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)

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Dilated Cardiomyopathy (DCM)

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Arrhythmogenic Cardiomyopathies (ARVC)

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Heart Rhythm Disorders
Millions of people experience irregular or abnormal heartbeats, called arrhythmias, at some point in their lives. Most of the time, they are harmless and happen in healthy people free of heart disease. However, some abnormal heart rhythms can be serious or even deadly. Having other types of heart disease can also increase the risk of arrhythmias.
Pediatrics and Congenital Heart Disease (CHD)
This section is for pediatric patients and families living with heart rhythm disorders and heart rhythm disorders related to congenital heart disease (CHD).
Early Warning Signs
If you are experiencing a racing, pounding, rumbling or flopping feeling in your chest or if you have been fainting, having repeated dizzy spells, feeling lightheaded or you are extremely fatigued, it's time to see a doctor to discuss your heart health.
Common Treatments
Learning about the underlying cause of any heart rhythm disorder provides the basis for selecting the best treatment plan. Information and knowledge about care options, and their risks and benefits help you work with your health care provider to make the best choices.
Lifestyle
Since other heart disorders increase the risk of developing abnormal heart rhythms, lifestyle changes often are recommended. Living a “heart healthy” lifestyle can ease the symptoms experienced with heart rhythm disorders and other heart disorders, and can be beneficial to overall patient health.
The Normal Heart
The heart is a fist-sized muscle that pumps blood through the body 24 hours a day, 365 days a year, without rest. The normal heart is made up of four parts: two atria on the top of the heart (right atrium and left atrium), and two ventricles (right ventricle and left ventricle) which are the muscular chambers on the bottom of the heart that provide the major power to pump blood.