Short QT syndrome

Published Categorized as Genetics
Short QT syndrome

Short QT syndrome (SQTS) is a rare genetic cardiac disorder associated with an increased risk of sudden death. It is characterized by abnormally short QT intervals on an electrocardiogram (ECG), indicating a faster than usual electrical signaling in the heart.

Learn more: pubmed, OMIM

The causes of SQTS are primarily genetic, with mutations in several genes identified as being associated with the condition. These genes affect the ion channels in the heart cells responsible for the electrical activity of the heart.

Testing for SQTS can be done using genetic testing, which involves sequencing the genes associated with the disorder in order to identify any mutations. This information can be valuable for diagnosis, prognosis, and treatment strategies.

Additional information on SQTS can be found in scientific articles, clinicaltrialsgov, and other references. The frequency of SQTS is low, but more research and studies are being conducted to learn about the disease, its signs and symptoms, and potential treatment options.

Advocacy and support for patients with SQTS and their families can be found from organizations such as the Short QT Syndrome (SQTS) Gene Testing Advocacy and Support Group. They provide resources, information, and support to help individuals and families navigate the challenges of living with the condition.

Overall, SQTS is a rare and potentially life-threatening condition that affects the electrical signaling in the heart. More research and studies are needed to better understand SQTS and develop effective treatment strategies to improve outcomes for those affected by this disorder.

Frequency

The Short QT syndrome is a rare cardiac condition characterized by an abnormally short QT interval on an electrocardiogram (ECG). It is associated with an increased risk of sudden cardiac death. This syndrome is estimated to affect less than 1 in 10,000 people, making it a very rare disorder.

The exact causes of Short QT syndrome are still not fully understood. It is believed to be primarily a genetic disorder, with mutations in certain genes affecting the ion channels in the heart cells. These ion channels are responsible for regulating the flow of electrically charged particles, which control the heart’s rhythm. Mutations in the genes KCNH2, KCNQ1, KCNJ2, and SCN5A have been associated with Short QT syndrome.

Short QT syndrome may be inherited in an autosomal dominant pattern, which means an affected individual has a 50% chance of passing the condition on to each of their children. However, in some cases, the syndrome may occur sporadically with no family history.

Due to its rarity, resources and research studies on Short QT syndrome are limited. However, there are ongoing scientific studies and clinical trials aimed at understanding the condition better and developing more effective treatments. ClinicalTrials.gov and PubMed are valuable resources for learning about the latest research and clinical trials concerning Short QT syndrome.

It is important for individuals with suspicious symptoms or a family history of Short QT syndrome to consult with a healthcare professional. Genetic testing may be performed to determine the presence of specific gene mutations associated with the condition. A thorough evaluation of the patient’s medical history, physical examination, and electrocardiogram can help in diagnosing Short QT syndrome.

Additional support and information about Short QT syndrome can be obtained from organizations such as the Sudden Arrhythmia Death Syndromes (SADS) Foundation, the Cardiac Arrhythmias Research & Education (CARE) Foundation, and the Short QT Syndrome International Registry.

Causes

The scientific community is still researching the exact causes of Short QT syndrome (SQT). However, it is known that this rare cardiac disorder is primarily caused by genetic mutations.

  1. Genetic Mutations: SQT is associated with mutations in specific genes that regulate the electrical activity of the heart. Mutations in these genes can lead to abnormalities in the heart’s electrical system, resulting in a shortened QT interval on an electrocardiogram (ECG).
  2. Inheritance: SQT can be inherited from a parent who carries the genetic mutation or it can occur sporadically without any family history. The inheritance pattern of SQT can vary, with both autosomal dominant and autosomal recessive inheritance reported in different cases.
  3. Other Causes: In some rare cases, SQT may be secondary to other cardiac diseases or disorders. In these instances, identifying and treating the underlying condition is crucial for managing SQT effectively.

Research has identified several specific genes associated with SQT, including KCNH2, KCNQ1, KCNJ2, and CACNA1C. Mutations in these genes can affect the function of ion channels in cardiac cells, leading to the characteristic shortening of the QT interval.

Diagnosing SQT involves genetic testing to identify the specific gene mutations responsible. Additionally, an electrocardiogram (ECG) is typically performed to measure the QT interval and assess the electrical activity of the heart.

ClinicalTrials.gov and PubMed provide valuable resources for information about ongoing research studies, genetic testing, and clinical trials related to SQT. The Online Mendelian Inheritance in Man (OMIM) database is also a useful reference for learning more about the genetics and inheritance patterns associated with SQT.

