channelopathy

(redirected from Channelopathies)

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 ?
Myotonia congenita (MC) is a group of genetically and clinically heterogeneous congenital neuromuscular channelopathies, typically characterized by the delayed relaxation of the muscles after voluntary contraction, stiffness, hypertrophy, transient weakness, and cramping.
7] However, some causes cannot be detected by autopsy such as arrhythmia, ventricular tachycardia, Brugada syndrome, long QT syndrome, channelopathies, seizure disorder, thyroid storm, hypokalaemia and the like [8].
gov/pubmed/24795161) called channelopathies ) are a cause.
Genetic testing for uncovering SNP's and variants related to channelopathies and specific disorders are also useful when more routine clinical testing is not revealing.
They cover the evaluation and management of bradycardia, supraventricular tachycardia, ventricular tachycardia, sudden cardiac death and cardiac arrest, and other problems; electrophysiology equipment and testing, the principles of mapping and ablation, indications for cardiac rhythm management devices, and ambulatory electrocardiographic monitoring; pacemakers and defibrillators; the approach to patients with wide complex tachycardia; antiarrhythmic medications; and channelopathies.
The history and physical exam was useful in identifying young people with channelopathies or Marfan syndrome.
3,9-10,12] It has been suggested that some of the latter cases may be explained by cardiac channelopathies such as long QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
The use of diuretics and vomiting (postemetic bicarbonaturia forces urinary potassium excretion, and the decrease in extracellular fluid increases aldosterone secretion) were excluded, so the remaining options were hypomagnesemia or genetic channelopathies, such as Bartter syndrome (BS) or Gitelman syndrome (GS).
In the physiopathology of SUDEP central sleep apnea, pulmonary edema, systemic acidosis that arises due to seizure-induced acute pulmonary changes and fatal arrhythmia as a result of this, fatal arrhythmias caused by cardiac autonomic dysfunction induced by seizures on the basis of hereditary cardiac ion channelopathies, and unknown reasons triggered by acute physiological stress are suspected (8).
The possibility exists that some of these deaths could have been due to underlying natural disease processes such as channelopathies, which could increase the number of natural disease processes.
1-8) Arrhythmogenic cardiomyopathy is the only primary cardiomyopathy with a concealed phase, which is reminiscent of the ion channelopathies and means that AC shares features of both conventional cardiomyopathies and inherited arrhythmias.