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1.

short QT syndrome

Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia). In people with this condition, the heart (cardiac) muscle takes less time than usual to recharge between beats. The term "short QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (EKG), which is a test used to measure the electrical activity of the heart. In people with this condition, the part of the heartbeat known as the QT interval is abnormally short.If untreated, the arrhythmia associated with short QT syndrome can lead to a variety of signs and symptoms, from dizziness and fainting (syncope) to cardiac arrest and sudden death. These signs and symptoms can occur any time from early infancy to old age. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year. However, some people with short QT syndrome never experience any health problems associated with the condition.
[from GHR]

MedGen UID:
378835
Concept ID:
C2348199
Disease or Syndrome
2.

Paroxysmal atrial fibrillation

Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously. [from HPO]

MedGen UID:
115990
Concept ID:
C0235480
Disease or Syndrome
3.

Sudden cardiac death

The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). [from HPO]

MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
4.

Syncope

Fainting is a temporary loss of consciousness. If you're about to faint, you'll feel dizzy, lightheaded, or nauseous. Your field of vision may white out or black out. Your skin may be cold and clammy. You lose muscle control at the same time, and may fall down. Fainting usually happens when your blood pressure drops suddenly, causing a decrease in blood flow to your brain. It is more common in older people. Some causes of fainting include. -Heat or dehydration . -Emotional distress . -Standing up too quickly . -Certain medicines . -Drop in blood sugar . -Heart problems . When someone faints, make sure that the airway is clear and check for breathing. The person should stay lying down for 10-15 minutes. Most people recover completely. Fainting is usually nothing to worry about, but it can sometimes be a sign of a serious problem. If you faint, it's important to see your health care provider and find out why it happened. .  [from MedlinePlus]

MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
5.

Atrial fibrillation

An arrhythmia is a problem with the speed or rhythm of the heartbeat. Atrial fibrillation (AF) is the most common type of arrhythmia. The cause is a disorder in the heart's electrical system. . Often, people who have AF may not even feel symptoms. But you may feel . -Palpitations -- an abnormal rapid heartbeat. -Shortness of breath. -Weakness or difficulty exercising. -Chest pain. -Dizziness or fainting. -Fatigue. -Confusion. AF can lead to an increased risk of stroke. In many patients, it can also cause chest pain, heart attack, or heart failure. . Doctors diagnose AF using family and medical history, a physical exam, and a test called an electrocardiogram (EKG), which looks at the electrical waves your heart makes. Treatments include medicines and procedures to restore normal rhythm. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
445
Concept ID:
C0004238
Disease or Syndrome; Finding
6.

Shortened QT interval

Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). [from HPO]

MedGen UID:
489827
Concept ID:
C0151879
Finding
7.

Atrial fibrillation

MedGen UID:
368090
Concept ID:
C1963067
Finding; Pathologic Function
8.

Arrhythmia

Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. [from HPO]

MedGen UID:
167788
Concept ID:
C0855329
Finding
9.

Ventricular arrhythmia

Irregular heart beat resulting from a pathologic process in the cardiac ventricles. [from NCI]

MedGen UID:
39082
Concept ID:
C0085612
Disease or Syndrome; Finding
10.

Heart disease

If you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the U.S. It is also a major cause of disability. There are many different forms of heart disease. The most common cause of heart disease is narrowing or blockage of the coronary arteries, the blood vessels that supply blood to the heart itself. This is called coronary artery disease and happens slowly over time. It's the major reason people have heart attacks. Other kinds of heart problems may happen to the valves in the heart, or the heart may not pump well and cause heart failure. Some people are born with heart disease. You can help reduce your risk of heart disease by taking steps to control factors that put you at greater risk:. - Control your blood pressure. - Lower your cholesterol. - Don't smoke. - Get enough exercise. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
5458
Concept ID:
C0018799
Disease or Syndrome
11.

Sudden death

Rapid and unexpected death. [from HPO]

MedGen UID:
8257
Concept ID:
C0011071
Pathologic Function
12.

Cardiac arrest

The heart has an internal electrical system that controls the rhythm of the heartbeat. Problems can cause abnormal heart rhythms, called arrhythmias. There are many types of arrhythmia. During an arrhythmia, the heart can beat too fast, too slow, or it can stop beating. Sudden cardiac arrest (SCA) occurs when the heart develops an arrhythmia that causes it to stop beating. This is different than a heart attack, where the heart usually continues to beat but blood flow to the heart is blocked. . There are many possible causes of SCA. They include coronary heart disease, physical stress, and some inherited disorders. Sometimes there is no known cause for the SCA. Without medical attention, the person will die within a few minutes. People are less likely to die if they have early defibrillation. Defibrillation sends an electric shock to restore the heart rhythm to normal. You should give cardiopulmonary resuscitation (CPR) to a person having SCA until defibrillation can be done. If you have had an SCA, an implantable cardiac defibrillator (ICD) reduces the chance of dying from a second SCA. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
5456
Concept ID:
C0018790
Disease or Syndrome; Finding
13.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
14.

Disorder of cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
15.

Long QT syndrome 11

Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the ECG and the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Syncope typically occurs during exercise and high emotions, less frequently at rest or during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal spells. While cardiac events may occur from infancy through middle age, they are most common from the pre-teen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7), hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8) and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome. [from GeneReviews]

MedGen UID:
437218
Concept ID:
C2678483
Disease or Syndrome
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