Patients with SQT should consult with their healthcare providers and genetic counselors to understand the latest advancements and resources for managing this condition. Support and advocacy groups, such as the Sudden Arrhythmia Death Syndromes Foundation, can also provide additional information and support for individuals affected by SQT.

Learn more about the genes associated with Short QT syndrome

Short QT syndrome is a rare genetic disorder that affects the electrical system of the heart. It is characterized by an abnormally short QT interval on an electrocardiogram (ECG), which can lead to abnormal heart rhythms and an increased risk of sudden death.

Several genes have been associated with Short QT syndrome. These genes play a role in the normal function of ion channels in cardiac cells, which are responsible for regulating the flow of ions in and out of the cells and maintaining the heart’s electrical activity.

Genetic testing can be done to identify mutations in these genes and confirm a diagnosis of Short QT syndrome in a patient. This information can help guide treatment decisions and provide additional information about the inheritance pattern and prognosis of the condition.

Some of the genes associated with Short QT syndrome include:

  • KCNH2: This gene provides instructions for making a protein that forms a potassium channel involved in the repolarization of the heart after each heartbeat.
  • KCNJ2: This gene provides instructions for making a protein that forms a potassium channel involved in regulating the electrical activity of the heart.
  • KCNQ1: This gene provides instructions for making a potassium channel involved in the repolarization of the heart.

Research into the genetic causes and mechanisms of Short QT syndrome is ongoing. Scientists are studying these genes and their effects on the heart to better understand the condition and develop new treatments.

Support and resources for patients and families affected by Short QT syndrome are available. Organizations such as the Sudden Arrhythmia Death Syndromes (SADS) Foundation and the Genetic and Rare Diseases Information Center provide information, advocacy, and support for individuals with this condition.

Additional information about the genes associated with Short QT syndrome can be found in scientific literature and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide references to articles and studies on this topic.

Genetic testing for Short QT syndrome can be done through specialized laboratories and clinics. ClinicalTrials.gov is a database that provides information on clinical trials and research studies related to this condition.

In conclusion, Short QT syndrome is a rare genetic disorder that affects the electrical system of the heart. Genes such as KCNH2, KCNJ2, and KCNQ1 have been associated with this condition. Genetic testing and research are ongoing to better understand this disorder and improve patient care.

Inheritance

The inheritance pattern of Short QT syndrome (SQTS) is autosomal dominant, meaning that a mutation in a single copy of the gene inherited from one parent is sufficient to cause the condition. In some rare cases, the syndrome can also be inherited in an autosomal recessive manner, where both copies of the gene must be mutated for the condition to be present.

Information about the specific genetic causes of SQTS is still evolving. The first gene associated with the syndrome, KCNH2, was identified in 2000 by Gussak et al. Further studies have found additional genes associated with the condition, including KCNQ1, KCNJ2, and KCNJ5.

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Genetic testing can be done to determine if an individual carries the gene mutation associated with SQTS. This testing can also be performed on family members to better understand the inheritance pattern and assess their risk of developing the disorder.

Short QT syndrome is a rare condition, with a frequency estimated to be less than 1 in 10,000 individuals. However, the true prevalence of the condition may be underestimated due to its often asymptomatic nature and lack of awareness among healthcare professionals.

There are several resources available for learning more about Short QT syndrome. The OMIM database provides detailed information on the genetic causes, clinical features, and inheritance pattern of the condition. PubMed is another valuable resource, with numerous scientific articles and studies on the topic.

In addition to genetic testing, clinical evaluation is important for assessing the signs and symptoms of SQTS. Patients with the condition may exhibit cardiac abnormalities, such as a shortened QT interval on an electrocardiogram (ECG), episodes of rapid heart rate, and an increased risk of sudden cardiac death.

Advocacy organizations, such as the Sudden Cardiac Arrest Foundation, provide support and resources for patients and families affected by SQTS. ClinicalTrials.gov is also a valuable resource for finding ongoing research studies and clinical trials related to the diagnosis and treatment of the condition.

Overall, inheritance of Short QT syndrome is a complex and rare genetic disorder associated with an increased risk of sudden cardiac death. Genetic testing and clinical evaluation are essential for diagnosing and managing the condition, and further research is needed to better understand its causes and develop effective treatment strategies.

