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Romano-Ward Syndrome
Sunday, 23 November 2003
Wednesday, 04 February 2004
Long QT Syndrome

What

Romano-Ward syndrome (RWS), or long QT syndrome, is a genetic disorder that causes arrhythmias (abnormal heart beat rhythms). While the heart’s rhythm is normal most of the time in this syndrome, people with long QT syndrome are at risk for sudden arrhythmias that can cause loss of consciousness (syncope) or death. It can be identified before the arrhythmias occur by changes on an EKG, which is an electrical tracing of the heart’s activity.

Who

Romano-Ward syndrome was thought to occur in one out of every 5000 to 7000 babies born. However, as we learn more about the disease, some people now believe that RWS is much more common and may occur in one of every 3000 to 5000 people. In the United States, this disorder is thought to affect about 50,000 people. There seems to be no racial preference. Studies have shown that boys seem to have increased risk of cardiac events (syncope or death) until they reach puberty. After puberty, the girls tend to have an increased risk.

Signs and Symptoms

The usual symptoms are syncope or sudden death, which typically occur during times of emotional stress or physical activity. Some individuals may also have an abnormally slow resting heart rate. These symptoms can present at any age, from a newborn baby to an adult, but most commonly they begin in the teenage years. Sometimes, a seizure is blamed for the original loss of consciousness, and the RWS will remain undiagnosed. Any sudden loss of consciousness during physical activity or during a time of emotional stress should raise suspicion for the Romano-Ward syndrome and your physician should obtain an EKG to look for a prolonged QT interval. The inciting events, or triggers, for these cardiac events can be broken down into: physical activity (swimming or running), loud noises (alarm clock, horn or ringing phone), or emotions (anger, crying, taking an exam or other stressful situations). Sudden death may also occur when a person is sleeping.

Possible Causes

Romano-Ward syndrome was originally described in 1957. The syndrome is characterized by a lengthening of the QT interval on a tracing of the heart’s electrical activity (EKG). This lengthening can make the heart more vulnerable to early extra heartbeats. These irregular contractions can develop into very fast heartbeats (ventricular tachyarrhythmia) which may cause passing out (syncope), the heart to stop (cardiac arrest), or even sudden death. It is a genetic disorder that is inherited in an autosomal dominant pattern, usually from the parent who also has RWS. This means that the affected parent has one copy of the affected gene and one normal copy of the gene. The child will have a 50% chance of inheriting the affected gene and having RWS, and a 50% chance of receiving the normal gene and not being affected. So far, there have been five genes discovered that have mutations that cause the long QT syndrome, but there are probably several more that have not been located yet. These genes code for proteins that make up the gates that trigger the heart muscle to contract. These gates, or cardiac ion channels, allow positive and negative charges to move in and out of the heart muscle. In RWS, the faulty gates allow too many positive charges to enter into the heart muscle. When this happens, the heart muscle has a little too much relaxing time before the next heart beat. It is during this extra time that the heart is vulnerable and can be stimulated by one of the above triggers to start into a rapid heartbeat. Most of the time this rapid heart beat stops by itself, but sometimes it can continue on into the arrhythmias that lead to syncope or sudden death.

Diagnosis

: A simple EKG can make the diagnosis, though occasionally other tests are needed. The QT interval varies with age and sex. You should consult a physician for your child’s specific QT interval and what is appropriate for his or her age. If a family member is known to have the disorder and their specific mutation is known, sometimes it is possible to check blood samples for the same gene mutation.

Treatment

All patients, whether they have symptoms or not, should be treated. The first line of therapy is a medication called a beta-blocker. These drugs are effective in about 90% of people and work by blocking the effects of certain chemical messengers released when people exercise or are stressed in some way. These “stress hormones” are the ones that can send the heart into a rapid heartbeat. If medication is unsuccessful, a pacemaker or automatic defibrillator can be placed to control how fast the heart will beat. These are medical devices that are implanted under the skin and can restore the heart to a normal beating pattern in an emergency. Another, less common treatment is the surgical removal of certain nerves in the neck. This is called a left cardiac sympathetic denervation. This also decreases the production of the stress hormones.

Prognosis

Prognosis is good overall, with 70% of patients having no syncope or significant arrhythmias. Although there is no cure presently, there are currently some ongoing clinical trials dealing with gene-therapy. Parents can also help by learning CPR and making sure that those taking care of their children are trained in CPR.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Long QT syndrome frequently asked questions
Excellent website for all questions relating to RWS. Well written and easy to understand.

Sudden arrhythmia death syndrome foundation (SADS)
Great link for parents and children to read about others affected, ongoing research, international symposiums and support groups.

Google Search for Romano-Ward Syndrome

References and Sources

Zareba, Wojciech and S. Rosero. Long QT Syndrome. www.emedicine.com/med/topic1983.htm Frequently asked questions about long QT syndrome www.qtsyndrome.ch/faqp.html