Romano-Ward syndrome: Difference between revisions
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==Overview== | ==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]] ([[Long QT syndrome|LQTS]]). Romano-Ward syndrome is due to mutation in LQT1, LQT2 and LQT3 genes. | |||
== Historical Perspective == | == Historical Perspective == | ||
Revision as of 16:24, 4 December 2019
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
- There is limited information about the historical perspective of [disease name].
OR
- [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 [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name].
- In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].
Classification
Pathophysiology
Causes
Differentiating Xyz from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Inheritance
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.