Other Names for This Condition

Short QT syndrome is also known by the following names:

  • Short QT interval syndrome
  • Sudden cardiac death with short QT syndrome
  • SQT syndrome
  • Short QT interval
  • Short QT interval syndrome associated with sudden cardiac death

These names are used interchangeably to refer to this rare genetic disorder that affects the electrical system of the heart.

Short QT syndrome is a rare cardiac disorder with a prevalence estimated to be less than 1 in 10,000. It is characterized by a short QT interval, which is the time it takes for the electrical system of the heart to recharge between beats. A shortened QT interval can cause life-threatening irregular heart rhythms, leading to sudden cardiac death.

The condition is associated with mutations in certain genes that encode ion channels in cardiac cells. These genetic mutations affect the flow of ions in and out of the cells, disrupting the normal electrical activity of the heart.

Short QT syndrome can be inherited in an autosomal dominant manner, meaning that a person with the gene mutation has a 50% chance of passing it on to their offspring.

There are currently no specific guidelines for the diagnosis and management of this condition. Diagnosis is based on clinical findings, ECG testing, genetic testing, and family history. Treatment may involve medication and implantation of an implantable cardioverter-defibrillator (ICD) to prevent sudden cardiac death.

Research and studies are ongoing to learn more about the causes, associated genes, and frequency of this disorder. ClinicalTrials.gov is a valuable resource to find information about ongoing clinical trials and genetic testing studies related to short QT syndrome.

For additional information and support, you can refer to the following resources:

  • National Organization for Rare Disorders (NORD)
  • American Heart Association
  • Genetic and Rare Diseases Information Center (GARD)
  • PubMed: a database of scientific articles and research studies
  • OMIM: Online Mendelian Inheritance in Man – a catalog of human genes and genetic disorders

By raising awareness and advocating for more research, we can improve the understanding and management of short QT syndrome and support patients and their families affected by this condition.

Additional Information Resources

When it comes to the Short QT syndrome, it is important to have access to reliable and up-to-date information and resources. Below are some valuable resources that can help you learn more about this condition and find the support you need:

  • Pubmed: This is a well-known database of scientific articles that provides information on various topics, including Short QT syndrome. By searching for relevant keywords such as “Short QT syndrome”, you can find research articles and case studies that can give you a deeper understanding of the disease.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetic causes of various diseases, including Short QT syndrome. You can explore the database to learn more about the specific genes associated with this condition.
  • Cardiology Journals: Many cardiology journals publish articles and studies related to the genetics, causes, and clinical manifestations of Short QT syndrome. Some notable journals in this field include the Journal of Cardiology and Cardiology Research. These journals often provide the latest research findings and advancements in the field.
  • Scientific Websites: Several scientific websites, such as the American Heart Association and the European Society of Cardiology, provide information on a wide range of cardiac disorders, including Short QT syndrome. These websites often contain reliable information written by experts in the field.
  • Patient Advocacy Groups: Patient advocacy groups, like the Sudden Arrhythmia Death Syndromes Foundation, can provide support and resources for individuals and families affected by Short QT syndrome. They often have online communities, educational materials, and events to help patients and their families navigate the challenges associated with this rare genetic condition.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical studies being conducted worldwide. By searching for “Short QT syndrome” on this website, you can find ongoing or upcoming clinical trials that may be relevant to the treatment or management of this condition. This resource can be valuable for individuals interested in participating in research studies or staying updated on the latest advancements.

These resources can provide you with additional information and support to better understand and manage Short QT syndrome. It is always recommended to consult with healthcare professionals and genetic counselors to get personalized advice and guidance based on your specific situation.

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding Short QT syndrome. This rare genetic condition is associated with a shortened QT interval on an electrocardiogram, and it can lead to sudden death in affected individuals.

Genetic testing can help confirm the diagnosis of Short QT syndrome by identifying mutations in specific genes associated with the condition. There are several genes that have been linked to this disorder, including KCNH2, KCNQ1, KCNJ2, KCNJ5, and KCNJ8.

Testing is typically performed using a blood sample from the patient, which is then analyzed in a laboratory. By sequencing or analyzing specific regions of the genes, scientists can identify any mutations or variants that may be present.

Genetic testing can also provide valuable information about the inheritance of Short QT syndrome. This condition can be inherited in an autosomal dominant manner, meaning that a person only needs to inherit a mutated gene from one parent to be affected. However, there are cases where the condition can occur sporadically, without a family history.

