channelopathy

(redirected from Channelopathies)
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channelopathy

A popular term for a heterogeneous group of conditions caused by structural (due to mutations) or functional (acquired, e.g., autoimmune) defects in ion channels or their regulatory proteins.
 
Examples
Cystic fibrosis, Dent’s disease, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, myasthenia gravis, hyperkalemic, hypokalemic and normokalemic periodic paralysis, congenital myotonia.

channelopathy

A disease that results from a mutation in an ion channel in a cell membrane (e.g., from a mutation that alters the uptake of an electrolyte such as sodium, potassium, or calcium by a cell).
References in periodicals archive ?
marked first-degree AV block, second-degree or higher AV block and sick sinus syndrome without pacemaker), sodium channelopathies (e.
fMCG has been used to diagnose various fetal tachycardias, bradycardias, and channelopathies, such as long QT syndrome.
Some forms of epilepsy and migraine are known to be channelopathies.
It has new content on atrial fibrillation, implantable defibrillators, indications for pacemaker implantation, anticoagulant therapy, long QT syndromes and other channelopathies, and recently-approved anti-arrhythmia drugs.
Cleveland SADS Foundation Young Investigator Awards in Cardiac Channelopathies.
The Italian pre-participation screening program has been demonstrated to be helpful in order to rule out the presence of cardiac diseases like HCM, channelopathies and arrhythmic diseases, simply by adding an ECG to clinical examination.
While sudden cardiac death can be caused by a wide range of conditions, Dr Wilson identified three broad conditions responsible for fatalities - cardiomyopathies, which are problems with heart muscles; ion channelopathies, rare disorders affecting the sodium, potassium and calcium channels present in the heart muscles responsible for regulation of electrical current in and out of cells, and Wolff-Parkinson-White, a very rare condition where sufferers have an additional electrical connection between the upper and lower chambers of the heart.
Like other channelopathies, arrhythmias and symptoms typically occur at times of rest or sleep when vagal activity predominates.
7) Less common causes include aortic rupture in Marfan syndrome, myocarditis, valvular disease (aortic stenosis, mitral valve prolapse) and the ion channelopathies (long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia), and blunt chest trauma causing malignant arrhythmia (commotio cordis).
Less common causes include Cushing's syndrome, licorice ingestion, certain forms of congenital adrenal hyperplasia, Liddle's syndrome, rare renin-secreting tumors and channelopathies.
The condition, known as channelopathies, has been known to strike down even young people.
channels are subject to spontaneous mutation and are associated with channelopathies like Anderson--Tawil syndrome, diabetes mellitus, epilepsy, episodic ataxia, erectile dysfunction, long QT syndrome and periodic paralysis (2-5).