Romano-Ward syndrome 1557064 215897304 2008-05-30T04:50:12Z Edward 4261 link [[cardiac muscle]] {{Infobox_Disease | Name = Romano-Ward syndrome| Image = SinusRhythmLabels.svg | Caption = Schematic representation of normal ECG trace ''([[sinus rhythm]]),'' with waves, segments, and intervals labeled. | DiseasesDB = 11661 | ICD10 = | ICD9 = {{ICD9|794.31}}| ICDO = | OMIM = 192500 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = D029597 | }} '''Romano-Ward syndrome''', is the major variant of '''long QT syndrome'''. It is a condition that causes a [[arrhythmia|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]], [[seizure]]s, or sudden death. ==Inheritance== [[Image:Autodominant.jpg|thumb|right|Romano-Ward syndrome is inherited in an [[autosomal dominant]] pattern.]] 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 5,000 people worldwide, although more people may be affected but never experience any signs or symptoms of the condition. ==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 [[ion|positively-charged ions]], such as [[potassium]] and [[sodium]], in and out of [[cell (biology)|cell]]s. 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 heart beats, 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. ''This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine]'' ==External links== * {{WhoNamedIt|synd|466}} {{Heart diseases}} [[Category:Cardiac electrophysiology]] [[Category:Channelopathy]] [[Category:Genetic disorders]] [[fr:Syndrome de Romano-Ward]]