 and RYR2 genes.
- Prevalence: CPVT is a rare genetic condition, with an estimated prevalence of 1 in 10,000 to 1 in 20,000 individuals.
- ClinicalTrials.gov: You can search for clinical trials related to CPVT on ClinicalTrials.gov.
- Inherited heart diseases: CPVT is one of several inherited heart diseases with a risk of sudden death.
- CASQ2 testing: CASQ2 gene testing is available to confirm a diagnosis of CPVT in some cases.
- Research studies: Ongoing research studies are investigating the causes, clinical features, and treatment options for CPVT.
- Genetic tester: Genetic testing companies can provide information about CPVT and offer testing services.
- Genetics Future: The future of CPVT research involves understanding the genetic basis of the condition and developing targeted therapies.
For additional support and resources, you may find the following organizations and references helpful:
- Patient advocacy: There are patient advocacy groups that provide support and resources for individuals and families affected by CPVT.
- Catalog of Inherited Diseases: The Catalog of Inherited Diseases provides information about CPVT and other inherited heart conditions.
- OMIM: Online Mendelian Inheritance in Man (OMIM) provides a comprehensive database of genetic disorders, including CPVT.
- Center for Genes: The Center for Genes provides information, research, and resources related to genetics and inherited diseases.
- References and articles: There are numerous scientific articles and publications available that discuss CPVT and related topics.
For more information on CPVT, its causes, diagnosis, treatment, and support options, please visit the resources mentioned above.
Genetic Testing Information
Genetic testing plays a crucial role in the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). By analyzing specific genes associated with this condition, genetic testing can help identify the underlying cause and provide important information for treatment decisions and counseling.
Several genes have been found to be involved in CPVT, including the CASQ2 and RYR2 genes. Mutations in these genes can disrupt the function of the proteins they encode, leading to abnormal calcium handling in cardiac myocytes and triggering life-threatening ventricular tachycardia.
Studies have shown that CPVT has an autosomal dominant inheritance pattern, which means that a mutation in just one copy of the responsible gene can cause the condition. However, it is also important to note that in some cases, no genetic cause can be identified, suggesting that additional genes or factors may be involved.
Genetic testing for CPVT is available and can be ordered by healthcare professionals or genetic counselors. The results of genetic testing can provide more accurate diagnosis, predict the risk of sudden cardiac death, guide treatment decisions, and help inform family members of their potential risk.
Patient advocacy groups and genetic testing companies may also provide additional resources, support, and information about CPVT and genetic testing. Websites such as the Online Mendelian Inheritance in Man (OMIM), PubMed, and the European Society of Cardiology (Europace) website can offer scientific articles and references about CPVT and related research.
It is important to note that while genetic testing can be helpful, it may not be able to identify the genetic cause in all cases. In some instances, further research and studies are necessary to fully understand the underlying causes and inheritance patterns of CPVT.
ClinicalTrials.gov is a valuable resource for finding clinical trials and research studies related to CPVT and genetic testing. By participating in these trials, patients can contribute to advancing knowledge and potential new treatments for this rare and life-threatening condition.
Genetic and Rare Diseases Information Center
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a recognized inherited rare cardiac condition. It is characterized by an abnormal heart rhythm that can lead to a fast and irregular heartbeat. CPVT can be life-threatening and has been associated with sudden cardiac death in rare cases.
CPVT is caused by genetic mutations in certain genes that are involved in the regulation of calcium within the heart muscle cells, called cardiomyocytes. These mutations can disrupt the normal contraction and relaxation of the heart, leading to abnormal rhythms and potentially dangerous heart palpitations.
The prevalence of CPVT in the general population is estimated to be rare, affecting less than 1 in 10,000 individuals. However, the condition may be more common within certain populations or ethnic groups.
Genetic testing is available for the diagnosis of CPVT. Testing can identify mutations in genes such as CASQ2 and RYR2, which are associated with the condition. Additional genes may also be implicated in the development of CPVT, and ongoing research studies are focused on identifying these genes and understanding their role in the disease.
The Genetic and Rare Diseases Information Center (GARD) provides valuable resources and support for patients and families affected by CPVT. GARD offers information on the causes, inheritance patterns, and clinical features of CPVT. The center also provides a catalog of related articles and references for further reading.
ClinicalTrial.gov is a scientific database that provides information on ongoing and completed clinical trials related to CPVT. These trials aim to test new treatments, evaluate the effectiveness of existing therapies, and further our understanding of the condition. Patients and caregivers can use ClinicalTrial.gov to search for available clinical trials and learn about potential options for participation.
