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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 GTR]

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

Channelopathies

A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS. [from MeSH]

MedGen UID:
328427
Concept ID:
C1720983
Disease or Syndrome
3.

Cardiac Death

The cessation of life due to heart abnormalities or disease. [from NCI]

MedGen UID:
91217
Concept ID:
C0376297
Pathologic Function
4.

Long QT syndrome

A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME. [from MeSH]

MedGen UID:
44193
Concept ID:
C0023976
Disease or Syndrome
5.

Sudden cardiac death

An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms.(NICHD) [from NCI]

MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
6.

Ventricular fibrillation

A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC) [from NCI]

MedGen UID:
21844
Concept ID:
C0042510
Disease or Syndrome
7.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
8.

Cardiac arrhythmia

A disorder in which there is abnormal electrical activity in the heart. [from SNOMEDCT_US]

MedGen UID:
2039
Concept ID:
C0003811
Finding; Finding
9.

QT interval duration

MedGen UID:
661291
Concept ID:
C0577807
Finding
10.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
11.

Life Threatening

A situation that imperils the existence of an entity. [from NCI]

MedGen UID:
415288
Concept ID:
C2826244
Finding
12.

History

The aggregate of past events; the continuum of events occurring in succession leading from the past to the present; a record or narrative description of past events. [from NCI]

MedGen UID:
389153
Concept ID:
C2004062
Finding
13.

Sudden cardiac death

MedGen UID:
369872
Concept ID:
C1968862
14.

Ventricular fibrillation

MedGen UID:
368774
Concept ID:
C1962976
Pathologic Function
15.

ECG abnormality

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:
321993
Concept ID:
C1832603
Finding
16.

Thymus Epithelial Neoplasm

An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas. [from NCI]

MedGen UID:
220416
Concept ID:
C1266101
Neoplastic Process
17.

Arrhythmia

An electrocardiographic finding of a change in cardiac electrical activity. [from NCI]

MedGen UID:
167788
Concept ID:
C0855329
Finding
18.

Paroxysmal familial ventricular fibrillation

MedGen UID:
83310
Concept ID:
C0340493
Disease or Syndrome
19.

History of

A record of a patient's background regarding health and the occurrence of disease events of the individual. In addition, personal medical history may be a variable in epidemiologic studies. [from NCI]

MedGen UID:
82657
Concept ID:
C0262926
Finding
20.

Fibrillation

MedGen UID:
66672
Concept ID:
C0232197
Disease or Syndrome
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