What are the other Names for this Condition? (Also known as/Synonyms)

• Autosomal Dominant Long QT Syndrome
• Long QT Syndrome without Deafness
• WRS (Ward-Romano Syndrome)

What is Romano-Ward Syndrome? (Definition/Background Information)

• Romano-Ward Syndrome (RWS) is an inherited heart disorder characterized by abnormalities that affect the electrical system of the heart
• Main characteristic features of this medical disorder include:
  • Prolongation of the QT interval: The cardiac muscles take longer time than usual to recharge between beats
  • Ventricular tachyarrhythmia: It is a fast heart rhythm that originates in one of the ventricles of the heart
  • Torsades de pointes: An uncommon and unique type of ventricular tachycardia (a pulse rate of more than 100 beats per minute, with at least three irregular heartbeats in a row)
  • Syncope: A temporary loss of consciousness and posture described by the commonly used words such as fainting and passing-out
  • Sudden death
• It is one form of Long QT Syndrome (a condition in which the cardiac muscles take longer time than usual to recharge between beats), which causes arrhythmia; a medical condition in which heart's normal rhythm is affected or disturbed
• Abnormalities that occur in certain genes cause Romano-Ward Syndrome. The syndrome may develop spontaneously or be inherited in an autosomal dominant trait (indicating that only copy of the gene needs to be mutated to develop this disorder)
• Beta blockers are the drugs of choice for treating Romano-Ward Syndrome. When left untreated it could lead to syncope (fainting), seizures, cardiac arrest, and sudden death

Who gets Romano-Ward Syndrome? (Age and Sex Distribution)

• Any individual is likely to be affected by Romano-Ward Syndrome, though the disorder is more commonly observed from infancy till middle age i.e., during infancy, early childhood, adolescence, and early adulthood
• Rare occurrences of the syndrome in the fifth decade of life have also been reported
• The incidence of this disorder is estimated to be 1 in 7000 throughout the world
• Females are generally affected more than males
• No geographical, racial, and ethnic predominance has been observed

What are the Risk Factors for Romano-Ward Syndrome? (Predisposing Factors)

The risk factors for Romano-Ward Syndrome include:

• Gender: Females are affected more than males by this disorder, mainly during and after the onset of menopause
• Genetic factors: This is a genetic disorder that is inherited in an autosomal dominant pattern; hence, a family history of the condition is a risk factor

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your health care provider.

What are the Causes of Romano-Ward Syndrome? (Etiology)

Romano-Ward Syndrome can either be sporadic (not inherited, occurring in individuals with no family history of the disorder) or it may be inherited in an autosomal dominant pattern.

• Abnormalities and alterations that occur in the ANK2, KCNE1, KCNE2, KCNH2, KCNQ1, and SCN5A genes are the possible cause for Romano-Ward Syndrome
• KCNE1, KCNE2, KCNH2, KCNQ1, and SCN5A are genes that make proteins that form channels to transport positively charged ions, such as potassium and sodium, in and out of the cells, which play a vital role in maintaining the normal rhythm of the heart. An alteration or changes in these genes affects the structure, formation, and functioning of the channels, disturbing the flow of ions between cells and leading to an abnormal heartbeat
• The ANK2 gene on the other hand, produces a protein whose main function is to ensure that other proteins are properly inserted in the appropriate cell membrane. A mutation or alteration in this gene affects the flow of ions between cells in the heart and leads to abnormal rhythm of the heart

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Romano-Ward Syndrome?

Some individuals with Romano-Ward Syndrome do not develop any symptoms, while others may develop the following signs and symptoms:

• Tachyarrhythmias: Abnormal increase in the heartbeat which leads to
  • Syncope (unconsciousness)
  • Cardiac arrest: Sudden failure of the heart to contract and effectively supply blood to the body
  • Sudden death            
• Sinus bradycardia: A regular, but unusually slow heartbeat (50 beats/minute or less at rest)
• Recurrent syncope (fainting)
• Partial or total loss of consciousness
• Long QT intervals: The cardiac muscles take longer time than usual to recharge between beats
• Seizures
• Lowered blood potassium level

How is Romano-Ward Syndrome Diagnosed?

The diagnosis of Romano-Ward Syndrome requires:

• A thorough physical examination, correlated with a complete medical (and family) history is the first step in the diagnosis of Romano-Ward Syndrome
• All patients who exhibit syncope need to be tested for the syndrome
• ECG test with calculation of the QT interval must be performed in patients with a family history of RWS
• Electrocardiogram (ECG) findings help in the diagnosis and confirmation of RWS
• Molecular diagnosis is also performed to diagnose the condition

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Romano-Ward Syndrome?

Complications due to Romano-Ward Syndrome could include:

• Ventricular tachyarrhythmia: It is a fast heart rhythm that originates in one of the ventricles of the heart.
• Torsades de pointes: An uncommon and unique type of ventricular tachycardia (with a pulse rate of more than 100 beats per minute, and at least 3 irregular heartbeats in a row)
• Syncope: A temporary loss of consciousness and posture, which is described commonly by words such as fainting and passing-out

Sometimes, Romano-Ward Syndrome can result in sudden death.

How is Romano-Ward Syndrome Treated?

The treatment measures for Romano-Ward Syndrome include:

• Medications - the use of betablockers:
  • These are the commonly used drugs in the treatment of Romano-Ward Syndrome
  • It helps in the prevention of cardiac arrest
  • The effectiveness of the use of beta blockers in the treatment of RWS is estimated to be 70%
  • The use of permanent pacemakers along with the use of beta blockers is also recommended             
• Left stellate ganglion block for arrhythmias may be performed when drug treatment is ineffective
• Implantable cardioverter defibrillator (ICD) is used in the treatment in high-risk patients
• Individuals diagnosed with Romano-Ward Syndrome are generally advised to avoid competitive sports such as swimming, running, and other strenuous physical exercises.

How can Romano-Ward Syndrome be Prevented?

• Currently, there are no specific methods or guidelines to prevent Romano-Ward Syndrome, since it is a genetic condition
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Nevertheless, the following measures may be helpful for individuals with Romano-Ward Syndrome:

• Avoid sudden noises, severe emotional stresses, strenuous exercises, water sports, and other physical activities
• Family members and patients must be taught about the importance of treating Romano-Ward Syndrome with beta blockers
• Asymptomatic individuals need not be hospitalized. But, their health should be carefully monitored with follow up care by a cardiologist or a cardiac electrophysiologist on a regular basis

What is the Prognosis of Romano-Ward Syndrome? (Outcomes/Resolutions)

• If Romano-Ward Syndrome is left untreated, then the outcome is very poor
• Early diagnosis with neonatal ECG screening and application of effective therapies in the treatment of RWS can help improve the prognosis
• Risk of death is higher in boys than girls, younger than 10 years. After the age of 10 years, the risk level is even between boys and girls

Additional and Relevant Useful Information for Romano-Ward Syndrome:

• Symptomatic patients are more at risk for sudden death, though it should be noted that sudden death may occur with the first episode of syncope in about 30% of the patients
• Diagnosis of Romano-Ward Syndrome in pre-symptomatic period is very important