The European Heart Rhythm Association (EHRA) is an advocacy and research organization that focuses on cardiac arrhythmias, including CPVT. EHRA provides educational resources, guidelines, and scientific publications on the diagnosis and management of CPVT. Their website, Europace, offers additional information and resources for healthcare professionals and researchers.
Overall, the Genetic and Rare Diseases Information Center, along with other resources such as GARD, ClinicalTrial.gov, and EHRA, provide important support and information for patients and families affected by CPVT. These resources can help individuals learn about the condition, access genetic testing, participate in research studies, and find appropriate medical care.
Patient Support and Advocacy Resources
Patients diagnosed with Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), a rare genetic condition, often face numerous challenges and uncertainties. However, there are several support and advocacy resources available to assist patients, their families, and caregivers.
- The Center for Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT Center): A recognized center that specializes in CPVT research, diagnosis, and treatment. The CPVT Center offers comprehensive information about the condition and provides support to patients and their families.
- Genetic Testing and Counseling: Genetic testing is essential for diagnosing CPVT and identifying the specific genes responsible for this condition. Patients can consult with genetic counselors who specialize in CPVT to understand the inheritance patterns and obtain personalized insights into the disease.
- CPVT Support Groups: Connecting with other individuals and families facing CPVT can provide a valuable support network. Online support groups and forums offer a platform to share experiences, exchange information, and find emotional support.
- Scientific Research and Publications: Stay updated with the latest scientific advancements in CPVT research. Publications in scientific journals, such as Europace and the Journal of Medical Genetics (Genet), provide valuable insights into the causes, symptoms, and treatment options for CPVT.
- Patient Education and Information: Get more information about CPVT from trusted sources like OMIM (Online Mendelian Inheritance in Man), which provides comprehensive details about the genes, symptoms, and inheritance patterns associated with CPVT. The CPVT Center and other reputable websites also offer valuable resources for patients and their families.
- Clinical Trials: Stay informed about ongoing clinical trials related to CPVT. ClinicalTrials.gov is a searchable database that provides information on current research studies and trials. Participation in clinical trials can offer patients access to cutting-edge treatments and contribute to advancing CPVT knowledge.
- Patient Advocacy Organizations: Several advocacy organizations focus on raising awareness, supporting research, and providing resources for rare genetic diseases like CPVT. These organizations collaborate with medical professionals, researchers, and government agencies to advocate for improved diagnosis, treatment, and patient care.
By utilizing these patient support and advocacy resources, individuals and families affected by CPVT can access the necessary information, emotional support, and resources to better manage their condition and navigate their healthcare journey.
Research Studies from ClinicalTrialsgov
Research studies play a crucial role in understanding and finding effective treatments for rare diseases like catecholaminergic polymorphic ventricular tachycardia (CPVT). ClinicalTrials.gov is a valuable resource for accessing information about ongoing research studies related to CPVT. Here are some of the research studies available on ClinicalTrials.gov:
- Title: Identification of Genetic Substrates in a Cohort of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
- Description: This study aims to identify the genetic causes of CPVT by analyzing the genes involved in the contraction of cardiac myocytes. The study will involve a cohort of patients with CPVT and perform genetic testing to identify any associated genes.
- Status: Recruiting
- Reference: NCT04354315
- Title: The Utility of Exercise Testing in Patients With CPVT and Equivocal Genetic Test Results (EXCITING CPVT)
- Description: This research study aims to evaluate the utility of exercise testing in patients with CPVT who have equivocal genetic test results. The study will assess the prevalence of exercise-induced ventricular arrhythmias in this population and investigate the potential causes of arrhythmias.
- Status: Active, not recruiting
- Reference: NCT04285379
- Title: Characterization of Catecholaminergic Polymorphic Ventricular Tachycardia
- Description: This study aims to provide a comprehensive characterization of CPVT by analyzing the genetic, clinical, and electrocardiographic features of patients with this condition. The research will contribute to a better understanding of the disease and its inheritance patterns.
- Status: Completed
- Reference: NCT00221832
These are just a few examples of the research studies available on ClinicalTrials.gov related to CPVT. By participating in these studies, patients and their families can contribute to the advancement of scientific knowledge about this rare condition. For more information about ongoing research studies, additional resources are available on ClinicalTrials.gov.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and patients interested in learning more about the rare genetic condition called Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). It provides a comprehensive list of genes associated with CPVT and other related diseases.
CPVT is an inherited condition that affects the heartbeat. It is caused by genetic mutations in specific genes, including CASQ2 and other genes. These mutations disrupt the normal contraction of cardiac myocytes, leading to abnormal heart rhythms and potentially life-threatening ventricular tachycardia.
