- Romano-Ward syndrome
Name = Romano-Ward syndrome
Caption = Schematic representation of normal ECG trace "(
sinus rhythm)," with waves, segments, and intervals labeled.
DiseasesDB = 11661
ICD9 = ICD9|794.31
OMIM = 192500
MeshID = D029597
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 muscleto take longer than usual to recharge between beats. If untreated, the irregular heartbeats can lead to fainting, seizures, or sudden death.
Romano-Ward syndrome is inherited in an
autosomal dominantpattern. 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.
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 potassiumand 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 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 membraneappropriately. 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] "
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