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Items: 17

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.

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
3.

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
4.

symptomatic

MedGen UID:
880232
Concept ID:
CN235625
Finding
5.

Syncope

Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. [from HPO]

MedGen UID:
504784
Concept ID:
CN001173
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.

Sudden cardiac death

MedGen UID:
369872
Concept ID:
C1968862
Finding
8.

Atrial fibrillation

MedGen UID:
368090
Concept ID:
C1963067
Finding; Pathologic Function
9.

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
10.

Arrhythmia

An arrhythmia is a problem with the rate or rhythm of your heartbeat. It means that your heart beats too quickly, too slowly, or with an irregular pattern. When the heart beats faster than normal, it is called tachycardia. When the heart beats too slowly, it is called bradycardia. The most common type of arrhythmia is atrial fibrillation, which causes an irregular and fast heart beat. Many factors can affect your heart's rhythm, such as having had a heart attack, smoking, congenital heart defects, and stress. Some substances or medicines may also cause arrhythmias. . Symptoms of arrhythmias include. -Fast or slow heart beat. -Skipping beats. -Lightheadedness or dizziness. -Chest pain. -Shortness of breath . -Sweating . Your doctor can run tests to find out if you have an arrhythmia. Treatment to restore a normal heart rhythm may include medicines, an implantable cardioverter-defibrillator (ICD) or pacemaker, or sometimes surgery. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
2039
Concept ID:
C0003811
Finding; Finding
11.

Loss of consciousness

Loss of the ability to maintain awareness of self and environment combined with markedly reduced responsiveness to environmental stimuli. (From Adams et al., Principles of Neurology, 6th ed, pp344-5) [from MeSH]

MedGen UID:
52915
Concept ID:
C0041657
Finding
12.

Sudden death

Rapid and unexpected death. [from HPO]

MedGen UID:
8257
Concept ID:
C0011071
Pathologic Function
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.

Laryngoonychocutaneous syndrome

Laryngo-onycho-cutaneous (LOC) syndrome is a disorder that leads to abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), and skin (cutaneous). Many of the condition's signs and symptoms are related to the abnormal growth of granulation tissue in different parts of the body. This red, bumpy tissue is normally produced during wound healing and is usually replaced by skin cells as healing continues. However, in people with LOC syndrome, this tissue grows even when there is no major injury.One of the first symptoms in infants with LOC syndrome is a hoarse cry due to ulcers or overgrowth of granulation tissue in the voicebox (the larynx). Excess granulation tissue can also block the airways, leading to life-threatening breathing problems; as a result many affected individuals do not survive past childhood.In LOC syndrome, granulation tissue also grows in the eyes, specifically the conjunctiva, which are the moist tissues that line the eyelids and the white part of the eyes. Affected individuals often have impairment or complete loss of vision due to the tissue overgrowth.Another common feature of LOC syndrome is missing patches of skin (cutaneous erosions). The erosions heal slowly and may become infected. People with LOC syndrome can also have malformed nails and small, abnormal teeth. The hard, white material that forms the protective outer layer of each tooth (enamel) is thin, which contributes to frequent cavities.LOC syndrome is typically considered a subtype of another skin condition called junctional epidermolysis bullosa, which is characterized by fragile skin that blisters easily. While individuals with junctional epidermolysis bullosa can have some of the features of LOC syndrome, they do not usually have overgrowth of granulation tissue in the conjunctiva.
[from GHR]

MedGen UID:
272227
Concept ID:
C1328355
Disease or Syndrome
16.

Atrial fibrillation, familial, 3

Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583. [from OMIM]

MedGen UID:
373232
Concept ID:
C1837014
Disease or Syndrome
17.

Conduction disorder of the heart

Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities [from SNOMED CT]

MedGen UID:
78114
Concept ID:
C0264886
Disease or Syndrome; Pathologic Function
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