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  3. Catecholaminergic polymorphic ventricular tachycardia
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Catecholaminergic polymorphic ventricular tachycardia


Title




Other Names:
Familial polymorphic ventricular tachycardia; Catecholamine-induced polymorphic ventricular tachycardia; CPVT; Familial polymorphic ventricular tachycardia; Catecholamine-induced polymorphic ventricular tachycardia; CPVT; Syncopal paroxysmal tachycardia; Polymorphic catecholergic ventricular tachycardia; Stress-induced polymorphic ventricular tachycardia; Bidirectional tachycardia induced by catecholamine; Double tachycardia induced by catecholamines; Malignant paroxysmal ventricular tachycardia; Multifocal ventricular premature beats See More
Categories:
Congenital and Genetic Diseases; Heart Diseases
Subtypes:
Familial ventricular tachycardia

Summary Summary


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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting. Symptoms most often develop between 7 to 9 years of age.  If untreated CPVT can cause a heart attack and death. CPVT is caused by mutations in the RYR2 or CASQ2 genes. When a RYR2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. When CASQ2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion.[1] In some cases the underlying cause can not be determined. Beta blockers are used to treat CPVT.  An Implantable Cardioverter Defibrillator (ICD) may also be needed. 
Last updated: 1/25/2013

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 10 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Ventricular tachycardia 0004756
30%-79% of people have these symptoms
Vertigo
Dizzy spell
0002321
5%-29% of people have these symptoms
Atrial fibrillation
Quivering upper heart chambers resulting in irregular heartbeat
0005110
Atrial standstill 0025478
Sudden cardiac death
Premature sudden cardiac death
0001645
Syncope
Fainting spell
0001279
1%-4% of people have these symptoms
Abnormal left ventricular function 0005162
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Seizure 0001250
Sudden death 0001699
Showing of 10 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment


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It has been recommended that all people clinically diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) receive treatment. Some individuals who have never had or demonstrated symptoms of CPVT, for example asymptomatic family members with CASQ2 gene mutations, may still benefit from treatment.[2] We recommend that you speak with your healthcare provider regarding your treatment options.
Last updated: 1/25/2013

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Sotalol HCl (Brand name: Betapace) - Manufactured by Berlex Laboratories, Inc.
    FDA-approved indication: Treatment of life-threatening ventricular tachyarrhythmias.
    National Library of Medicine Drug Information Portal
    Medline Plus Health Information
  • Amiodarone HCl (Brand name: Cordarone®) - Manufactured by Wyeth Pharmaceuticals, Inc.
    FDA-approved indication: For initiation of treatment and prophylaxis of frequently recurring ventricular fibrillation and hemodynamically unstable ventricular tachycardia in patients refractory to other therapy.
    National Library of Medicine Drug Information Portal
    Medline Plus Health Information

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The principal differential diagnoses are the long QT syndrome (LQTS), arrhythmogenic right ventricular cardiomyopathy (ARVC), and Andersen-Tawil syndrome (see these terms).
Visit the Orphanet disease page for more information.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Catecholaminergic polymorphic ventricular tachycardia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Catecholaminergic polymorphic ventricular tachycardia. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Catecholaminergic polymorphic ventricular tachycardia. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have been diagnosed with CPVT. I've been off medication for a few years and have been playing sports regularly.  I've never had any syncope. I just read that if untreated CPVT is highly lethal. And now I'm starting to care. I have some questions about this disease: Is there any case of remission? Is it curable? Are sports under treatment better than without treatment? Is there a CPVT specialist anywhere in the world? What is the most up-to-date article/research about this disease? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Catecholaminergic polymorphic ventricular tachycardia. Genetics Home Reference. December 2009; http://ghr.nlm.nih.gov/condition/catecholaminergic-polymorphic-ventricular-tachycardia. Accessed 1/25/2013.
  2. Buxton A. Catecholaminergic polymorphic ventricular tachycardia and other polymorphic ventricular tachycardias with a normal QT interval. In: Basow, DS (Ed). UpToDate. Waltham, MA: UpToDate; 2012;
Do you know of a review article? We want to hear from you.
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