The Catalog includes information on the prevalence of CPVT and the genetic causes of the condition. It also provides additional resources and support for patients and their families, such as advocacy organizations, scientific articles, and clinical trials. The information available on OMIM is constantly updated with the latest research and clinical studies.
Genetic testing is the primary method for diagnosing CPVT. The Catalog provides a list of laboratories that offer testing for CPVT genes. It also includes references to scientific articles and studies that have contributed to the understanding of CPVT and its genetic basis.
OMIM is recognized as a trusted source of information in the scientific and medical communities. It is an invaluable tool for researchers, clinicians, and patients who are interested in studying or managing CPVT or other rare genetic diseases.
References:
- Sanatani S, et al. (2010). Catecholaminergic polymorphic ventricular tachycardia: an update. Europace, 12(5), 683-691. Available from: https://pubmed.ncbi.nlm.nih.gov/20223856/
- Werf C, et al. (2010). Catecholaminergic polymorphic ventricular tachycardia: from bench to bedside. Heart Rhythm, 7(5), 610-617. Available from: https://pubmed.ncbi.nlm.nih.gov/20223758/
Scientific Articles on PubMed
The website PubMed offers a wide range of scientific articles on the topic of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). This rare condition is known to cause life-threatening heart rhythm abnormalities, often leading to sudden cardiac death.
CPVT is associated with genetic mutations that affect the genes involved in the contraction of cardiac myocytes. The condition is recognized to have an autosomal dominant mode of inheritance, meaning that it can be passed down through generations.
PubMed provides articles that offer valuable information on the prevalence, diagnosis, and treatment of CPVT. One such study, published in Europace, explores the prevalence and clinical characteristics of CPVT in a large patient population. This study sheds light on the rarity of the condition and highlights the need for further research and resources.
Genetic testing is available for CPVT, with several genes identified as potential causes of the condition. These genes include RYR2, CASQ2, CALM1, and TRDN, among others. By learning more about these genes and their associated variants, researchers hope to better understand the underlying mechanisms of CPVT.
In addition to scientific articles, PubMed also provides resources for patient advocacy and support groups. These resources offer valuable information about CPVT, its genetic inheritance, and available testing options.
ClinicalTrials.gov is another valuable resource available on PubMed that provides information on ongoing clinical trials related to CPVT. These trials aim to improve our understanding of the condition and develop more effective treatment strategies.
Furthermore, PubMed offers a catalog of articles from OMIM, a comprehensive database that houses information about genetic diseases. This catalog provides further insights into the genes associated with CPVT and their impact on cardiac function.
In conclusion, PubMed offers a wealth of scientific articles and resources on Catecholaminergic Polymorphic Ventricular Tachycardia. Researchers and healthcare professionals can access this information to learn more about the condition, its genetic basis, and potential treatment options. The available resources, such as patient advocacy groups and ongoing clinical trials, offer support and hope for the future.
References
- Sanatani S, Fan C, Ackerman MJ, et al. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2016;13(4):735-742. doi:10.1016/j.hrthm.2015.11.014
- CASQ2 Gene. Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/gene/CASQ2#resources. Published January 26, 2021. Accessed May 27, 2021.
- Catecholaminergic Polymorphic Ventricular Tachycardia. OMIM. Johns Hopkins University. https://omim.org/entry/604772. Published January 25, 2021. Accessed May 27, 2021.
- Tester DJ, Ackerman MJ. The molecular autopsy: Should the evaluation continue after the funeral? Pediatr Cardiol. 2012;33(3):461-470. doi:10.1007/s00246-011-0100-x
- van der Werf C, Nederend I, Hofman N, et al. Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia: Disease Penetrance and Expression in Cardiac Ryanodine Receptor Mutation-Carrying Relatives. Circ Arrhythm Electrophysiol. 2012;5(4):748-756. doi:10.1161/CIRCEP.111.970262
- Besana A, Carboni N, Pieragnoli P, et al. Catecholaminergic polymorphic ventricular tachycardia: A comprehensive analysis of patients manifested at an advanced age. Europace. 2017;19(3):369-375. doi:10.1093/europace/euw041
- Catecholaminergic Polymorphic Ventricular Tachycardia. National Organization for Rare Disorders (NORD). https://rarediseases.org/rare-diseases/catecholaminergic-polymorphic-ventricular-tachycardia/. Accessed May 27, 2021.
- ClinicalTrials.gov. U.S. National Library of Medicine. https://clinicaltrials.gov/. Accessed May 27, 2021.