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Romano-Ward Syndrome

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Overview

What is Romano-Ward syndrome? The following text is taken from the Genetics Home Reference (update pending):

Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The term "long QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (ECG or EKG), which is a test used to measure the electrical activity of the heart. In people with long QT syndrome, the part of the heartbeat known as the QT interval is abnormally long. Abnormalities in the time it takes to recharge the heart lead to abnormal heart rhythms.

The arrhythmia associated with Romano-Ward syndrome can lead to fainting (syncope) or cardiac arrest and sudden death. However, some people with Romano-Ward syndrome never experience any health problems associated with the condition.

Fifteen types of long QT syndrome have been defined based on their genetic cause. Some types of long QT syndrome involve other cardiac abnormalities or problems with additional body systems. Romano-Ward syndrome encompasses those types that involve only a long QT interval without other abnormalities.

Frequency
Romano-Ward syndrome is the most common form of inherited long QT syndrome, which affects an estimated 1 in 2,000 people worldwide. Long QT syndrome may actually be more common than this estimate, however, because some people never experience any symptoms associated with arrhythmia and therefore may not be diagnosed.

Causes
Mutations in the KCNQ1, KCNH2, and SCN5A genes are the most common causes of Romano-Ward syndrome. These genes provide instructions for making proteins that form channels across the cell membrane. These channels transport positively charged atoms (ions), such as potassium and sodium, into and out of cells. In cardiac muscle cells, these ion channels play critical roles in maintaining the heart's normal rhythm. Mutations in any of these genes alter the structure or function of the channels, which changes the flow of ions in and out of cells. A disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of Romano-Ward syndrome.

Mutations in other genes involved in ion transport can also cause Romano-Ward syndrome; each of these additional genes is associated with a very small percentage of cases.

Inheritance Pattern
Romano-Ward syndrome follows an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A small percentage of cases result from new mutations in one of the associated genes. These cases occur in people with no history of Romano-Ward syndrome in their family. Some people who have an altered gene never develop signs and symptoms of the condition, a situation known as reduced penetrance.

Resources

We are compiling a list of websites to help you understand genetics and genetic test results. If you would like to suggest other resources for this section, please feel free to This email address is being protected from spambots. You need JavaScript enabled to view it.!
INFORMATION ABOUT GENETICS AND GENETIC TESTING:

Weblink to Genetics Home Reference Genetics Home Reference
Consumer-friendly information about the effects of genetic variations on human health. Federally-supported resources, include reviews of more than 800 genetic diseases and more than 1000 genes.


Weblink to NHGRI Learning ResourcesLearning Resources from the NHGRI
Lots of very good resources from the NHGRI, including major sections about The Human Genome Project, Facts Sheets, and educational resources for teachers and students.


Weblink to National Society of Genetic CounselorsFind a Genetic Counselor
The National Society of Genetic Counselors have a searchable database of genetic counselors. Their website also includes some education materials for patients and healthcare professionals.


Weblink to NHGRI Talking GlossaryNHGRI Talking Glossary
Talking glossary of genetic terms developed by the National Human Genome Research Institute. A huge range of definitions is provided by researchers from around the world.


Weblink to Help Me Understand GeneticsHelp Me Understand Genetics
Help Me Understand Genetics is a handbook from the National Institutes of Health that contain useful information about genetics in clear language and provides links to even more online resources. The entire handbook can also be downloaded as a pdf.


Weblink to the Genetic and Rare Diseases Information CenterGenetic and Rare Diseases Information Center (GARD)
A joint project from The Office of Rare Diseases Research (ORDR) and the National Human Genome Research Institute (NHGRI) that provides searchable information about genetic conditions and rare diseases. It also includes a list of FDA-Approved drugs and other medical products for treating rare disease.


Weblink to NORDNational Organization for Rare Disorders - Resources for Parents/Families
The National Organization for Rare Disorders (NORD) is a volunteer organization dedicated to empowering the rare disease community. Again, they have some very nice web resources.


Weblink to ELSIEthical, Legal and Social Implications Research Program
The ELSI Research Program supports examinations and investigations of the ethical, legal and social implications of genetics research.


Weblink to GINAGenetic Information Nondiscrimination Act of 2008
The Genetic Information Nondiscrimination Act of 2008, also referred to as GINA, is a new federal law that protects Americans from being treated unfairly because of differences in their DNA that may affect their health.


Weblink to Learn.GeneticsLearn.Genetics, University of Utah
Excellent resources, especially for those involved in education. Includes a catalog of animations, videos, interactive features, and virtual labs.


Weblink to the Dolan DNA Learning CenterDolan DNA Leaning Center
The DNALC provides genetics learning resources for teachers and students.


INFORMATION FOR RESEARCHERS:

Weblink to the ClinVar ACMG recommendations pageClinVar: ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing
Clinvar's dedicated ACMG page - a useful jumping-off point to the Genetic Testing Registry, OMIM, MedGen, and local ClinVar pages for each gene.


Weblink to NCBI GeneReviews General pageGene Reviews
Gene Reviews (updated September, 2018)


About

What is the purpose of this information?
Our aim is to provide information about why we do genetic testing. We try to answer some common questions and offer guidance on some personal and practical issues. This information is for anybody with questions about genetic testing for any of the diseases and drugs listed in this site.

Are there geographical differences in testing, service or treatment?
Different centers have different policies in terms of how tests are administered and results shared. However, the results discussed in this document should be relevant to most individuals tested for risk of developing genetic disease.

How is this paid for?
If you received this test as part of the eMERGE research study, neither you nor your insurance company will have to pay anything toward this test

When was this content last updated?
October 10, 2018.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.
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