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Results: 4

1.

LONG QT SYNDROME 1/2, DIGENIC (disorder)

MedGen UID:
479330
Concept ID:
C3277700
Disease or Syndrome
2.

Long QT syndrome 1/2, digenic

MedGen UID:
462294
Concept ID:
C3150944
Disease or Syndrome
3.

Acquired susceptibility to long QT syndrome 1

MedGen UID:
334482
Concept ID:
C1843738
Finding
4.

Long QT syndrome 1

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:
19831
Concept ID:
C0035828
Disease or Syndrome

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