Genetic Disorders: Channelopathies and Cardiomyopathies

Heart muscle cells contract because of movement of certain molecules (called "ions") across the walls (called "membranes") of the cells. Channelopathies increase a child's risk for life-threatening heart rhythms and for sudden cardiac death (SCD). It is important to remember that while channelopathies are serious medical conditions, they are frequently treatable when they are detected and properly diagnosed.

Heart muscle cells contract because of movement of certain molecules (called "ions") across the walls (called "membranes") of the cells. The three most important ions are calcium, sodium, and potassium. The membrane of each heart cell controls the movement of these ions into and out of the cell by using special "channels." In cardiac channelopathies, these channels do not work like they are supposed to, letting too much or too little of a certain ion through.

Channelopathies increase a child’s risk for life-threatening heart rhythms and for sudden cardiac death (SCD). Examples of channelopathies include Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Long QT Syndrome (LQTS), and Brugada Syndrome (BrS). It is important to remember that while channelopathies are serious medical conditions, they are frequently treatable when they are detected and properly diagnosed.

Long QT syndrome (LQTS)

Long QT syndrome (LQTS) is a condition that affects the flow of ions into and out of the cells in the heart. This abnormal flow of ions can prolong the patient’s QT interval, which is measured on an ECG.  The prolonged QT interval affects how electrical impulses travel through the heart.  Electrical activity may be transmitted abnormally through the lower heart chambers (ventricles) leading to potentially life-threatening ventricular arrhythmias. LQT syndrome is usually, but not always, inherited.

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Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Information Coming in September 2020

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Brugada Syndrome

Brugada syndrome (BrS) is a channelopathy that can also cause dangerous ventricular arrhythmias. Patients with BrS can have an abnormal pattern on their ECG.  Brugada syndrome is the rarest of the channelopathies and usually presents when a person is in their 30’s to 40’s.

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Hypertrophic Cardiomyopathy (HCM)

Information Coming in September 2020

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Dilated Cardiomyopathy (DCM)

Information Coming in September 2020

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Arrhythmogenic Cardiomyopathies (ARVC)

Information Coming in September 2020

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