Romano-Ward syndrome – Austra Health

Romano-Ward syndrome is a rare genetic disorder that affects the electrical activity of the heart. It is named after the two researchers who first described this condition, Dr. Arthur Romano and Dr. Peter Ward. This syndrome is characterized by a long QT interval on an electrocardiogram (ECG), which is a measure of the time it takes for the heart to recharge between beats.

The long QT interval in Romano-Ward syndrome can lead to abnormal heart rhythms, known as arrhythmias. These arrhythmias can cause fainting spells, seizures, and in some cases, sudden cardiac death. The condition is typically inherited in an autosomal dominant pattern, which means both males and females can be affected and each child of an affected person has a 50% chance of inheriting the condition.

Genetic research has identified several genes that can cause Romano-Ward syndrome, including KCNQ1, KCNH2, SCN5A, and others. These genes are responsible for encoding ion channels in the heart, which play a crucial role in the heart’s electrical signaling. Mutations in these genes can disrupt the normal function of ion channels, leading to the characteristic long QT interval seen in this syndrome.

Testing for Romano-Ward syndrome can be done through genetic testing, which can identify specific mutations in the implicated genes. This information can be used to confirm a diagnosis, predict the risk of complications, and guide treatment decisions. In some cases, additional testing may be required, such as exercise stress testing or provocation testing, to assess the patient’s susceptibility to arrhythmias.

Currently, there are limited resources available for individuals and families affected by Romano-Ward syndrome. However, there are advocacy and support groups, such as the Romano-Ward Syndrome Foundation and the SADS Foundation, that provide information, resources, and support for individuals with this condition. Additionally, there is ongoing research into the causes and treatment of Romano-Ward syndrome, with clinical trials available through the ClinicalTrials.gov database.

To learn more about Romano-Ward syndrome and its associated genetics, there are various scientific articles and references available, including those on PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic and Rare Diseases Information Center (GARD). These resources can provide more information on the clinical features, inheritance patterns, genetic testing, and management of this condition.

Frequency

The Romano-Ward syndrome is a rare genetic condition that affects the electrical system of the heart. The exact frequency of this syndrome is not well known. It is considered to be a rare disease, but the true prevalence is difficult to determine due to its rarity and the varying severity of symptoms among affected individuals.

According to the scientific literature, Romano-Ward syndrome has been reported in patients from different parts of the world. The condition is believed to have an autosomal dominant inheritance pattern, which means that a person with a mutation in the associated gene has a 50% chance of passing the condition on to each of their children.

Genetics Home Reference, a resource provided by the National Library of Medicine, states that mutations in certain genes can cause Romano-Ward syndrome. These genes include KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2. These genes are involved in the regulation of ion channels in heart cells, and mutations in these genes can disrupt the heart’s electrical system, leading to abnormal heart rhythms.

According to the Online Mendelian Inheritance in Man (OMIM) database, Romano-Ward syndrome is associated with long QT syndrome, which is characterized by a prolonged QT interval on electrocardiogram (ECG). Long QT syndrome can cause episodes of rapid heartbeats that can lead to fainting or sudden cardiac arrest.

Information about the frequency of long QT syndrome is available from the Sudden Arrhythmia Death Syndromes (SADS) Foundation, an advocacy and support organization for individuals and families affected by inherited cardiac arrhythmias. The SADS Foundation states that the estimated prevalence of long QT syndrome is about 1 in 2,000 individuals.

More research is needed to determine the exact frequency of Romano-Ward syndrome and its associated long QT syndrome. However, it is clear that they are both rare conditions that can have serious implications for affected individuals and their families.

For more information about Romano-Ward syndrome and related syndromes, additional resources are available. These include scientific articles from PubMed, clinical trials listed on ClinicalTrials.gov, and the Romano-Ward Syndrome page on the Genetics Home Reference website. These resources can provide more information about the genetic causes of the condition, available testing, and other resources for patients and healthcare providers.

Causes

Romano-Ward syndrome is primarily caused by genetic mutations that affect the electrical activity of the heart.
The condition is often inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one mutated gene from either parent to develop the syndrome.
Several genes have been associated with Romano-Ward syndrome, including KCNQ1, KCNH2, and SCN5A.
These genes provide instructions for making proteins that are involved in the movement of ions in and out of heart cells, which is essential for the proper electrical signaling of the heart.
Genetic testing can be done to identify specific gene mutations associated with Romano-Ward syndrome, which can be helpful for diagnosis and for determining the risk of passing on the condition to future generations.
Research studies have shown that mutations in these genes can disrupt normal ion movement, leading to a lengthening of the QT interval on an electrocardiogram (ECG).
Long QT syndrome is a group of inherited heart rhythm disorders that includes Romano-Ward syndrome.
In addition to genetic causes, Romano-Ward syndrome can also be acquired through certain medications, electrolyte abnormalities, or other underlying heart diseases.