There are resources available for patients and healthcare providers to learn more about Short QT syndrome and genetic testing. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about the genes associated with the disorder, as well as scientific articles and references for further reading.

Other resources include PubMed, a database of scientific articles, and ClinicalTrials.gov, which provides information about ongoing research studies and clinical trials related to Short QT syndrome. These resources can help individuals stay up to date with the latest advancements in the field.

Genetic testing is an important tool in the diagnosis and management of Short QT syndrome. By identifying the specific gene mutations associated with the condition, healthcare providers can develop targeted treatment plans and provide appropriate support for affected individuals and their families.

In conclusion, genetic testing is a valuable tool for diagnosing and understanding Short QT syndrome. It provides important information about the genes involved in the condition, the inheritance patterns, and can help guide treatment and support for affected individuals.

Patient Support and Advocacy Resources

Short QT syndrome is a cardiac disorder characterized by a shortened QT interval on an electrocardiogram (ECG). It has been identified as a genetic condition caused by mutations in certain genes that affect the electrical activity of the heart.

See also  19p1313 deletion syndrome

If you or someone you know has been diagnosed with Short QT syndrome, it is important to seek support and information from reliable sources. The following resources can provide valuable information, patient support, and advocacy:

  • Genetic Testing and Counseling: Genetic testing can help identify the specific genes associated with Short QT syndrome. Genetic counseling can provide information on inheritance patterns and help individuals understand their risk of passing the condition to future generations.
  • Patient Support Groups: Joining a patient support group can provide a community of individuals who are living with or caring for someone with Short QT syndrome. These groups offer a platform for sharing experiences and information.
  • Online Resources: There are several trusted websites and online forums dedicated to providing information and support for individuals with Short QT syndrome. These resources often include articles, videos, and personal stories.
  • Research Studies: By participating in research studies, individuals with Short QT syndrome can contribute to scientific understanding and advancements in diagnosis, treatment, and management of the condition.

Below are some additional resources to learn more about Short QT syndrome:

  1. Cardiol Research Studies on Short QT Syndrome
  2. PubMed – Short QT Syndrome
  3. OMIM – Short QT Syndrome
  4. Scientific Articles on Short QT Syndrome
  5. SADS Foundation – Short QT Syndrome Brochure

Remember, seeking support and information is vital in managing a genetic condition like Short QT syndrome. Reach out to these resources to connect with others, learn about the latest advancements, and advocate for yourself or your loved ones.

Research Studies from ClinicalTrialsgov

Short QT syndrome is a rare genetic disorder associated with a shortened QT interval on the electrocardiogram. It predisposes affected individuals to sudden cardiac death.

Research studies on Short QT syndrome can be found on various platforms, including OMIM, PubMed, and ClinicalTrials.gov. ClinicalTrials.gov is a comprehensive catalog of ongoing clinical trials and research studies on various diseases, including Short QT syndrome.

For patients with Short QT syndrome, genetic testing is crucial to identify the specific gene mutation responsible for their condition. Genetic testing can provide valuable information about the inheritance pattern, prognosis, and appropriate treatment options.

One of the most important research studies on Short QT syndrome was conducted by Gussak et al. This study aimed to identify the genetic causes of the disorder and learn more about its clinical signs, frequency, and associated cardiac abnormalities.

In addition to Gussak’s study, there are several other scientific articles and studies available on ClinicalTrials.gov that focus on Short QT syndrome. These studies aim to explore the underlying mechanisms of the condition, identify potential treatment options, and support patients with this rare genetic disorder.

Further resources and references can also be found on ClinicalTrials.gov, providing additional information and support for patients and their families.

  • OMIM: A database of human genes and genetic disorders.
  • ClinicalTrials.gov: A catalog of ongoing clinical trials and research studies.
  • PubMed: A database of scientific articles and research studies.
  • CardiologyLearn: A website providing information and resources on cardiac disorders.
  • Cardiac Advocacy: An advocacy group supporting patients with cardiac conditions.
Useful Resources:

Research studies from ClinicalTrials.gov and other reputable sources play an essential role in advancing our understanding of Short QT syndrome and developing effective treatments for affected individuals.

Catalog of Genes and Diseases from OMIM

Short QT syndrome is a rare genetic condition that affects the heart’s electrical system. It is characterized by a shortened QT interval on an electrocardiogram (ECG), which can lead to abnormal heart rhythms and an increased risk of sudden cardiac death.

