Romano-Ward syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Synonyms and keywords: Autosomal Dominant Long QT syndrome, Long QT syndrome without deafness, LQTS, Romano-Ward Long QT syndrome, RWS, Ward-Romano syndrome, Romano-Ward syndrome

Overview

Romano-Ward syndrome is a rare genetic condition with autosomal dominant inheritance pattern which leads to abnormal ventricular myocardial repolarization which results in long QT syndrome (LQTS). Romano-Ward syndrome is due to mutation in LQT1, LQT2 and LQT3 genes.

Historical Perspective

• [Disease name] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event].

• The association between [important risk factor/cause] and [disease name] was made in/during [year/event].
• In 1963, Romano and in 1964, Ward was the first to discover almost similar condition like Jervell and Lange-Nielsen syndrome and they named it as Romano-Ward syndrome.
• In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].

Epidemiology and Demographics

Prevalence

• The prevalence of Romano-Ward syndrome is approximately 1 in 7000 individuals worldwide.
• In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
• The prevalence of [disease/malignancy] is estimated to be [number] cases annually.

Causes

Mutations in the ANK2, KCNE1, KCNE2, KCNH2, KCNQ1, and SCN5A genes cause Romano-Ward syndrome. The proteins made by most of these genes form channels that transport positively-charged ions, such as potassium and sodium, in and out of cells.

In cardiac muscle, 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 channels, which changes the flow of ions between cells.

A disruption in ion transport alters the way the heartbeats, leading to the abnormal heart rhythm characteristic of Romano-Ward syndrome.

Unlike most genes related to Romano-Ward syndrome, the ANK2 gene does not produce an ion channel. 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.

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