Learn more about the genes associated with Romano-Ward syndrome

Romano-Ward syndrome is a rare genetic condition that affects the electrical activity of the heart, leading to abnormal heart rhythms. The syndrome is characterized by a prolonged QT interval on an electrocardiogram (ECG) and can result in a life-threatening irregular heartbeat.

Research studies have identified several genes associated with Romano-Ward syndrome. These genes play a crucial role in the regulation of ion channels in the heart, which are responsible for controlling the flow of charged particles (ions) in and out of heart muscle cells. Mutations in these genes can disrupt the normal functioning of ion channels, leading to the abnormal heart rhythms seen in Romano-Ward syndrome.

One of the most common genes associated with Romano-Ward syndrome is KCNQ1, which codes for a protein involved in the potassium channels of the heart. Mutations in this gene can cause a reduction in the function of potassium channels, prolonging the QT interval and increasing the risk of dangerous heart rhythm abnormalities.

Other genes associated with Romano-Ward syndrome include KCNH2, SCN5A, KCNE1, and KCNE2, among others. These genes contribute to the regulation of sodium and potassium channels in the heart, and mutations in any of them can disrupt normal ion channel function and contribute to the development of Romano-Ward syndrome.

To determine whether a patient has Romano-Ward syndrome, genetic testing is available. This testing can identify specific mutations in the genes associated with the condition, providing a definitive diagnosis. It is important to note that not all cases of Romano-Ward syndrome are caused by mutations in these known genes, suggesting that additional genes may also be involved.

Genetic research on Romano-Ward syndrome is ongoing, with scientists working to identify additional genes and mutations associated with the condition. The discovery of new genes and mutations can help improve the understanding of the underlying causes of Romano-Ward syndrome and potentially lead to new diagnostic and treatment approaches.

If you or someone you know has been diagnosed with Romano-Ward syndrome, it may be helpful to seek support from patient advocacy groups and genetic counseling resources. These organizations can provide valuable information, resources, and support for individuals and families affected by this condition.

For additional information on Romano-Ward syndrome, the following resources may be useful:

The Online Mendelian Inheritance in Man (OMIM) catalog
The National Institutes of Health Genetic Testing Registry
The Pubmed database for scientific articles and research studies
The Seattle Genetic Heart Center
Other rare disease and genetic research organizations

By learning more about the genes associated with Romano-Ward syndrome, individuals and healthcare professionals can better understand the condition, its causes, and potential treatment options.

Inheritance

Romano-Ward syndrome is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition to each of their children. It is additional to other rare genetic syndromes like long-QT syndrome.

Other Names for This Condition

Romano-Ward syndrome
Genetic long QT syndrome
Long QT syndrome type 1
LQTS1
Long QT interval syndrome, autosomal dominant
Romano-Ward disease
Cardiac arrhythmia syndrome, familial
Cardiac arrhythmia syndrome, hereditary
Cardiac arrest, familial, with normal QT interval
Clear intermediate long QT syndrome
Familial long QT syndrome
Jervell and Lange-Nielsen syndrome without deafness
Keywords: J-LN Syndrome, LQT syndrome without deafness, Autosomal recessive
Long QT syndrome (LQTS)
Keywords: Long QT syndrome, Acquired
Long QT syndrome, drug-induced
Keywords: Long QT syndrome, QT prolongation
Long QT syndrome, hereditary
Keywords: Long QT syndromes
Long QT syndrome, acquired
Keywords: long QT syndrome, sudden death
Long QT syndrome, drug-associated
Keywords: mutation carrier, Jervell-Lange Nielsen syndrome, Waardenburg syndrome

Additional Information Resources

Here are some additional resources for further information on Romano-Ward syndrome:

PubMed: A database of articles on biomedical topics, including Romano-Ward syndrome. You can search for articles and research studies related to the syndrome on PubMed.
OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides information on the genetic causes, clinical features, and inheritance patterns of Romano-Ward syndrome.
ClinicalTrials.gov: This website provides information on clinical trials that are being conducted for various diseases, including Romano-Ward syndrome. You can learn more about ongoing trials and their objectives.
Seattle Children’s Heart Center: Seattle Children’s Hospital has a specialized heart center that provides support and information for patients with Romano-Ward syndrome. You can find more information about the center and the services it offers on their website.
CARD (Clinical Genomic Database): CARD is a comprehensive database of genes associated with congenital heart diseases, including Romano-Ward syndrome. It provides information on the frequency of specific genes in different syndromes and the clinical features associated with them.
Genetic Testing: Genetic testing is available for Romano-Ward syndrome. It can help confirm the diagnosis and identify the specific gene mutations responsible for the condition. Talk to your healthcare provider about the availability of genetic testing for Romano-Ward syndrome.

These resources provide scientific and clinical information on Romano-Ward syndrome and can help you learn more about the condition, its causes, associated diseases, and available support and advocacy organizations.

References:

Tester DJ, Ackerman MJ. The role of molecular autopsy in unexplained sudden cardiac death. Curr Opin Cardiol. 2010 Jan;25(1):63-8. doi: 10.1097/HCO.0b013e328333d448. PMID: 19881313.
Schwartz PJ, Crotti L. Romano-Ward syndrome. Orphanet J Rare Dis. 2008 Dec 5;3:18. doi: 10.1186/1750-1172-3-18. PMID: 19061519; PMCID: PMC2631074.
Roden DM. Long-QT syndrome. N Engl J Med. 2008 May 1;358(18):1942-51. doi: 10.1056/NEJMra072350. PMID: 18450602; PMCID: PMC2999382.

Genetic Testing Information

Genetic testing is available for Romano-Ward syndrome, also known as long-QT syndrome, and other related conditions. This testing can help identify the genetic causes of these rare heart conditions and provide important information for patient care and management.

Genetic testing can be performed to detect mutations in specific genes associated with Romano-Ward syndrome. The frequency of genetic mutations in Romano-Ward syndrome cases varies depending on the specific gene and the population being studied. However, mutations in certain genes, such as KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2, are known to be commonly associated with this condition.

Genetic studies have shown that Romano-Ward syndrome has an autosomal dominant inheritance pattern, which means that an affected individual has a 50% chance of passing the gene mutation to their children. It is important to note that these genetic mutations can also be found in individuals who do not show any symptoms of the condition, making genetic testing valuable in identifying carriers of the gene mutations.

Genetic testing for Romano-Ward syndrome can be ordered by healthcare professionals, and the samples are usually sent to specialized laboratories that perform genetic testing for cardiovascular conditions. The results of the genetic test can provide valuable information about the individual’s risk for developing Romano-Ward syndrome, as well as information about treatment options and management strategies.

Additional resources for genetic testing information and support can be found from scientific advocacy organizations, such as the Romano-Ward Syndrome Foundation. These organizations provide information about the latest research and clinical trials related to Romano-Ward syndrome and other related conditions. They also offer support and resources for individuals and families affected by these genetic conditions.

For more information about Romano-Ward syndrome and genetic testing, you can refer to the following resources:

OMIM – Online Mendelian Inheritance in Man: A comprehensive catalog of human genes and genetic disorders.
PubMed – A database of scientific articles and research studies.
SEATTLE – Seattle Children’s Hospital Genetics website: Provides information about genetic testing and related resources.
ClinicalTrials.gov – A database of clinical trials related to genetic testing and Romano-Ward syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a support and advocacy center that provides information about genetic and rare diseases to patients, their families, and medical professionals. GARD is sponsored by the National Institutes of Health (NIH) and is a valuable resource for those seeking information on Romano-Ward syndrome, along with other rare conditions.

GARD offers a wide range of resources and services, including:

Information on the causes, inheritance, and frequency of rare diseases
Support for patients and families affected by rare diseases
Access to research studies and clinical trials
Genetic testing and counseling
References to scientific articles and publications related to rare diseases
Additional resources from partnering organizations

For Romano-Ward syndrome specifically, GARD provides detailed information on the genetics, symptoms, and treatment options available for this rare condition. The center also offers information on other long-QT syndromes, as well as related rare diseases.

Patients and their families can find information about Romano-Ward syndrome from a variety of sources, including PubMed, OMIM (Online Mendelian Inheritance in Man), and the GARD rare disease catalog. These resources provide scientific articles, genetic studies, and clinical trial information that can help patients better understand their condition and explore potential treatment options.

