Abstract

Romano–Ward syndrome is the major variant of "long QT syndrome". It is a condition that causes a disruption of the heart's normal rhythm. This disorder is a form of long QT syndrome, which is a heart condition that causes the cardiac muscle to take longer than usual to recharge between beats; if untreated, the irregular heartbeats can lead to fainting, seizures, or sudden death

Symptoms and signs

Romano–Ward syndrome presents the following in an affected individual:

- Ventricular fibrillation

- Syncope

- Torsade de pointes

- Abnormality of ear

Genetics

Romano–Ward syndrome is inherited in an autosomal dominant pattern. It is the most common form of inherited long QT syndrome, affecting an estimated 1 in 7,000 people worldwide. It should be mentioned that "long QT syndrome" has 6 different variations, therefore Romano–Ward syndrome is one of many

Mechanism

The mechanism of Romano–Ward syndrome "sees" that mutations in the "ANK2, KCNE1, KCNE2, KCNH2, KCNQ1", and "SCN5A" genes can cause Romano–Ward syndrome. The proteins made by most of these genes form channels transport positively-charged ions, such as K and Na. In cardiac muscle, these ion channels play critical roles in maintaining the heart's normal rhythm. Mutations in any of these genes, for example ANK2, KCNE1, KCNE2, alter the structure or function of channels, which changes the flow of ions between cells, a disruption in ion transport alters the way the heart beats, leading to abnormal heart rhythm characteristic of the syndrome.

The protein made by the "ANK2" gene ensures that other proteins, particularly ion channels, are inserted into the cell membrane appropriately. A mutation in the ANK2 gene likely alters the flow of ions between cells in the heart, which disrupts the heart's normal rhythm and results in the features of Romano–Ward syndrome.

Diagnosis

In terms of the diagnosis of Romano–Ward syndrome the following is done to ascertain the condition(the "Schwartz Score" helps in so doing):

- Exercise test

- ECG

- Family history

Treatment

Treatment for Romano–Ward syndrome can "deal with" the imbalance between the right and left sides of the sympathetic nervous system which may play a role in the cause of this syndrome. The imbalance can be temporarily abolished with a left stellate ganglion block, which shorten the QT interval. If this is successful, surgical ganglionectomy can be performed as a permanent treatment.Ventricular dysrhythmia may be managed by beta-adrenergic blockade (propranolol)