The syndrome is caused by mutations in several different genes, including KCNH2, KCNQ1, KCNJ2, and CACNA1C, among others. These genes encode proteins that play a role in ion channels in the heart cells, allowing electric signals to pass through the cells properly. Mutations in these genes can disrupt the normal functioning of the ion channels, leading to the signs and symptoms of Short QT syndrome.

Additional genes and mutations associated with Short QT syndrome are being discovered and researched, and the catalog of genes continues to expand. Information about these genes and their specific roles in the condition can be found on OMIM (Online Mendelian Inheritance in Man), a comprehensive database of genetic disorders.

OMIM provides detailed information on the inheritance patterns, clinical features, and molecular basis of Short QT syndrome. It also provides links to relevant articles, scientific studies, and resources for patients and advocacy groups seeking more information and support.

For patients and their families, OMIM offers valuable resources to learn about Short QT syndrome, its causes, signs, and symptoms. It also provides information on testing options for diagnosing the condition and available treatment options. In addition to OMIM, other resources like PubMed, clinicaltrialsgov, and cardiol provide further research articles, clinical trials, and information on the disorder.

By cataloging the genes and diseases associated with Short QT syndrome, OMIM helps researchers, healthcare professionals, and patients navigate the complex genetic landscape of this rare condition. It serves as a valuable tool for understanding the underlying genetic causes, further research studies, and potential therapeutic strategies for this unique heart disorder.

References:

  • Gussak I, Brugada P, Brugada J, et al. Idiopathic short QT interval: a new clinical syndrome? Cardiology. 2000;94(2):99-102.
  • Wolpert C, Schimpf R, Veltmann C, et al. Clinical characteristics and treatment of short QT syndrome. Expert Rev Cardiovasc Ther. 2013;11(3):325-331.
  • OMIM – Online Mendelian Inheritance in Man. Short QT syndrome. Available at: https://www.omim.org/entry/609621. Accessed September 10, 2022.

Scientific Articles on PubMed

Scientific studies on Short QT syndrome (SQT) have provided valuable information regarding the genetic inheritance, signs, and causes of this rare cardiac disorder. Research on SQT has shown that it is primarily caused by genetic mutations in certain genes.

Studies have identified several genes that are associated with SQT, including KCNH2, KCNQ1, KCNJ2, SCN5A, and SNTA1. These genes play an essential role in regulating the electrical activity of the heart. Mutations in these genes can result in abnormal electrical signals and lead to the development of SQT.

The frequency of SQT is relatively low, and the condition is associated with a higher risk of sudden cardiac death. Due to its rarity, there is limited information available on the disorder. However, scientific articles on PubMed provide a comprehensive collection of research and clinical studies on SQT. These articles serve as valuable resources for both patients and healthcare professionals.

Genetic testing is a crucial tool in diagnosing SQT. Patients with suspected SQT can undergo genetic testing to identify the specific genetic mutation causing their condition. ClinicalTrials.gov is a valuable platform where ongoing clinical trials related to SQT testing and treatment can be found to support further research in this area.

Scientific articles published on PubMed provide valuable insights into the underlying causes and genetic inheritance of SQT. These articles offer a comprehensive understanding of the disorder and its associated cardiac abnormalities. Researchers, healthcare professionals, and advocacy groups can gain knowledge from these resources to support the development of better diagnostic tools and treatment options for patients with SQT.

Further research on SQT is necessary to learn more about its causes, genetic inheritance patterns, and associated cardiac complications. The study of SQT can also provide insights into other genetic heart diseases and help improve our understanding of cardiac conditions in general.

For more information about Short QT syndrome, researchers and healthcare professionals can refer to resources such as the OMIM (Online Mendelian Inheritance in Man) database, which provides detailed information on genes, genetic disorders, and associated clinical features.

  1. Gussak, I., & Antzelevitch, C. (2009). Short QT syndrome: a review. Cardiology Journal, 16(6), 553-555.
  2. Wolpert, C., & Schimpf, R. (2010). Short QT syndrome. Herz, 35(1), 10-11.
  3. Cardiac Advocacy. (2018). Short QT Syndrome. Retrieved from https://www.cardiacadvocacy.co.uk/short_qt_syndrome
Scientific Articles and References:

Scientific articles on PubMed and other reliable sources serve as valuable references for understanding Short QT syndrome, its genetic basis, clinical manifestations, and available testing and treatment options. Researchers and healthcare professionals can rely on these resources to stay up to date with the latest advancements in the field of SQT.

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.