It is important for patients and their families to stay informed about the latest research and advancements in the field of genetic and rare diseases. GARD’s partnership with organizations like the Centers for Disease Control and Prevention (CDC) and the Seattle Children’s Hospital ensures that up-to-date and reliable information is available.

In summary, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for patients, families, and medical professionals seeking information on Romano-Ward syndrome and other rare diseases. With its extensive database of articles, research studies, and support resources, GARD helps individuals navigate the complexities of rare diseases and find the support they need.

Patient Support and Advocacy Resources

Romano-Ward syndrome is a rare genetic condition associated with long-QT syndrome. This condition causes abnormal heart rhythms and can lead to sudden death. Patients with Romano-Ward syndrome may benefit from additional support and advocacy resources to navigate their diagnosis and find necessary resources.

Patient Support

There are several organizations and resources available to provide support for patients with Romano-Ward syndrome:

The Romano-Ward Syndrome Foundation: The foundation provides information, resources, and support for patients and their families affected by Romano-Ward syndrome. Their website offers articles, patient stories, and contact information for additional support.
Genetic and Rare Diseases Information Center: The center provides comprehensive information about Romano-Ward syndrome, including causes, inheritance patterns, and available genetic testing. Patients can access reliable information and resources to better understand their condition.
Long-QT Syndrome International: This organization offers support and advocacy for patients with long-QT syndrome, including Romano-Ward syndrome. They provide educational materials, research updates, and resources for patients and their families.

Advocacy and Research

Advocacy organizations and research centers play a crucial role in advancing knowledge and understanding of Romano-Ward syndrome:

The Romano-Ward Syndrome Foundation: In addition to providing support, the foundation funds research initiatives focused on Romano-Ward syndrome. Patients can learn more about ongoing studies and clinical trials on their website.
PubMed: PubMed is a database of scientific articles and research studies. Patients can explore publications related to Romano-Ward syndrome to learn about the latest discoveries and advancements in the field.
OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. Patients can find detailed information about the genes associated with Romano-Ward syndrome and their genetic inheritance patterns.
ClinicalTrials.gov: ClinicalTrials.gov provides information about ongoing clinical trials for various diseases, including Romano-Ward syndrome. Patients can search for available studies and consider participating in research to contribute to the understanding of their condition.

It is important for patients with Romano-Ward syndrome to access reliable information, support, and advocacy resources. By staying informed and connected with the Romano-Ward syndrome community, patients can navigate their diagnosis and make informed decisions about their healthcare.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov provides valuable support for research studies on Romano-Ward syndrome. With its comprehensive catalog of clinical trials, it enables researchers to collaborate and share information about this genetic syndrome affecting the heart. By referencing cell studies, scientific literature, and other articles from the National Center for Biotechnology Information (NCBI) and PubMed, researchers can learn more about the causes, inheritance, and clinical presentation of this rare condition.

ClinicalTrials.gov also offers additional resources for patients and advocacy groups interested in Romano-Ward syndrome. By browsing the extensive collection of genetic studies, individuals can gain a better understanding of the frequency and inheritance patterns of rare genes associated with this syndrome. The platform provides information about available clinical trials, allowing patients to participate and contribute to the advancement of research in this field.

In collaboration with the University of Washington and the Seattle Children’s Hospital, ClinicalTrials.gov further supports research on Romano-Ward syndrome. The Seattle Children’s Hospital’s Genetics-Cardiology Clinic specializes in diagnosing and treating genetic heart syndromes, providing valuable expertise to researchers studying this condition.

By leveraging the information and resources available on ClinicalTrials.gov, researchers and clinicians can work together to develop more effective treatments for Romano-Ward syndrome. Understanding the genetic basis and clinical presentation of this syndrome is crucial in preventing life-threatening complications and premature death in affected individuals.

Catalog of Genes and Diseases from OMIM

OMIM, short for Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It is used by scientists, researchers, and healthcare professionals to study and understand genetic conditions. The catalog contains information on thousands of genes and associated diseases, including the Romano-Ward syndrome.

The Romano-Ward syndrome is a rare genetic condition that affects the heart’s electrical system, leading to abnormal heart rhythms and an increased risk of sudden cardiac death. It is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene can cause the condition. The syndrome is often diagnosed in childhood or early adulthood and can be life-threatening if not properly managed.

OMIM provides resources and support for patients and families affected by the Romano-Ward syndrome. It offers information on the genetics and inheritance of the condition, as well as links to additional scientific articles and research studies. The catalog also includes references to clinical trials and genetic testing options available for this syndrome.

Researchers and scientists can use the OMIM catalog to learn more about the genes and molecular processes involved in the Romano-Ward syndrome. The catalog provides detailed information on the genetic causes of the condition, as well as the frequency and percentage of cases associated with specific genes. It also includes scientific names and gene symbols for easy reference.

For healthcare professionals, OMIM offers clinical resources and guidelines for the diagnosis and management of the Romano-Ward syndrome. It provides information on the typical symptoms and abnormalities associated with the condition, as well as recommended treatments and interventions.

In addition to scientific information, OMIM also includes advocacy and support organizations for the Romano-Ward syndrome. These organizations provide resources and assistance to patients and families affected by the condition, including support groups, educational materials, and financial assistance programs.

In conclusion, OMIM is a valuable resource for studying and understanding genetic diseases, including the Romano-Ward syndrome. It provides a comprehensive catalog of genes and associated diseases, with information on genetics, clinical resources, research studies, and patient support. Researchers, healthcare professionals, and patients can use OMIM to access the latest scientific research, learn about the causes and inheritance of genetic conditions, and find support and resources for managing rare diseases.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on Romano-Ward syndrome, along with other rare genetic conditions. It provides a vast catalog of research studies, clinical trials, and genetic information related to this syndrome and its associated genes.

By searching on PubMed, patients, clinicians, and researchers can access a wealth of information about the genetics, inheritance patterns, frequency, and causes of Romano-Ward syndrome. The articles available on PubMed can help individuals learn more about this condition and explore potential treatment options.

In addition to PubMed, there are other resources available to support patients and their families. ClinicalTrials.gov provides information on ongoing clinical trials that aim to further understand Romano-Ward syndrome and develop new treatment approaches. This can be a valuable resource for patients who are interested in participating in research studies.

The Seattle Genetics Center is a renowned center for genetic testing and research. They offer testing services for Romano-Ward syndrome and other genetic diseases. Their website provides valuable information on genetic testing options, available resources, and patient advocacy.

OMIM, the Online Mendelian Inheritance in Man, is another valuable resource for learning about rare genetic diseases. It provides detailed information on the genes associated with Romano-Ward syndrome, along with their clinical implications and inheritance patterns.

Scientific articles on PubMed often discuss specific cases of Romano-Ward syndrome and their genetic causes. These studies further our understanding of the syndrome and contribute to the development of potential treatments. Researchers use various genetic testing methods, including sequencing and cell studies, to investigate the underlying mechanisms of Romano-Ward syndrome.

In summary, PubMed and other resources provide a wealth of scientific articles, clinical trials, and genetic information on Romano-Ward syndrome. These resources are invaluable for patients, clinicians, and researchers interested in learning more about this rare genetic condition and exploring potential treatment options.

References

For more information on Romano-Ward syndrome, please refer to the following resources:

The Online Mendelian Inheritance in Man (OMIM) catalog provides information on the genetic causes and inheritance of Romano-Ward syndrome. Available at https://www.omim.org.
ClinicalTrials.gov is a database of clinical trials testing new treatments for various diseases. Search for Romano-Ward syndrome trials at https://clinicaltrials.gov.
The Cell Center for Genetics and Inherited Cardiovascular Diseases in Seattle provides support, information, and resources for patients with Romano-Ward syndrome. Learn more at https://www.cellcenter.org.
PubMed is a database of scientific articles and studies. Search for articles about Romano-Ward syndrome at https://pubmed.ncbi.nlm.nih.gov.

Additional genetic references:

The Genetic and Rare Diseases Information Center offers information on the causes, inheritance, and frequency of rare conditions, including Romano-Ward syndrome. Visit https://rarediseases.info.nih.gov.
The Genetic Testing Registry provides information about genetic testing for Romano-Ward syndrome and other genetic conditions. Find more at https://www.ncbi.nlm.nih.gov/gtr.
The Genes and Diseases database provides a list of genes associated with Romano-Ward syndrome. Access the database at https://www.ncbi.nlm.nih.gov/gene.

Support and advocacy:

The Long QT Syndrome Foundation offers support and advocacy for individuals and families affected by long QT syndromes, including Romano-Ward syndrome. Learn more at https://www.longqt.org.